Chr Loc Genotype Gene Ref Alt Type Class Protein RS Phenotype
1 881627 1 NOC2L G A exonic synonymous SNV NOC2L:NM_015658:exon16:c.C1843T:p.L615L
1 887801 2 NOC2L A G exonic synonymous SNV NOC2L:NM_015658:exon10:c.T1182C:p.T394T
1 888639 2 NOC2L T C exonic synonymous SNV NOC2L:NM_015658:exon9:c.A918G:p.E306E
1 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 989207 1 AGRN G C exonic nonsynonymous SNV AGRN:NM_198576:exon34:c.G5726C:p.S1909T
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 1222267 2 SCNN1D G C exonic nonsynonymous SNV SCNN1D:NM_001130413:exon8:c.G1031C:p.R344P
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 1269554 2 TAS1R3 T C exonic nonsynonymous SNV TAS1R3:NM_152228:exon6:c.T2269C:p.C757R
1 1284367 1 DVL1 G A exonic nonsynonymous SNV DVL1:NM_001330311:exon1:c.C79T:p.R27C,DVL1:NM_004421:exon1:c.C79T:p.R27C
1 1361633 2 TMEM88B G A exonic synonymous SNV TMEM88B:NM_001146685:exon1:c.G126A:p.S42S
1 1361641 2 TMEM88B C T exonic nonsynonymous SNV TMEM88B:NM_001146685:exon1:c.C134T:p.P45L
1 1374834 2 VWA1 A G exonic synonymous SNV VWA1:NM_022834:exon3:c.A1005G:p.P335P
1 1403869 1 ATAD3C G A exonic nonsynonymous SNV ATAD3C:NM_001039211:exon12:c.G1195A:p.G399R
1 1403873 1 ATAD3C A G exonic nonsynonymous SNV ATAD3C:NM_001039211:exon12:c.A1199G:p.E400G
1 1421531 1 ATAD3B C A exonic synonymous SNV ATAD3B:NM_001317238:exon8:c.C867A:p.T289T,ATAD3B:NM_031921:exon10:c.C1005A:p.T335T RS819976 Total cholesterol:LDL cholesterol:Transmission distortion
1 1425700 1 ATAD3B T C exonic synonymous SNV ATAD3B:NM_001317238:exon12:c.T1263C:p.I421I,ATAD3B:NM_031921:exon14:c.T1401C:p.I467I RS819980 Irritible bowel syndrome:LDL cholesterol:Autism:Serum concentration of 3-methyl-2-oxobutyrate:PROP taste detection threshold:Advanced age-related macular degeneration (geographic atrophy)
1 1431165 1 ATAD3B C T exonic nonsynonymous SNV ATAD3B:NM_001317238:exon14:c.C1777T:p.P593S,ATAD3B:NM_031921:exon16:c.C1915T:p.P639S
1 1452592 2 ATAD3A T C exonic nonsynonymous SNV ATAD3A:NM_018188:exon3:c.T328C:p.W110R
1 1452615 2 ATAD3A C T exonic synonymous SNV ATAD3A:NM_018188:exon3:c.C351T:p.A117A
1 1479333 2 SSU72 A G exonic synonymous SNV SSU72:NM_014188:exon4:c.T399C:p.P133P RS7533 Differential splicing of SSU72 [probeset 2391652] in lymphoblastoid cell lines:Years of education:Adiponectin levels
1 1647814 1 CDK11A;CDK11B T C exonic synonymous SNV CDK11A:NM_001313896:exon5:c.A429G:p.E143E,CDK11A:NM_001313982:exon5:c.A429G:p.E143E,CDK11A:NM_024011:exon5:c.A459G:p.E153E,CDK11A:NM_033529:exon5:c.A429G:p.E143E,CDK11B:NM_001291345:exon6:c.A429G:p.E143E,CDK11B:NM_001787:exon6:c.A459G:p.E153E,CDK11B:NM_033486:exon6:c.A459G:p.E153E,CDK11B:NM_033489:exon7:c.A357G:p.E119E RS72901775 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 1647871 1 CDK11A;CDK11B T C exonic synonymous SNV CDK11A:NM_001313896:exon5:c.A372G:p.R124R,CDK11A:NM_001313982:exon5:c.A372G:p.R124R,CDK11A:NM_024011:exon5:c.A402G:p.R134R,CDK11A:NM_033529:exon5:c.A372G:p.R124R,CDK11B:NM_001291345:exon6:c.A372G:p.R124R,CDK11B:NM_001787:exon6:c.A402G:p.R134R,CDK11B:NM_033486:exon6:c.A402G:p.R134R,CDK11B:NM_033489:exon7:c.A300G:p.R100R RS72909014 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 1650807 1 CDK11A;CDK11B T C exonic synonymous SNV CDK11B:NM_001291345:exon4:c.A315G:p.R105R,CDK11A:NM_001313896:exon4:c.A315G:p.R105R,CDK11A:NM_001313982:exon4:c.A315G:p.R105R,CDK11B:NM_001787:exon4:c.A315G:p.R105R,CDK11A:NM_024011:exon4:c.A315G:p.R105R,CDK11B:NM_033486:exon4:c.A315G:p.R105R,CDK11A:NM_033529:exon4:c.A315G:p.R105R,CDK11B:NM_033489:exon5:c.A213G:p.R71R RS1137005 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 1650832 1 CDK11A;CDK11B A G exonic nonsynonymous SNV CDK11B:NM_001291345:exon4:c.T290C:p.V97A,CDK11A:NM_001313896:exon4:c.T290C:p.V97A,CDK11A:NM_001313982:exon4:c.T290C:p.V97A,CDK11B:NM_001787:exon4:c.T290C:p.V97A,CDK11A:NM_024011:exon4:c.T290C:p.V97A,CDK11B:NM_033486:exon4:c.T290C:p.V97A,CDK11A:NM_033529:exon4:c.T290C:p.V97A,CDK11B:NM_033489:exon5:c.T188C:p.V63A RS72909030 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 1650845 1 CDK11A;CDK11B G A exonic nonsynonymous SNV CDK11B:NM_001291345:exon4:c.C277T:p.R93W,CDK11A:NM_001313896:exon4:c.C277T:p.R93W,CDK11A:NM_001313982:exon4:c.C277T:p.R93W,CDK11B:NM_001787:exon4:c.C277T:p.R93W,CDK11A:NM_024011:exon4:c.C277T:p.R93W,CDK11B:NM_033486:exon4:c.C277T:p.R93W,CDK11A:NM_033529:exon4:c.C277T:p.R93W,CDK11B:NM_033489:exon5:c.C175T:p.R59W RS1059831 Gene expression of MIB2 [transcript NM_080875, probe A_24_P259328] in liver
1 1653046 1 CDK11A;CDK11B T A exonic synonymous SNV CDK11B:NM_001291345:exon3:c.A216T:p.S72S,CDK11A:NM_001313896:exon3:c.A216T:p.S72S,CDK11A:NM_001313982:exon3:c.A216T:p.S72S,CDK11B:NM_001787:exon3:c.A216T:p.S72S,CDK11A:NM_024011:exon3:c.A216T:p.S72S,CDK11B:NM_033486:exon3:c.A216T:p.S72S,CDK11A:NM_033529:exon3:c.A216T:p.S72S,CDK11B:NM_033489:exon4:c.A114T:p.S38S
1 1653093 1 CDK11A;CDK11B A G exonic nonsynonymous SNV CDK11B:NM_001291345:exon3:c.T169C:p.C57R,CDK11A:NM_001313896:exon3:c.T169C:p.C57R,CDK11A:NM_001313982:exon3:c.T169C:p.C57R,CDK11B:NM_001787:exon3:c.T169C:p.C57R,CDK11A:NM_024011:exon3:c.T169C:p.C57R,CDK11B:NM_033486:exon3:c.T169C:p.C57R,CDK11A:NM_033529:exon3:c.T169C:p.C57R,CDK11B:NM_033489:exon4:c.T67C:p.C23R
1 1684472 2 NADK C T exonic synonymous SNV NADK:NM_001198995:exon10:c.G1116A:p.P372P,NADK:NM_001198993:exon12:c.G1212A:p.P404P,NADK:NM_023018:exon12:c.G1212A:p.P404P,NADK:NM_001198994:exon14:c.G1647A:p.P549P
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 2340200 1 PEX10 T C exonic synonymous SNV PEX10:NM_002617:exon3:c.A291G:p.T97T,PEX10:NM_153818:exon3:c.A291G:p.T97T
1 2430617 1 PLCH2 C T exonic synonymous SNV PLCH2:NM_001303012:exon19:c.C2448T:p.I816I,PLCH2:NM_001303013:exon19:c.C2589T:p.I863I,PLCH2:NM_014638:exon19:c.C2529T:p.I843I RS2296442 HDL cholesterol:LDL cholesterol:Fasting insulin:Gene expression of MMEL1 in peripheral blood monocytes:Body mass index (BMI):Serum concentration of arginine:Mitral annular calcium
1 2441358 1 PANK4 T C exonic nonsynonymous SNV PANK4:NM_018216:exon18:c.A2075G:p.Q692R RS2494620 Triglycerides:Gene expression of PLCH2 (ENSG00000149527) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of PLCH2 (ENSG00000149527) in dendritic cells:Years of education
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 2488153 1 TNFRSF14 A G exonic nonsynonymous SNV TNFRSF14:NM_001297605:exon1:c.A50G:p.K17R,TNFRSF14:NM_003820:exon1:c.A50G:p.K17R
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 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 3745924 2 CEP104 G A exonic nonsynonymous SNV CEP104:NM_014704:exon15:c.C2057T:p.A686V RS2275831 Differential exon level expression of CCDC27 [probe 2317487] in brain cortex:Gene expression of TSPYL2 in peripheral blood monocytes:Partial epilepsy:Primary rhegmatogenous retinal detachment
1 3807593 2 C1orf174 G C exonic nonsynonymous SNV C1orf174:NM_207356:exon3:c.C158G:p.T53R RS4274008 Birth weight
1 5937168 2 NPHP4 G A exonic synonymous SNV NPHP4:NM_001291594:exon16:c.C1266T:p.R422R,NPHP4:NM_001291593:exon17:c.C1263T:p.R421R,NPHP4:NM_015102:exon20:c.C2802T:p.R934R RS3747992 Triglycerides:Chronic kidney disease
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 6614535 2 NOL9 G A exonic nonsynonymous SNV NOL9:NM_024654:exon1:c.C28T:p.R10W RS4908923 Fasting insulin:HOMA-IR:HOMA-B:LDL cholesterol:Total cholesterol change with statins:LDL cholesterol change with statins:Total cholesterol:LDL cholesterol:Total cholesterol:Infant head circumference
1 6635231 2 TAS1R1 A G exonic nonsynonymous SNV TAS1R1:NM_138697:exon3:c.A1039G:p.K347E
1 6659505 1 KLHL21 G A exonic synonymous SNV KLHL21:NM_001324309:exon2:c.C1029T:p.S343S,KLHL21:NM_014851:exon2:c.C1029T:p.S343S RS2232460 PROP taste detection threshold
1 6693097 1 THAP3 A G exonic nonsynonymous SNV THAP3:NM_001195752:exon5:c.A677G:p.Q226R,THAP3:NM_001195753:exon6:c.A680G:p.Q227R RS3174820 Total cholesterol:Systolic blood pressure (SBP):Obesity with early age of onset (age >2):Aortic valve calcium:Mitral annular calcium
1 6704635 2 DNAJC11 A G exonic synonymous SNV DNAJC11:NM_018198:exon10:c.T1080C:p.G360G RS200458 Triglycerides:Cystatin C in serum:Serum ratio of (gamma-glutamylleucine)/(phenyllactate (PLA)):Bipolar disorder:Hypertension (early onset hypertension):Adiponectin levels
1 6705874 1 DNAJC11 G C exonic nonsynonymous SNV DNAJC11:NM_018198:exon8:c.C869G:p.T290S RS200454 Barnes Akathisia Rating Scale:Years of education
1 8075620 1 ERRFI1 T C exonic synonymous SNV ERRFI1:NM_018948:exon2:c.A60G:p.L20L
1 8418644 2 RERE C A exonic synonymous SNV RERE:NM_001042682:exon10:c.G2289T:p.R763R,RERE:NM_001042681:exon20:c.G3951T:p.R1317R,RERE:NM_012102:exon21:c.G3951T:p.R1317R
1 8418650 2 RERE T C exonic synonymous SNV RERE:NM_001042682:exon10:c.A2283G:p.R761R,RERE:NM_001042681:exon20:c.A3945G:p.R1315R,RERE:NM_012102:exon21:c.A3945G:p.R1315R
1 8421203 2 RERE T C exonic synonymous SNV RERE:NM_001042682:exon8:c.A702G:p.P234P,RERE:NM_001042681:exon18:c.A2364G:p.P788P,RERE:NM_012102:exon19:c.A2364G:p.P788P RS13596 Gene expression of SLC45A1 (ENSG00000162426) in dendritic cells treated with Mycobacterium tuberculosis
1 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 9323910 1 H6PD G A exonic nonsynonymous SNV H6PD:NM_001282587:exon5:c.G1391A:p.R464Q,H6PD:NM_004285:exon5:c.G1358A:p.R453Q RS6688832 Stabilized warfarin dose:Irritible bowel syndrome:LDL cholesterol:Premature ovarian failure:Fasting blood glucose:Height:Gene expression of H6PD in blood:Hypertension (early onset hypertension)
1 9324571 1 H6PD T C exonic synonymous SNV H6PD:NM_001282587:exon5:c.T2052C:p.Y684Y,H6PD:NM_004285:exon5:c.T2019C:p.Y673Y RS9434742 PROP taste detection threshold
1 9324670 1 H6PD A G exonic synonymous SNV H6PD:NM_001282587:exon5:c.A2151G:p.S717S,H6PD:NM_004285:exon5:c.A2118G:p.S706S
1 9642424 1 SLC25A33 G C exonic synonymous SNV SLC25A33:NM_032315:exon7:c.G831C:p.L277L
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 9784423 1 PIK3CD C T exonic synonymous SNV PIK3CD:NM_001350235:exon21:c.C2721T:p.Y907Y,PIK3CD:NM_001350234:exon22:c.C2805T:p.Y935Y,PIK3CD:NM_005026:exon22:c.C2808T:p.Y936Y RS11121484 Rheumatoid arthritis
1 10511544 2 CENPS-CORT;CORT C T exonic synonymous SNV CORT:NM_001302:exon2:c.C210T:p.A70A,CENPS-CORT:NM_001243768:exon4:c.C324T:p.A108A,CENPS-CORT:NM_198544:exon5:c.C387T:p.A129A RS628462 Gene expression of KIF1B in blood:Gene expression of APITD1 (ENSG00000175279) in dendritic cells
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 10689942 1 PEX14 G T exonic synonymous SNV PEX14:NM_004565:exon9:c.G1032T:p.G344G
1 11073982 1 TARDBP T C exonic synonymous SNV TARDBP:NM_007375:exon2:c.T198C:p.A66A
1 11087524 1 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 11181327 2 MTOR C T exonic synonymous SNV MTOR:NM_004958:exon49:c.G6909A:p.L2303L RS11121691 Differential splicing of FRAP1 [probeset 2396584] in lymphoblastoid cell lines:2 hour glucose:Total cholesterol:Height:Body mass index (BMI):Microalbuminuria:Urinary albumin-to-creatinine ratio:Parkinson's disease:Diabetic retinopathy in Type 2 diabetes mellitus:Obesity with early age of onset (age >2):Birth weight
1 11184593 1 MTOR A G exonic synonymous SNV MTOR:NM_004958:exon47:c.T6624C:p.L2208L
1 11190646 2 MTOR G A exonic synonymous SNV MTOR:NM_004958:exon39:c.C5553T:p.S1851S RS2275527 Differential splicing of FRAP1 [probeset 2396584] in lymphoblastoid cell lines:Total cholesterol:Height:Body mass index (BMI):Microalbuminuria:Urinary albumin-to-creatinine ratio:Diabetic retinopathy in Type 2 diabetes mellitus:Obesity with early age of onset (age >2):Parkinson's disease:Birth weight
1 11718859 1 FBXO44 C T exonic nonsynonymous SNV FBXO44:NM_183412:exon4:c.C430T:p.R144C,FBXO44:NM_183413:exon4:c.C430T:p.R144C,FBXO44:NM_001304790:exon5:c.C430T:p.R144C,FBXO44:NM_001330355:exon5:c.C526T:p.R176C
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 11856378 1 MTHFR G A exonic nonsynonymous SNV MTHFR:NM_001330358:exon5:c.C788T:p.A263V,MTHFR:NM_005957:exon5:c.C665T:p.A222V RS386545618 Hip geometry, shaft section modulus, gender differentiated in males:HDL cholesterol:Circulating Folate concentration (ng/mL):Circulating Homocysteine concentration (?mol/L):Total plasma homocysteine:Plasma homocysteine:Major depressive disorder (broad definition):Major depressive disorder (narrow definition):Recurrent early onset major depressive disorder (broad definition):Recurrent early onset major depressive disorder (narrow definition):Homocysteine levels:Serum creatinine:HDL cholesterol:Neuroblastoma (brain cancer):N-terminal signal peptide of pro-B-type natriuretic peptide blood level:Microalbuminuria:IgA nephropathy:Gene expression of NPPA in blood:Gene expression of CLCN6 in blood:Gene expression of MTHFR///AL953897.6 in blood:Gene expression of MFN2 in blood:Gene expression of PLOD1 in blood:Diastolic blood pressure (DBP):Schizophrenia:PROP taste detection threshold:Parkinson's disease:Hypertension (early onset hypertension):Congenital heart malformations:Gene expression of MTHFR (probeID ILMN_1734830) in cerebellum in Alzheimer's disease cases:Homocysteine:Breast cancer
1 11983206 1 KIAA2013 A G exonic synonymous SNV KIAA2013:NM_138346:exon2:c.T1374C:p.F458F
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 12082334 1 MIIP A T exonic nonsynonymous SNV MIIP:NM_021933:exon3:c.A297T:p.K99N
1 12082926 2 MIIP A G exonic nonsynonymous SNV MIIP:NM_021933:exon4:c.A499G:p.K167E RS2295283 Differential exon level expression of MFN2 [probe 2320645] in peripheral blood mononuclear cells:Simpson-Angus Scale:Gene expression of PLOD1 in peripheral blood monocytes:Gene expression of MFN2 in peripheral blood monocytes:Gene expression of MIIP [transcript NM_021933, probe A_23_P114649] in liver:Gene expression of MFN2 in blood:Gene expression of PLOD1 in blood:Serum ratio of (1-eicosatrienoylglycerophosphocholine*)/(arabinose):Serum ratio of (laurate (12:0))/(xanthine):Gene expression of MFN2 [probeset 216205_s_at] in sputum:Gene expression of MFN2 [probeset 201155_s_at] in sputum:Bipolar disorder:Migraine
1 12401868 2 VPS13D A C exonic synonymous SNV VPS13D:NM_018156:exon40:c.A8583C:p.P2861P,VPS13D:NM_015378:exon41:c.A8658C:p.P2886P RS28551666 Serum ratio of (1-methylurate)/(HWESASXX*):Diabetic retinopathy in Type 2 diabetes mellitus
1 12638964 1 DHRS3 T C exonic synonymous SNV DHRS3:NM_001319225:exon4:c.A225G:p.P75P,DHRS3:NM_001324370:exon4:c.A225G:p.P75P,DHRS3:NM_004753:exon4:c.A480G:p.P160P RS2275875 Differential exon level expression of DHRS3 [probe 2397040] in brain cortex:Serum ratio of (threitol)/(trigonelline (N'-methylnicotinate)):Serum concentration of serotonin (5HT)
1 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 14143003 2 PRDM2 A G exonic nonsynonymous SNV PRDM2:NM_001135610:exon7:c.A593G:p.Q198R RS1046331 Triglycerides:HDL cholesterol:Triglycerides:Birth weight
1 15386706 1 KAZN G C exonic nonsynonymous SNV KAZN:NM_001017999:exon6:c.G673C:p.V225L,KAZN:NM_001018000:exon6:c.G937C:p.V313L,KAZN:NM_001018001:exon6:c.G673C:p.V225L,KAZN:NM_015209:exon6:c.G955C:p.V319L,KAZN:NM_201628:exon6:c.G955C:p.V319L
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 15832543 2 CASP9 T C exonic nonsynonymous SNV CASP9:NM_001229:exon5:c.A662G:p.Q221R,CASP9:NM_032996:exon5:c.A413G:p.Q138R RS1052576 Gene expression of AGMAT [probe 222930_s_at] in lymphoblastoid cell lines:Gene expression of probe 221648_s_at in lymphoblastoid cell lines:Gene expression of DDI2 [probe 224449_at] in lymphoblastoid cell lines:Serum creatinine:Waist hip ratio:Comorbid depressive syndrome and alcohol dependence:Gene expression of CASP9 in normal prepouch ileum
1 15844615 2 CASP9 A G exonic synonymous SNV CASP9:NM_001229:exon2:c.T408C:p.F136F,CASP9:NM_001278054:exon2:c.T408C:p.F136F,CASP9:NM_032996:exon2:c.T159C:p.F53F RS1132312 Serum creatinine:Waist hip ratio:Comorbid depressive syndrome and alcohol dependence:Gene expression of CASP9 in normal prepouch ileum
1 15850603 1 CASP9 G A exonic synonymous SNV CASP9:NM_001229:exon1:c.C93T:p.S31S,CASP9:NM_001278054:exon1:c.C93T:p.S31S RS4645983 Lung function, ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):Chronic kidney disease:Serum creatinine:Methylation levels at chr1:15784239-15784289 [hg18 coord, probe cg17385448] in Frontal cortex:Methylation levels at chr1:15784239-15784289 [hg18 coord, probe cg17385448] in Cerebellum:Methylation levels at chr1:15784239-15784289 [hg18 coord, probe cg17385448] in Caudal pons:Methylation levels at chr1:15784239-15784289 [hg18 coord, probe cg17385448] in Temporal cortex:Methylation levels at chr1:15783576-15783626 [hg18 coord, probe cg11706911] in Cerebellum:Systolic blood pressure (SBP)
1 15850613 2 CASP9 G A exonic nonsynonymous SNV CASP9:NM_001229:exon1:c.C83T:p.A28V,CASP9:NM_001278054:exon1:c.C83T:p.A28V RS1052571 Gene expression of AGMAT [probe 222930_s_at] in lymphoblastoid cell lines:Gene expression of DDI2 [probe 224449_at] in lymphoblastoid cell lines:Gene expression of probe 221648_s_at in lymphoblastoid cell lines:Gene expression of DDI2 in lymphoblastoid cell lines:Gene expression of AGMAT in lymphoblastoid cell lines:Fasting blood glucose:Serum creatinine:Gene expression of CASP9 in blood:Gene expression of PLEKHM2 in blood:Serum ratio of (1,3,7-trimethylurate)/(docosahexaenoate (DHA; 22:6n3)):Gene expression of CASP9 [probeset 203984_s_at] in sputum:Gene expression of CASP9 [probeset 210775_x_at] in sputum:Comorbid depressive syndrome and alcohol dependence:Gene expression of CASP9 in normal prepouch ileum:Tetrology of fallot
1 15904318 1 AGMAT C T exonic synonymous SNV AGMAT:NM_024758:exon5:c.G762A:p.S254S
1 15905501 1 AGMAT G A exonic synonymous SNV AGMAT:NM_024758:exon4:c.C573T:p.T191T
1 15909744 1 AGMAT C T exonic nonsynonymous SNV AGMAT:NM_024758:exon2:c.G419A:p.R140Q RS11580170 Hip bone mineral density (BMD):Arthritis including non-Rheumatoid:Gene expression of CASP9 in blood cells in Celiac disease:Serum creatinine:Methylation levels at chr1:15784239-15784289 [hg18 coord, probe cg17385448] in Caudal pons:Methylation levels at chr1:15784239-15784289 [hg18 coord, probe cg17385448] in Frontal cortex:Methylation levels at chr1:15784239-15784289 [hg18 coord, probe cg17385448] in Cerebellum:Methylation levels at chr1:15783576-15783626 [hg18 coord, probe cg11706911] in Cerebellum:Methylation levels at chr1:15784239-15784289 [hg18 coord, probe cg17385448] in Temporal cortex:Gene expression of DDI2 in blood:Gene expression of SLC25A34 in blood:Gene expression of PLEKHM2 in blood:Gene expression of [probe 5870605 centered at chr1:15867806] in blood:Gene expression of CASP9 in blood:Adiponectin levels:Refractive error:Parkinson's disease:Tetrology of fallot
1 15909850 2 AGMAT C G exonic nonsynonymous SNV AGMAT:NM_024758:exon2:c.G313C:p.G105R RS6429757 Serum creatinine:Adiponectin levels:Transmission distortion
1 15911349 1 AGMAT G A exonic synonymous SNV AGMAT:NM_024758:exon1:c.C114T:p.D38D
1 15986547 1 RSC1A1 T C exonic nonsynonymous SNV RSC1A1:NM_006511:exon1:c.T184C:p.F62L RS3766163 Hip bone mineral density (BMD):Arthritis including non-Rheumatoid:Gene expression of CASP9 in blood cells in Celiac disease:Chronic kidney disease:Serum creatinine:Methylation levels at chr1:15784239-15784289 [hg18 coord, probe cg17385448] in Temporal cortex:Methylation levels at chr1:15784239-15784289 [hg18 coord, probe cg17385448] in Cerebellum:Methylation levels at chr1:15784239-15784289 [hg18 coord, probe cg17385448] in Caudal pons:Methylation levels at chr1:15784239-15784289 [hg18 coord, probe cg17385448] in Frontal cortex:Methylation levels at chr1:15783576-15783626 [hg18 coord, probe cg11706911] in Cerebellum:Waist hip ratio:Late onset Alzheimer's disease:Gene expression of DDI2 in blood:Gene expression of [probe 5870605 centered at chr1:15867806] in blood:Gene expression of CASP9 in blood:Gene expression of SLC25A34 in blood:Gene expression of RSC1A1 in blood:Gene expression of PLEKHM2 in blood:Refractive error:Tetrology of fallot
1 16057046 1 PLEKHM2 G A exonic nonsynonymous SNV PLEKHM2:NM_015164:exon15:c.G2228A:p.R743H
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 16451767 1 EPHA2 G A exonic synonymous SNV EPHA2:NM_001329090:exon16:c.C2712T:p.I904I,EPHA2:NM_004431:exon17:c.C2874T:p.I958I RS3754334 Triglycerides:Total cholesterol:Triglycerides:Waist hip ratio:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Adiponectin levels:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
1 16464673 1 EPHA2 G A exonic synonymous SNV EPHA2:NM_001329090:exon4:c.C825T:p.P275P,EPHA2:NM_004431:exon5:c.C987T:p.P329P RS2230597 Triglycerides:Advanced age-related macular degeneration:Infant head circumference:Adiponectin levels
1 16577794 1 FBXO42 C T exonic nonsynonymous SNV FBXO42:NM_018994:exon10:c.G1525A:p.A509T
1 16577908 1 FBXO42 G C exonic nonsynonymous SNV FBXO42:NM_018994:exon10:c.C1411G:p.P471A RS12069239 Gene expression of ARHGEF19 in CHB-JPT lymphoblastoid cell lines:Differential splicing of FBXO42 [probeset 2398103] in lymphoblastoid cell lines:HDL cholesterol:Serum creatinine:Total cholesterol:Body mass index (BMI):Infant head circumference:Birth weight
1 16641899 1 FBXO42 C T exonic synonymous SNV FBXO42:NM_018994:exon2:c.G15A:p.S5S
1 16736272 1 SPATA21 G A exonic synonymous SNV SPATA21:NM_198546:exon6:c.C411T:p.S137S
1 16890441 1 NBPF1 C T exonic unknown UNKNOWN
1 16890484 1 NBPF1 G C exonic unknown UNKNOWN
1 16890598 1 NBPF1 T A exonic unknown UNKNOWN
1 16890606 1 NBPF1 C T exonic unknown UNKNOWN
1 16890644 1 NBPF1 C T exonic unknown UNKNOWN
1 16891333 1 NBPF1 C T exonic unknown UNKNOWN
1 16902823 1 NBPF1 G C exonic unknown UNKNOWN
1 16907328 1 NBPF1 G T exonic unknown UNKNOWN
1 16918502 1 NBPF1 A G exonic unknown UNKNOWN
1 17084968 1 MST1L G C exonic nonsynonymous SNV MST1L:NM_001271733:exon11:c.C1507G:p.R503G
1 17085412 2 MST1L C T exonic nonsynonymous SNV MST1L:NM_001271733:exon10:c.G1279A:p.A427T
1 17085427 2 MST1L T C exonic nonsynonymous SNV MST1L:NM_001271733:exon10:c.A1264G:p.I422V
1 17085795 2 MST1L G T exonic synonymous SNV MST1L:NM_001271733:exon8:c.C1026A:p.I342I
1 17087299 2 MST1L T C exonic synonymous SNV MST1L:NM_001271733:exon3:c.A285G:p.S95S
1 17087305 2 MST1L G C exonic synonymous SNV MST1L:NM_001271733:exon3:c.C279G:p.P93P
1 17265511 1 CROCC C T exonic synonymous SNV CROCC:NM_014675:exon12:c.C1482T:p.S494S
1 17265532 1 CROCC C G exonic synonymous SNV CROCC:NM_014675:exon12:c.C1503G:p.P501P
1 17275337 2 CROCC C T exonic nonsynonymous SNV CROCC:NM_014675:exon19:c.C2752T:p.R918W
1 17277573 1 CROCC C T exonic nonsynonymous SNV CROCC:NM_014675:exon20:c.C2962T:p.R988W
1 17295679 2 CROCC T C exonic synonymous SNV CROCC:NM_014675:exon32:c.T5145C:p.A1715A
1 17312743 2 ATP13A2 C T exonic nonsynonymous SNV ATP13A2:NM_001141974:exon27:c.G3214A:p.A1072T
1 17313343 2 ATP13A2 G A exonic synonymous SNV ATP13A2:NM_001141974:exon26:c.C3060T:p.A1020A,ATP13A2:NM_001141973:exon27:c.C3177T:p.A1059A,ATP13A2:NM_022089:exon27:c.C3192T:p.A1064A
1 17313654 2 ATP13A2 C T exonic synonymous SNV ATP13A2:NM_001141974:exon25:c.G2838A:p.V946V,ATP13A2:NM_001141973:exon26:c.G2955A:p.V985V,ATP13A2:NM_022089:exon26:c.G2970A:p.V990V
1 17314942 2 ATP13A2 G A exonic synonymous SNV ATP13A2:NM_001141974:exon23:c.C2505T:p.G835G,ATP13A2:NM_001141973:exon24:c.C2622T:p.G874G,ATP13A2:NM_022089:exon24:c.C2637T:p.G879G
1 17319011 2 ATP13A2 G A exonic synonymous SNV ATP13A2:NM_001141973:exon17:c.C1800T:p.P600P,ATP13A2:NM_001141974:exon17:c.C1800T:p.P600P,ATP13A2:NM_022089:exon17:c.C1815T:p.P605P
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 18023365 2 ARHGEF10L C T exonic synonymous SNV ARHGEF10L:NM_001319838:exon18:c.C2439T:p.N813N,ARHGEF10L:NM_001328124:exon21:c.C2664T:p.N888N,ARHGEF10L:NM_001319837:exon26:c.C3198T:p.N1066N,ARHGEF10L:NM_001011722:exon27:c.C3213T:p.N1071N,ARHGEF10L:NM_018125:exon29:c.C3330T:p.N1110N RS2270978 Triglycerides change with statins
1 18023509 2 ARHGEF10L T C exonic synonymous SNV ARHGEF10L:NM_001319838:exon18:c.T2583C:p.D861D,ARHGEF10L:NM_001328124:exon21:c.T2808C:p.D936D,ARHGEF10L:NM_001319837:exon26:c.T3342C:p.D1114D,ARHGEF10L:NM_001011722:exon27:c.T3357C:p.D1119D,ARHGEF10L:NM_018125:exon29:c.T3474C:p.D1158D RS2270977 Triglycerides change with statins
1 18023690 2 ARHGEF10L A G exonic nonsynonymous SNV ARHGEF10L:NM_001319838:exon18:c.A2764G:p.I922V,ARHGEF10L:NM_001328124:exon21:c.A2989G:p.I997V,ARHGEF10L:NM_001319837:exon26:c.A3523G:p.I1175V,ARHGEF10L:NM_001011722:exon27:c.A3538G:p.I1180V,ARHGEF10L:NM_018125:exon29:c.A3655G:p.I1219V RS2270976 Triglycerides change with statins
1 19201956 2 ALDH4A1 A G exonic synonymous SNV ALDH4A1:NM_001319218:exon12:c.T1227C:p.D409D,ALDH4A1:NM_001161504:exon13:c.T1200C:p.D400D,ALDH4A1:NM_003748:exon13:c.T1380C:p.D460D,ALDH4A1:NM_170726:exon13:c.T1380C:p.D460D RS2230708 Birth weight
1 19202896 2 ALDH4A1 G A exonic synonymous SNV ALDH4A1:NM_001161504:exon12:c.C1071T:p.A357A,ALDH4A1:NM_003748:exon12:c.C1251T:p.A417A,ALDH4A1:NM_170726:exon12:c.C1251T:p.A417A
1 19202917 2 ALDH4A1 T C exonic synonymous SNV ALDH4A1:NM_001161504:exon12:c.A1050G:p.S350S,ALDH4A1:NM_003748:exon12:c.A1230G:p.S410S,ALDH4A1:NM_170726:exon12:c.A1230G:p.S410S
1 19202926 2 ALDH4A1 T C exonic synonymous SNV ALDH4A1:NM_001161504:exon12:c.A1041G:p.A347A,ALDH4A1:NM_003748:exon12:c.A1221G:p.A407A,ALDH4A1:NM_170726:exon12:c.A1221G:p.A407A
1 19203961 1 ALDH4A1 C T exonic synonymous SNV ALDH4A1:NM_001161504:exon10:c.G906A:p.P302P,ALDH4A1:NM_001319218:exon10:c.G1086A:p.P362P,ALDH4A1:NM_003748:exon10:c.G1086A:p.P362P,ALDH4A1:NM_170726:exon10:c.G1086A:p.P362P
1 19203997 2 ALDH4A1 C G exonic synonymous SNV ALDH4A1:NM_001161504:exon10:c.G870C:p.A290A,ALDH4A1:NM_001319218:exon10:c.G1050C:p.A350A,ALDH4A1:NM_003748:exon10:c.G1050C:p.A350A,ALDH4A1:NM_170726:exon10:c.G1050C:p.A350A
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 19652063 1 PQLC2 G A exonic synonymous SNV PQLC2:NM_001040125:exon4:c.G369A:p.T123T,PQLC2:NM_001040126:exon4:c.G174A:p.T58T,PQLC2:NM_001287531:exon4:c.G36A:p.T12T,PQLC2:NM_017765:exon5:c.G369A:p.T123T
1 20020993 2 TMCO4 A G exonic synonymous SNV TMCO4:NM_001349112:exon14:c.T1434C:p.R478R,TMCO4:NM_001349113:exon15:c.T1434C:p.R478R,TMCO4:NM_181719:exon15:c.T1434C:p.R478R,TMCO4:NM_001349114:exon16:c.T1434C:p.R478R
1 20020994 2 TMCO4 C T exonic nonsynonymous SNV TMCO4:NM_001349112:exon14:c.G1433A:p.R478H,TMCO4:NM_001349113:exon15:c.G1433A:p.R478H,TMCO4:NM_181719:exon15:c.G1433A:p.R478H,TMCO4:NM_001349114:exon16:c.G1433A:p.R478H RS4515815 Aortic valve calcium
1 20982631 2 DDOST G A exonic synonymous SNV DDOST:NM_005216:exon3:c.C366T:p.G122G RS4704 Chronic kidney disease:PROP taste detection threshold:Birth weight:Obesity with early age of onset (age >2):Gene expression of CDA (probeID ILMN_1714592) in cerebellum in Alzheimer's disease cases and controls:Gene expression of CDA (probeID ILMN_1714592) in temporal cortex in Alzheimer's disease cases and controls:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 20987873 2 DDOST G C exonic nonsynonymous SNV DDOST:NM_005216:exon1:c.C22G:p.R8G
1 21050958 2 SH2D5 C T exonic synonymous SNV SH2D5:NM_001103160:exon5:c.G309A:p.Q103Q,SH2D5:NM_001103161:exon6:c.G561A:p.Q187Q RS592060 Total cholesterol change with statins:Methylation levels at chr1:20916568-20916618 [hg18 coord, probe cg15613048] in Temporal cortex:Methylation levels at chr1:20916568-20916618 [hg18 coord, probe cg15613048] in Caudal pons:Methylation levels at chr1:20916568-20916618 [hg18 coord, probe cg15613048] in Frontal cortex:Mitral annular calcium:Advanced age-related macular degeneration:Gene expression of KIF17 (ENSG00000117245) in dendritic cells
1 21167404 2 EIF4G3 A G exonic synonymous SNV EIF4G3:NM_003760:exon25:c.T3838C:p.L1280L,EIF4G3:NM_001198801:exon28:c.T3946C:p.L1316L,EIF4G3:NM_001198802:exon28:c.T3856C:p.L1286L RS7553394 PROP taste detection threshold
1 21806667 2 NBPF3 C G exonic nonsynonymous SNV NBPF3:NM_001256417:exon10:c.C1122G:p.D374E,NBPF3:NM_001256416:exon11:c.C1296G:p.D432E,NBPF3:NM_032264:exon11:c.C1332G:p.D444E,NBPF3:NM_001330381:exon15:c.C1164G:p.D388E
1 21808159 2 NBPF3 G A exonic synonymous SNV NBPF3:NM_001256417:exon12:c.G1293A:p.S431S,NBPF3:NM_001256416:exon13:c.G1467A:p.S489S,NBPF3:NM_032264:exon13:c.G1503A:p.S501S,NBPF3:NM_001330381:exon17:c.G1335A:p.S445S
1 21808207 2 NBPF3 A C exonic synonymous SNV NBPF3:NM_001256417:exon12:c.A1341C:p.G447G,NBPF3:NM_001256416:exon13:c.A1515C:p.G505G,NBPF3:NM_032264:exon13:c.A1551C:p.G517G,NBPF3:NM_001330381:exon17:c.A1383C:p.G461G
1 21808223 2 NBPF3 T C exonic synonymous SNV NBPF3:NM_001256417:exon12:c.T1357C:p.L453L,NBPF3:NM_001256416:exon13:c.T1531C:p.L511L,NBPF3:NM_032264:exon13:c.T1567C:p.L523L,NBPF3:NM_001330381:exon17:c.T1399C:p.L467L
1 21809750 2 NBPF3 T C exonic synonymous SNV NBPF3:NM_001256417:exon14:c.T1563C:p.Y521Y,NBPF3:NM_001256416:exon15:c.T1737C:p.Y579Y,NBPF3:NM_032264:exon15:c.T1773C:p.Y591Y,NBPF3:NM_001330381:exon19:c.T1605C:p.Y535Y
1 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 21943820 1 RAP1GAP G A exonic synonymous SNV RAP1GAP:NM_001145658:exon7:c.C462T:p.Y154Y,RAP1GAP:NM_002885:exon7:c.C270T:p.Y90Y,RAP1GAP:NM_001145657:exon8:c.C270T:p.Y90Y,RAP1GAP:NM_001330383:exon8:c.C270T:p.Y90Y,RAP1GAP:NM_001350524:exon9:c.C270T:p.Y90Y,RAP1GAP:NM_001350525:exon9:c.C270T:p.Y90Y,RAP1GAP:NM_001350527:exon9:c.C270T:p.Y90Y,RAP1GAP:NM_001350528:exon9:c.C270T:p.Y90Y,RAP1GAP:NM_001350526:exon10:c.C270T:p.Y90Y RS2275360 HDL cholesterol change with statins:Triglycerides change with statins:Serum ratio of (cholate)/(tetradecanedioate):Bipolar disorder:Refractive error
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 22149935 2 HSPG2 T C exonic synonymous SNV HSPG2:NM_001291860:exon97:c.A13053G:p.S4351S,HSPG2:NM_005529:exon97:c.A13050G:p.S4350S RS897467 Obesity with early age of onset (age >2):Acute lung injury following major trauma
1 22154845 1 HSPG2 A G exonic synonymous SNV HSPG2:NM_001291860:exon89:c.T12315C:p.D4105D,HSPG2:NM_005529:exon89:c.T12312C:p.D4104D RS2228347 Birth weight:Infant head circumference
1 22157545 1 HSPG2 G A exonic synonymous SNV HSPG2:NM_001291860:exon85:c.C11604T:p.Y3868Y,HSPG2:NM_005529:exon85:c.C11601T:p.Y3867Y
1 22160043 1 HSPG2 C T exonic nonsynonymous SNV HSPG2:NM_001291860:exon79:c.G10898A:p.R3633Q,HSPG2:NM_005529:exon79:c.G10895A:p.R3632Q RS2229493 HDL cholesterol:Years of education
1 22163390 1 HSPG2 G A exonic synonymous SNV HSPG2:NM_001291860:exon75:c.C10263T:p.H3421H,HSPG2:NM_005529:exon75:c.C10260T:p.H3420H
1 22168801 1 HSPG2 T C exonic nonsynonymous SNV HSPG2:NM_001291860:exon68:c.A8986G:p.S2996G,HSPG2:NM_005529:exon68:c.A8983G:p.S2995G
1 22174518 1 HSPG2 G T exonic synonymous SNV HSPG2:NM_001291860:exon60:c.C7809A:p.V2603V,HSPG2:NM_005529:exon60:c.C7806A:p.V2602V RS12737091 HDL cholesterol:Waist hip ratio:Aortic root diameter:Birth weight
1 22179244 1 HSPG2 C T exonic nonsynonymous SNV HSPG2:NM_001291860:exon52:c.G6676A:p.G2226S,HSPG2:NM_005529:exon52:c.G6673A:p.G2225S
1 22180723 1 HSPG2 C T exonic synonymous SNV HSPG2:NM_001291860:exon50:c.G6405A:p.V2135V,HSPG2:NM_005529:exon50:c.G6402A:p.V2134V
1 22181895 1 HSPG2 C T exonic nonsynonymous SNV HSPG2:NM_001291860:exon47:c.G5902A:p.V1968I,HSPG2:NM_005529:exon47:c.G5899A:p.V1967I
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 22214127 1 HSPG2 A G exonic synonymous SNV HSPG2:NM_001291860:exon8:c.T744C:p.L248L,HSPG2:NM_005529:exon8:c.T744C:p.L248L
1 22216574 1 HSPG2 C A exonic synonymous SNV HSPG2:NM_001291860:exon6:c.G474T:p.G158G,HSPG2:NM_005529:exon6:c.G474T:p.G158G RS2254358 Triglycerides change with statins:Cystatin C in serum:Height:Bipolar disorder
1 22216604 1 HSPG2 C G exonic synonymous SNV HSPG2:NM_001291860:exon6:c.G444C:p.L148L,HSPG2:NM_005529:exon6:c.G444C:p.L148L RS2254357 Cystatin C in serum
1 22835677 1 ZBTB40 A G exonic nonsynonymous SNV ZBTB40:NM_001330398:exon7:c.A1448G:p.Y483C,ZBTB40:NM_014870:exon9:c.A1784G:p.Y595C,ZBTB40:NM_001083621:exon10:c.A1784G:p.Y595C RS209729 Schizophrenia:Simpson-Angus Scale:Gene expression of [probe 1850386 centered at chr1:22884236] in blood:Gene expression of ZBTB40 in blood:Refractive error:Obesity with early age of onset (age >2)
1 22846709 2 ZBTB40 G A exonic nonsynonymous SNV ZBTB40:NM_001330398:exon12:c.G2653A:p.V885M,ZBTB40:NM_014870:exon14:c.G2989A:p.V997M,ZBTB40:NM_001083621:exon15:c.G2989A:p.V997M
1 23419283 1 LUZP1 G A exonic nonsynonymous SNV LUZP1:NM_001142546:exon3:c.C1472T:p.T491I,LUZP1:NM_033631:exon4:c.C1472T:p.T491I
1 23419374 1 LUZP1 G T exonic nonsynonymous SNV LUZP1:NM_001142546:exon3:c.C1381A:p.Q461K,LUZP1:NM_033631:exon4:c.C1381A:p.Q461K RS3765407 Gene expression of LUZP1 [probe 221831_at] in lymphoblastoid cell lines:Triglycerides:Body mass index (BMI)
1 23419383 1 LUZP1 C T exonic nonsynonymous SNV LUZP1:NM_001142546:exon3:c.G1372A:p.G458S,LUZP1:NM_033631:exon4:c.G1372A:p.G458S RS477830 Triglycerides:Tardive dyskinesia
1 23419855 1 LUZP1 T C exonic synonymous SNV LUZP1:NM_001142546:exon3:c.A900G:p.T300T,LUZP1:NM_033631:exon4:c.A900G:p.T300T RS1983965 Gene expression of LUZP1 [probe 221831_at] in lymphoblastoid cell lines:Triglycerides:Body mass index (BMI)
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 23847464 2 E2F2 C A exonic nonsynonymous SNV E2F2:NM_004091:exon4:c.G678T:p.Q226H RS2075995 Chronic kidney disease:Asthma:Serum concentration of isoleucine
1 23885498 2 ID3 T C exonic nonsynonymous SNV ID3:NM_002167:exon2:c.A313G:p.T105A RS11574 Height:Body mass index (BMI):Gene expression of ASAP3 (ENSG00000088280) in dendritic cells treated with Mycobacterium tuberculosis:Aortic valve calcium:Gene expression change of ASAP3 (ENSG00000088280) in dendritic cells after treatment with Mycobacterium tuberculosis
1 24134721 1 HMGCL T C exonic synonymous SNV HMGCL:NM_001166059:exon5:c.A441G:p.L147L,HMGCL:NM_000191:exon7:c.A654G:p.L218L RS719400 Total cholesterol:Serum creatinine:Salmonella-induced pyroptosis
1 24194748 1 FUCA1 G C exonic nonsynonymous SNV FUCA1:NM_000147:exon1:c.C29G:p.P10R RS2070956 Gene expression change of FUCA1 (ENSG00000179163) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of FUCA1 (ENSG00000179163) in dendritic cells treated with Mycobacterium tuberculosis
1 24194773 1 FUCA1 G A exonic nonsynonymous SNV FUCA1:NM_000147:exon1:c.C4T:p.R2W
1 24406535 1 MYOM3 G A exonic nonsynonymous SNV MYOM3:NM_152372:exon20:c.C2557T:p.P853S
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 24460797 2 IL22RA1 T G exonic synonymous SNV IL22RA1:NM_021258:exon4:c.A435C:p.P145P
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 24981439 1 SRRM1 A G exonic synonymous SNV SRRM1:NM_001303448:exon9:c.A1134G:p.T378T,SRRM1:NM_001303449:exon9:c.A1017G:p.T339T,SRRM1:NM_005839:exon9:c.A1134G:p.T378T
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 26496651 1 ZNF593 T C exonic synonymous SNV ZNF593:NM_015871:exon1:c.T177C:p.G59G RS7087 Height:Waist hip ratio:Infant head circumference
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 27210721 2 GPN2 T C exonic nonsynonymous SNV GPN2:NM_018066:exon4:c.A790G:p.R264G RS3170660 HDL cholesterol:Triglycerides:LDL cholesterol
1 27278521 1 KDF1 G A exonic synonymous SNV KDF1:NM_152365:exon2:c.C351T:p.D117D RS3010110 Serum creatinine:Gene expression of GPATC3 [probe ILMN_8756] in osteoblasts with treatment interaction:Gene expression of ZDHHC18 [probe ILMN_25231] in untreated osteoblasts:Gene expression of ARID1A in blood:Gene expression of ZDHHC18 in blood:Paternal transmission distortion:Transmission distortion:Adiponectin levels
1 27278553 1 KDF1 G A exonic nonsynonymous SNV KDF1:NM_152365:exon2:c.C319T:p.R107W RS3010109 Gene expression change of GPN2 (ENSG00000142751) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of GPN2 (ENSG00000142751) in dendritic cells treated with Mycobacterium tuberculosis
1 27320356 2 TRNP1 T C exonic nonsynonymous SNV TRNP1:NM_001013642:exon1:c.T79C:p.W27R
1 27427041 1 SLC9A1 T C exonic synonymous SNV SLC9A1:NM_003047:exon12:c.A2205G:p.E735E RS4418629 LDL cholesterol:HDL cholesterol:LDL cholesterol change with statins:Advanced age-related macular degeneration:Adiponectin levels
1 27679797 1 SYTL1 A G exonic nonsynonymous SNV SYTL1:NM_001193308:exon14:c.A1367G:p.Q456R,SYTL1:NM_032872:exon14:c.A1331G:p.Q444R RS3813795 Eye color:Rheumatoid arthritis:LDL cholesterol:Premature ovarian failure:Barnes Akathisia Rating Scale:Gene expression of MAP3K6 in liver:Gene expression of SYTL1 in blood:Gene expression of MAP3K6 in blood:Birth weight:Pulmonary arterial hypertension (PAH):Adiponectin levels
1 27680292 1 SYTL1 A G exonic synonymous SNV SYTL1:NM_001193308:exon15:c.A1638G:p.E546E,SYTL1:NM_032872:exon15:c.A1602G:p.E534E RS8533 Total cholesterol:Adiponectin levels
1 27875824 2 AHDC1 C T exonic nonsynonymous SNV AHDC1:NM_001029882:exon6:c.G2803A:p.A935T RS4908364 Cystatin C in serum
1 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 28800380 1 PHACTR4 C A exonic nonsynonymous SNV PHACTR4:NM_023923:exon6:c.C1168A:p.L390I,PHACTR4:NM_001048183:exon7:c.C1138A:p.L380I,PHACTR4:NM_001350158:exon8:c.C1162A:p.L388I,PHACTR4:NM_001350160:exon8:c.C1138A:p.L380I,PHACTR4:NM_001350161:exon8:c.C1090A:p.L364I,PHACTR4:NM_001350159:exon9:c.C1162A:p.L388I RS61785974 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 28861636 1 RCC1 G A exonic synonymous SNV RCC1:NM_001269:exon5:c.G516A:p.V172V,RCC1:NM_001048194:exon6:c.G609A:p.V203V,RCC1:NM_001048195:exon6:c.G567A:p.V189V,RCC1:NM_001048199:exon7:c.G516A:p.V172V RS2066726 Gene expression of PHACTR4 in Cerebellum:Gene expression of ATPIF1 in Caudal pons:Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration (geographic atrophy):Years of education
1 28891260 1 TRNAU1AP T C exonic synonymous SNV TRNAU1AP:NM_017846:exon5:c.T324C:p.D108D
1 29475341 2 SRSF4 C T exonic nonsynonymous SNV SRSF4:NM_005626:exon6:c.G1066A:p.G356S RS2230678 Stabilized warfarin dose:Premature ovarian failure:2 hour glucose:Total cholesterol:Autism with verbal ability:Autism:HDL cholesterol:Infant head circumference:Transmission distortion:Mitral annular calcium
1 29475394 2 SRSF4 C G exonic nonsynonymous SNV SRSF4:NM_005626:exon6:c.G1013C:p.G338A RS2230677 Total cholesterol:Autism with verbal ability:Autism:HDL cholesterol:Infant head circumference:Mitral annular calcium
1 29475648 2 SRSF4 T G exonic nonsynonymous SNV SRSF4:NM_005626:exon6:c.A759C:p.E253D RS2230679 Autism
1 29529699 2 MECR T C exonic synonymous SNV MECR:NM_001024732:exon5:c.A369G:p.A123A,MECR:NM_001349717:exon5:c.A447G:p.A149A,MECR:NM_016011:exon5:c.A597G:p.A199A,MECR:NM_001349714:exon6:c.A369G:p.A123A,MECR:NM_001349715:exon6:c.A702G:p.A234A,MECR:NM_001349716:exon6:c.A681G:p.A227A,MECR:NM_001349712:exon7:c.A369G:p.A123A,MECR:NM_001349713:exon7:c.A369G:p.A123A,MECR:NM_001349711:exon8:c.A369G:p.A123A RS1062924 Triglycerides change with statins:Total cholesterol:HDL cholesterol:Mitral annular calcium:Infant head circumference
1 29542637 2 MECR A G exonic nonsynonymous SNV MECR:NM_001024732:exon3:c.T58C:p.F20L,MECR:NM_001349717:exon3:c.T136C:p.F46L,MECR:NM_016011:exon3:c.T286C:p.F96L,MECR:NM_001349714:exon4:c.T58C:p.F20L,MECR:NM_001349715:exon4:c.T391C:p.F131L,MECR:NM_001349716:exon4:c.T370C:p.F124L,MECR:NM_001349712:exon5:c.T58C:p.F20L,MECR:NM_001349713:exon5:c.T58C:p.F20L,MECR:NM_001349711:exon6:c.T58C:p.F20L RS1128400 Premature ovarian failure:Triglycerides change with statins:Triglycerides change with statins:Total cholesterol:Autism:HDL cholesterol:Gene expression of SFRS4 in blood:Transmission distortion:Mitral annular calcium:Maternal transmission distortion:Paternal transmission distortion:Infant head circumference
1 30872602 2
1 31426815 2 PUM1 A G exonic synonymous SNV PUM1:NM_001020658:exon15:c.T2337C:p.N779N,PUM1:NM_014676:exon15:c.T2337C:p.N779N RS2275741 LDL cholesterol:Adiponectin levels
1 31898234 2 SERINC2 T C exonic synonymous SNV SERINC2:NM_001199037:exon4:c.T462C:p.I154I,SERINC2:NM_018565:exon4:c.T462C:p.I154I,SERINC2:NM_178865:exon4:c.T450C:p.I150I,SERINC2:NM_001199038:exon5:c.T477C:p.I159I,SERINC2:NM_001199039:exon5:c.T285C:p.I95I RS4949402 Alcohol dependence:Alcohol dependence:Comorbid depressive syndrome and alcohol dependence:PROP taste detection threshold:Alcohol dependence:Refractive error
1 31898639 1 SERINC2 C T exonic synonymous SNV SERINC2:NM_001199037:exon5:c.C501T:p.G167G,SERINC2:NM_018565:exon5:c.C501T:p.G167G,SERINC2:NM_178865:exon5:c.C489T:p.G163G,SERINC2:NM_001199038:exon6:c.C516T:p.G172G,SERINC2:NM_001199039:exon6:c.C324T:p.G108G
1 31898687 1 SERINC2 C T exonic synonymous SNV SERINC2:NM_001199037:exon5:c.C549T:p.I183I,SERINC2:NM_018565:exon5:c.C549T:p.I183I,SERINC2:NM_178865:exon5:c.C537T:p.I179I,SERINC2:NM_001199038:exon6:c.C564T:p.I188I,SERINC2:NM_001199039:exon6:c.C372T:p.I124I
1 31905924 1 SERINC2 G A exonic nonsynonymous SNV SERINC2:NM_001199037:exon9:c.G1136A:p.R379Q,SERINC2:NM_018565:exon9:c.G1136A:p.R379Q,SERINC2:NM_178865:exon9:c.G1124A:p.R375Q,SERINC2:NM_001199038:exon10:c.G1151A:p.R384Q,SERINC2:NM_001199039:exon10:c.G959A:p.R320Q
1 32096265 1 PEF1 A G exonic synonymous SNV PEF1:NM_012392:exon5:c.T804C:p.I268I
1 32669918 1 CCDC28B G A exonic nonsynonymous SNV CCDC28B:NM_001301011:exon4:c.G463A:p.G155R,CCDC28B:NM_024296:exon4:c.G463A:p.G155R
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 33235651 2 KIAA1522 A G exonic nonsynonymous SNV KIAA1522:NM_001198972:exon6:c.A694G:p.M232V,KIAA1522:NM_020888:exon6:c.A871G:p.M291V RS12730560 Fasting insulin:Gene expression of S100PBP in blood:Serum ratio of (2-tetradecenoyl carnitine)/(gamma-tocopherol):PROP taste detection threshold:Bipolar disorder:Infant head circumference
1 33236360 1 KIAA1522 G A exonic nonsynonymous SNV KIAA1522:NM_001198972:exon6:c.G1403A:p.R468H,KIAA1522:NM_020888:exon6:c.G1580A:p.R527H
1 33245802 2 YARS C G exonic synonymous SNV YARS:NM_003680:exon11:c.G1218C:p.L406L RS699005 HOMA-B:Fasting insulin:Infant head circumference
1 33402515 2 RNF19B C T exonic synonymous SNV RNF19B:NM_001300826:exon9:c.G2088A:p.S696S,RNF19B:NM_153341:exon9:c.G2091A:p.S697S
1 33402542 2 RNF19B G C exonic synonymous SNV RNF19B:NM_001300826:exon9:c.C2061G:p.P687P,RNF19B:NM_153341:exon9:c.C2064G:p.P688P
1 35864490 1 ZMYM4 T C exonic synonymous SNV ZMYM4:NM_001350140:exon20:c.T2307C:p.D769D,ZMYM4:NM_005095:exon22:c.T3279C:p.D1093D,ZMYM4:NM_001350138:exon23:c.T3183C:p.D1061D,ZMYM4:NM_001350139:exon23:c.T2307C:p.D769D
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 36553673 2 TEKT2 A G exonic synonymous SNV TEKT2:NM_014466:exon10:c.A1179G:p.T393T RS399393 HOMA-B:Fasting insulin:HOMA-IR:LDL cholesterol:Waist hip ratio
1 36557619 1 ADPRHL2 G A exonic nonsynonymous SNV ADPRHL2:NM_017825:exon4:c.G625A:p.E209K RS2236387 Tardive dyskinesia:Abnormal Involuntary Movement Scale:Comorbid depressive syndrome and alcohol dependence
1 36638206 1 MAP7D1 G A exonic nonsynonymous SNV MAP7D1:NM_001286365:exon4:c.G602A:p.R201Q,MAP7D1:NM_001286366:exon4:c.G602A:p.R201Q,MAP7D1:NM_018067:exon4:c.G602A:p.R201Q
1 36642420 2 MAP7D1 T C exonic synonymous SNV MAP7D1:NM_001286365:exon7:c.T1245C:p.S415S,MAP7D1:NM_018067:exon8:c.T1356C:p.S452S,MAP7D1:NM_001286366:exon9:c.T1260C:p.S420S
1 36752433 2 THRAP3 C T exonic nonsynonymous SNV THRAP3:NM_001321473:exon4:c.C602T:p.A201V,THRAP3:NM_005119:exon4:c.C602T:p.A201V,THRAP3:NM_001321471:exon5:c.C602T:p.A201V RS6425977 Spine bone mineral density (BMD):HDL cholesterol change with statins:Waist hip ratio:Gene expression of MAP7D1 in blood:Serum concentration of creatine:Diabetic retinopathy in Type 2 diabetes mellitus
1 38148765 1 C1orf109 A G exonic nonsynonymous SNV C1orf109:NM_001350755:exon5:c.T835C:p.Y279H,C1orf109:NM_001350756:exon5:c.T832C:p.Y278H,C1orf109:NM_001350760:exon5:c.T646C:p.Y216H,C1orf109:NM_001350761:exon5:c.T646C:p.Y216H,C1orf109:NM_001350764:exon5:c.T646C:p.Y216H,C1orf109:NM_001350762:exon7:c.T646C:p.Y216H,C1orf109:NM_001350763:exon7:c.T646C:p.Y216H RS684260 Neuroticism:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Birth weight
1 38449910 1 SF3A3 T C exonic synonymous SNV SF3A3:NM_001320830:exon4:c.A240G:p.E80E,SF3A3:NM_006802:exon6:c.A399G:p.E133E
1 38485007 1 UTP11 C T exonic synonymous SNV UTP11:NM_016037:exon6:c.C519T:p.T173T
1 39466726 1 AKIRIN1 T C exonic synonymous SNV AKIRIN1:NM_024595:exon3:c.T444C:p.Y148Y
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 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 40705726 1 RLF A T exonic nonsynonymous SNV RLF:NM_012421:exon8:c.A5352T:p.E1784D RS10889205 Gene expression of CAP1 [probe 213798_s_at] in lymphoblastoid cell lines:HDL cholesterol:Triglycerides:Serum creatinine:Triglycerides
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 40766943 1 COL9A2 G T exonic nonsynonymous SNV COL9A2:NM_001852:exon32:c.C1981A:p.P661T
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 41327705 1 CITED4 A T exonic nonsynonymous SNV CITED4:NM_133467:exon1:c.T95A:p.L32Q
1 42693597 1 FOXJ3 A G exonic nonsynonymous SNV FOXJ3:NM_001198850:exon5:c.T485C:p.V162A,FOXJ3:NM_001198852:exon5:c.T485C:p.V162A,FOXJ3:NM_014947:exon5:c.T485C:p.V162A,FOXJ3:NM_001198851:exon7:c.T485C:p.V162A RS343376 Differential exon level expression of FOXJ3 [probe 2408886] in brain cortex:Differential exon level expression of FOXJ3 [probe 2408880] in brain cortex:Differential exon level expression of FOXJ3 [probe 2408896] in brain cortex:Differential exon level expression of GUCA2B [probe 2332488] in brain cortex:2 hour glucose:Chronic kidney disease:Lp-PLA2 mass:Height:Waist hip ratio:Neuroblastoma (brain cancer):Adiponectin levels:Obsessive-compulsive disorder (OCD)
1 43201534 1 CLDN19 G A exonic nonsynonymous SNV CLDN19:NM_001185117:exon3:c.C556T:p.R186C
1 43212431 2 P3H1 A G exonic synonymous SNV P3H1:NM_022356:exon15:c.T2148C:p.G716G
1 43212680 1 P3H1 G A exonic nonsynonymous SNV P3H1:NM_001243246:exon14:c.C2318T:p.T773I
1 43408966 1 SLC2A1 G A exonic synonymous SNV SLC2A1:NM_006516:exon2:c.C45T:p.A15A RS1385129 2 hour glucose:Fasting blood glucose:Rheumatoid arthritis:Acute lung injury following major trauma
1 44071221 1 PTPRF G A exonic synonymous SNV PTPRF:NM_001329140:exon16:c.G2499A:p.V833V,PTPRF:NM_001329139:exon17:c.G2526A:p.V842V,PTPRF:NM_130440:exon18:c.G3384A:p.V1128V,PTPRF:NM_001329137:exon19:c.G2544A:p.V848V,PTPRF:NM_002840:exon19:c.G3411A:p.V1137V,PTPRF:NM_001329138:exon20:c.G2556A:p.V852V RS631248 Fasting blood glucose:LDL cholesterol:Total cholesterol:Gene expression of CCDC24 in peripheral blood monocytes
1 44083507 1 PTPRF T C exonic synonymous SNV PTPRF:NM_001329140:exon22:c.T3384C:p.G1128G,PTPRF:NM_001329139:exon24:c.T3444C:p.G1148G,PTPRF:NM_130440:exon24:c.T4269C:p.G1423G,PTPRF:NM_002840:exon25:c.T4296C:p.G1432G,PTPRF:NM_001329137:exon26:c.T3462C:p.G1154G,PTPRF:NM_001329138:exon28:c.T3486C:p.G1162G RS641365 Irritible bowel syndrome:Simpson-Angus Scale:Total cholesterol:LDL cholesterol:Lp-PLA2 activity:Gene expression of CCDC24 in peripheral blood monocytes:Gene expression of GPR146 in peripheral blood monocytes:Serum ratio of (lathosterol)/(scyllo-inositol):Diastolic blood pressure (DBP):Years of education
1 44083519 1 PTPRF G A exonic synonymous SNV PTPRF:NM_001329140:exon22:c.G3396A:p.R1132R,PTPRF:NM_001329139:exon24:c.G3456A:p.R1152R,PTPRF:NM_130440:exon24:c.G4281A:p.R1427R,PTPRF:NM_002840:exon25:c.G4308A:p.R1436R,PTPRF:NM_001329137:exon26:c.G3474A:p.R1158R,PTPRF:NM_001329138:exon28:c.G3498A:p.R1166R
1 44084739 1 PTPRF C T exonic synonymous SNV PTPRF:NM_001329140:exon24:c.C3600T:p.R1200R,PTPRF:NM_001329139:exon26:c.C3660T:p.R1220R,PTPRF:NM_130440:exon26:c.C4485T:p.R1495R,PTPRF:NM_002840:exon27:c.C4512T:p.R1504R,PTPRF:NM_001329137:exon28:c.C3678T:p.R1226R,PTPRF:NM_001329138:exon30:c.C3702T:p.R1234R
1 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 44137257 1 KDM4A C A exonic nonsynonymous SNV KDM4A:NM_014663:exon11:c.C1445A:p.A482E RS586339 Simpson-Angus Scale:Fasting blood glucose:Years of education:Refractive error
1 44415415 1 IPO13 C T exonic synonymous SNV IPO13:NM_014652:exon2:c.C411T:p.D137D
1 44415424 1 IPO13 A G exonic synonymous SNV IPO13:NM_014652:exon2:c.A420G:p.P140P
1 44440769 1 ATP6V0B G C exonic synonymous SNV ATP6V0B:NM_001294333:exon1:c.G57C:p.A19A,ATP6V0B:NM_004047:exon1:c.G57C:p.A19A
1 44447413 1 B4GALT2 G C exonic nonsynonymous SNV B4GALT2:NM_001005417:exon3:c.G366C:p.Q122H,B4GALT2:NM_003780:exon3:c.G366C:p.Q122H,B4GALT2:NM_030587:exon3:c.G453C:p.Q151H RS1859728 HDL cholesterol
1 44451234 1 B4GALT2 C T exonic synonymous SNV B4GALT2:NM_001005417:exon6:c.C909T:p.I303I,B4GALT2:NM_003780:exon6:c.C909T:p.I303I,B4GALT2:NM_030587:exon6:c.C996T:p.I332I
1 44461822 1 CCDC24 C T exonic nonsynonymous SNV CCDC24:NM_001349129:exon7:c.C512T:p.A171V,CCDC24:NM_001349128:exon8:c.C950T:p.A317V,CCDC24:NM_001349127:exon9:c.C910T:p.P304S,CCDC24:NM_152499:exon9:c.C914T:p.A305V
1 45218895 1 KIF2C A T exonic synonymous SNV KIF2C:NM_001297656:exon5:c.A369T:p.R123R,KIF2C:NM_001297657:exon5:c.A192T:p.R64R,KIF2C:NM_006845:exon6:c.A531T:p.R177R RS3795713 Cystatin C in serum:Gene expression of UROD in peripheral blood monocytes:Serum ratio of (phenylacetate)/(theobromine):Transmission distortion
1 45224998 1 KIF2C A C exonic nonsynonymous SNV KIF2C:NM_001297655:exon13:c.A1222C:p.I408L,KIF2C:NM_001297656:exon13:c.A1183C:p.I395L,KIF2C:NM_001297657:exon13:c.A1006C:p.I336L,KIF2C:NM_006845:exon14:c.A1345C:p.I449L RS4342887 Gene expression of NCRNA00082 in blood:Gene expression of RNU5D-1 in normal prepouch ileum
1 45226084 1 KIF2C G A exonic synonymous SNV KIF2C:NM_001297655:exon14:c.G1377A:p.A459A,KIF2C:NM_001297656:exon14:c.G1338A:p.A446A,KIF2C:NM_001297657:exon14:c.G1161A:p.A387A,KIF2C:NM_006845:exon15:c.G1500A:p.A500A RS1140279 Gene expression of RNU5D-1 in normal prepouch ileum:Gene expression of KIF2C (ENSG00000142945) in dendritic cells treated with Mycobacterium tuberculosis
1 45270024 1 PLK3 G C exonic synonymous SNV PLK3:NM_004073:exon12:c.G1356C:p.P452P RS11211036 Carboplatin IC50 in B lymphoblastoid cell lines:Gene expression of PLK3 (ENSG00000173846) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression change of KIF2C (ENSG00000142945) in dendritic cells after treatment with Mycobacterium tuberculosis
1 45444038 2 EIF2B3 G A exonic synonymous SNV EIF2B3:NM_001166588:exon3:c.C243T:p.D81D,EIF2B3:NM_001261418:exon3:c.C243T:p.D81D,EIF2B3:NM_020365:exon3:c.C243T:p.D81D RS11556200 Fasting blood glucose:Triglycerides change with statins:HDL cholesterol change with statins:Gene expression of UROD in peripheral blood monocytes:Gene expression of PTHLH in peripheral blood monocytes:Height:Serum ratio of (1-eicosatrienoylglycerophosphocholine*)/(glycerol):Infant head circumference
1 45469176 1 HECTD3 A T exonic synonymous SNV HECTD3:NM_024602:exon21:c.T2574A:p.P858P
1 45476663 2 HECTD3 G A exonic synonymous SNV HECTD3:NM_024602:exon1:c.C267T:p.L89L
1 45800156 1 MUTYH C T exonic nonsynonymous SNV MUTYH:NM_001048171:exon2:c.G64A:p.V22M,MUTYH:NM_001048172:exon2:c.G22A:p.V8M,MUTYH:NM_001048173:exon2:c.G22A:p.V8M,MUTYH:NM_001048174:exon2:c.G22A:p.V8M,MUTYH:NM_001128425:exon2:c.G64A:p.V22M,MUTYH:NM_001293190:exon2:c.G64A:p.V22M,MUTYH:NM_001293191:exon2:c.G22A:p.V8M,MUTYH:NM_012222:exon2:c.G64A:p.V22M,MUTYH:NM_001293195:exon3:c.G22A:p.V8M RS3219484 Celiac disease:Serum creatinine:Gene expression of UROD in peripheral blood monocytes:LDL cholesterol:Gene expression of TOE1///TESK2 in blood:Serum ratio of (phenylacetylglutamine)/(riboflavin (Vitamin B2)):Serum concentration of erythrose
1 45806768 1 TOE1 T G exonic nonsynonymous SNV TOE1:NM_025077:exon2:c.T76G:p.S26A
1 45810865 1 TESK2 G A exonic nonsynonymous SNV TESK2:NM_001320800:exon10:c.C1114T:p.R372C,TESK2:NM_007170:exon11:c.C1363T:p.R455C
1 45973928 1 MMACHC G A exonic synonymous SNV MMACHC:NM_001330540:exon3:c.G150A:p.V50V,MMACHC:NM_015506:exon3:c.G321A:p.V107V RS2275276 Gene expression of Hs.396207 in CHB-JPT lymphoblastoid cell lines:Gene expression of probe 1560263_at in lymphoblastoid cell lines:Gene expression of MUTYH [probe 207727_s_at] in lymphoblastoid cell lines:Fasting blood glucose:HDL cholesterol:Gene expression of UROD [probe 208971_at] in prefrontal cortex:Lp-PLA2 mass:Gene expression of MUTYH in peripheral blood monocytes:Gene expression of NASP in peripheral blood monocytes:Gene expression of UROD in peripheral blood monocytes:Gene expression of TESK2 in peripheral blood monocytes:Gene expression of MRPS22 in peripheral blood monocytes:Autism:Autism without verbal ability:Height:Serum concentration of heme*:Gene expression of MMACHC (probeID ILMN_1803005) in cerebellum in Alzheimer's disease cases and controls:Diabetic retinopathy in Type 2 diabetes mellitus:Gene expression of MMACHC (probeID ILMN_1803005) in temporal cortex in Alzheimer's disease cases and controls
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 46078854 2 NASP A G exonic synonymous SNV NASP:NM_001195193:exon5:c.A1248G:p.S416S,NASP:NM_152298:exon6:c.A423G:p.S141S,NASP:NM_002482:exon7:c.A1440G:p.S480S RS2230658 Gene expression of Hs.396207 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of Hs.390503 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of IPP in CEU-CHB-JPT-YRI lymphoblastoid cell lines:HOMA-IR:Fasting blood glucose:Fasting insulin:Cystatin C in serum:Serum creatinine:Autism:Height:Body mass index (BMI):Gene expression of IPP (probeID ILMN_1789106) in temporal cortex in Alzheimer's disease cases and controls:Years of education:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Aortic valve calcium:Gene expression of IPP (probeID ILMN_1789106) in cerebellum in Alzheimer's disease cases and controls
1 46078884 2 NASP C T exonic synonymous SNV NASP:NM_001195193:exon5:c.C1278T:p.T426T,NASP:NM_152298:exon6:c.C453T:p.T151T,NASP:NM_002482:exon7:c.C1470T:p.T490T RS2230659 Gene expression of IPP in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of Hs.396207 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of IPP [probe 219843_at] in lymphoblastoid cell lines:Gene expression of IPP [probe 1554740_a_at] in lymphoblastoid cell lines:Gene expression of probe 1560263_at in lymphoblastoid cell lines:Gene expression of IPP in lymphoblastoid cell lines:Gene expression of SP192 in lymphoblastoid cell lines:HOMA-IR:Fasting blood glucose:Fasting insulin:Cystatin C in serum:Serum creatinine:Height:Body mass index (BMI):Aortic valve calcium:Gene expression of IPP (probeID ILMN_1789106) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of IPP (probeID ILMN_1789106) in cerebellum in Alzheimer's disease cases and controls:Years of education
1 46476587 1 MAST2 T G exonic nonsynonymous SNV MAST2:NM_001319245:exon10:c.T1164G:p.D388E,MAST2:NM_001324321:exon10:c.T702G:p.D234E,MAST2:NM_015112:exon10:c.T1164G:p.D388E,MAST2:NM_001324320:exon11:c.T1185G:p.D395E RS11211247 HOMA-B:Gene expression of NASP in peripheral blood monocytes:HDL cholesterol:Waist hip ratio:Serum concentration of acetylphosphate:Birth weight:Transmission distortion:Paternal transmission distortion:Advanced age-related macular degeneration
1 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 46496709 2 MAST2 A G exonic synonymous SNV MAST2:NM_001319245:exon23:c.A2739G:p.S913S,MAST2:NM_001324321:exon23:c.A2277G:p.S759S,MAST2:NM_015112:exon23:c.A2739G:p.S913S,MAST2:NM_001324320:exon24:c.A2760G:p.S920S RS925524 Gene expression of Hs.396207 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of IPP [probe 219843_at] in lymphoblastoid cell lines:Gene expression of probe 1560263_at in lymphoblastoid cell lines:Fasting blood glucose:HOMA-IR:Cystatin C in serum:Rheumatoid arthritis:Height:Body mass index (BMI):Lung function, forced expiratory volume in 1 second (FEV1) percent predicted (in asthmatic participants):Years of education
1 46498375 2 MAST2 A G exonic synonymous SNV MAST2:NM_001319245:exon26:c.A3522G:p.V1174V,MAST2:NM_001324321:exon26:c.A3060G:p.V1020V,MAST2:NM_015112:exon26:c.A3522G:p.V1174V,MAST2:NM_001324320:exon27:c.A3543G:p.V1181V RS1622208 Gene expression of IPP in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of Hs.396207 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of IPP [probe 219843_at] in lymphoblastoid cell lines:Gene expression of probe 1560263_at in lymphoblastoid cell lines:Gene expression of SP192 in lymphoblastoid cell lines:Gene expression of IPP in lymphoblastoid cell lines:Hip bone mineral density (BMD):Rheumatoid arthritis:Longstanding arthritis:Arthritis including non-Rheumatoid:HOMA-IR:Fasting insulin:Fasting blood glucose:Cystatin C in serum:Rheumatoid arthritis:Height:Body mass index (BMI):Comorbid depressive syndrome and alcohol dependence:Hypertension (early onset hypertension):Years of education:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Obesity with early age of onset (age >2)
1 46500613 1 MAST2 T C exonic synonymous SNV MAST2:NM_001319245:exon29:c.T4269C:p.T1423T,MAST2:NM_001324321:exon29:c.T3810C:p.T1270T,MAST2:NM_015112:exon29:c.T4272C:p.T1424T,MAST2:NM_001324320:exon30:c.T4293C:p.T1431T
1 46501359 1 MAST2 A G exonic nonsynonymous SNV MAST2:NM_001319245:exon29:c.A5015G:p.K1672R,MAST2:NM_001324321:exon29:c.A4556G:p.K1519R,MAST2:NM_015112:exon29:c.A5018G:p.K1673R,MAST2:NM_001324320:exon30:c.A5039G:p.K1680R
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 46660295 1 POMGNT1 T C exonic synonymous SNV POMGNT1:NM_001290129:exon7:c.A615G:p.K205K,POMGNT1:NM_001290130:exon7:c.A252G:p.K84K,POMGNT1:NM_001243766:exon8:c.A681G:p.K227K,POMGNT1:NM_017739:exon8:c.A681G:p.K227K RS2292487 Gene expression of FAAH in blood:Gene expression of NSUN4 in blood:Gene expression of C1orf190 [probeset 235214_at] in sputum:Obesity with early age of onset (age >2):Decrease in FEV1/FVC ratio (in asthmatic participants):Maternal transmission distortion
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 46870761 1 FAAH C A exonic nonsynonymous SNV FAAH:NM_001441:exon3:c.C385A:p.P129T RS324420 Stabilized warfarin dose:Barnes Akathisia Rating Scale:Neuroblastoma (brain cancer):Late onset Alzheimer's disease:Gene expression of MOBKL2C in blood:Gene expression of FAAH in blood:Gene expression of MKNK1 in blood:Gene expression of NSUN4 in blood:Serum ratio of (allantoin)/(fructose):Comorbid depressive syndrome and alcohol dependence:Years of education:Tetrology of fallot
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 48697733 2 SLC5A9 T G exonic nonsynonymous SNV SLC5A9:NM_001011547:exon7:c.T807G:p.I269M,SLC5A9:NM_001135181:exon8:c.T882G:p.I294M
1 48697751 1 SLC5A9 C T exonic synonymous SNV SLC5A9:NM_001011547:exon7:c.C825T:p.S275S,SLC5A9:NM_001135181:exon8:c.C900T:p.S300S
1 48847497 2
1 51873951 1 EPS15 G A exonic synonymous SNV EPS15:NM_001159969:exon3:c.C387T:p.Y129Y,EPS15:NM_001981:exon15:c.C1329T:p.Y443Y RS1065754 Spine bone mineral density (BMD):Irritible bowel syndrome:Gene expression of EPS15 in blood
1 52264064 1 NRDC A G exonic synonymous SNV NRDC:NM_001101662:exon22:c.T2461C:p.L821L,NRDC:NM_001242361:exon24:c.T2269C:p.L757L,NRDC:NM_002525:exon24:c.T2665C:p.L889L RS1770791 LDL cholesterol:Simpson-Angus Scale:Abnormal Involuntary Movement Scale:Gene expression of CC2D1B in peripheral blood monocytes:Autism:Gene expression of NRD1 [transcript NM_001101662, probe A_23_P23006] in liver:Alcohol dependence:Gene expression of NRD1 in blood:Serum ratio of (3-methoxytyrosine)/(bilirubin (Z,Z)):Serum ratio of (1-palmitoylglycerophosphocholine)/(3-methoxytyrosine):Comorbid depressive syndrome and alcohol dependence:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Hypertension (early onset hypertension)
1 52266242 1 NRDC G A exonic synonymous SNV NRDC:NM_001101662:exon21:c.C2427T:p.P809P,NRDC:NM_001242361:exon23:c.C2235T:p.P745P,NRDC:NM_002525:exon23:c.C2631T:p.P877P RS8375 Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Birth weight:Years of education:Parkinson's disease
1 52290984 1 NRDC T G exonic synonymous SNV NRDC:NM_001101662:exon6:c.A1011C:p.G337G,NRDC:NM_001242361:exon8:c.A819C:p.G273G,NRDC:NM_002525:exon8:c.A1215C:p.G405G RS11205896 HDL cholesterol change with statins:Nicotine dependence (smoking), cigarettes per day:Waist hip ratio:Parkinson's disease:Birth weight
1 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 53072454 2 GPX7 T C exonic synonymous SNV GPX7:NM_015696:exon2:c.T237C:p.F79F
1 53250650 2 ZYG11B G A exonic synonymous SNV ZYG11B:NM_024646:exon5:c.G1194A:p.G398G
1 53563589 2
1 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 54359922 1 DIO1 C T exonic synonymous SNV DIO1:NM_001039715:exon1:c.C39T:p.L13L,DIO1:NM_001324316:exon1:c.C39T:p.L13L
1 54432019 1 LRRC42 G A exonic synonymous SNV LRRC42:NM_052940:exon7:c.G978A:p.E326E,LRRC42:NM_001256409:exon8:c.G978A:p.E326E RS2294514 Total cholesterol:Triglycerides change with statins:Gene expression of C1orf41 [probe 215691_x_at] in prefrontal cortex:Rheumatoid arthritis:Waist hip ratio:Serum ratio of (arabinose)/(glutaroyl carnitine):Maternal transmission distortion
1 55072915 1 ACOT11 G A exonic synonymous SNV ACOT11:NM_015547:exon14:c.G1479A:p.S493S,ACOT11:NM_147161:exon14:c.G1479A:p.S493S
1 55075122 1 FAM151A C G exonic nonsynonymous SNV FAM151A:NM_176782:exon8:c.G1577C:p.G526A RS11206394 Total cholesterol:Systolic blood pressure (SBP):Infant head circumference
1 55075341 1 FAM151A G A exonic nonsynonymous SNV FAM151A:NM_176782:exon8:c.C1358T:p.S453L
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 55319902 1 DHCR24 A G exonic synonymous SNV DHCR24:NM_014762:exon7:c.T1026C:p.I342I RS718265 Gene expression of SUV420H2 in peripheral blood monocytes:Serum ratio of (laurylcarnitine)/(phenyllactate (PLA)):Transmission distortion
1 55523033 2 PCSK9 A G exonic synonymous SNV PCSK9:NM_174936:exon7:c.A1026G:p.Q342Q
1 55524197 2 PCSK9 A G exonic synonymous SNV PCSK9:NM_174936:exon9:c.A1380G:p.V460V RS540796 LDL cholesterol:Total cholesterol change with statins:Total cholesterol:LDL cholesterol:College completion
1 55524237 2 PCSK9 G A exonic nonsynonymous SNV PCSK9:NM_174936:exon9:c.G1420A:p.V474I RS562556 HDL cholesterol:Total cholesterol change with statins:Total cholesterol:LDL cholesterol:College completion:LDL cholesterol
1 55529187 2 PCSK9 G A exonic nonsynonymous SNV PCSK9:NM_174936:exon12:c.G2009A:p.G670E RS505151 LDL cholesterol:LDL cholesterol change with statins:2 hour glucose:Total cholesterol:LDL cholesterol:Total cholesterol:Serum ratio of (gamma-glutamylisoleucine*)/(paraxanthine):Comorbid depressive syndrome and alcohol dependence:LDL cholesterol:LDL cholesterol:LDL cholesterol:Total cholesterol
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 57340727 1 C8A C A exonic nonsynonymous SNV C8A:NM_000562:exon3:c.C277A:p.Q93K RS652785 Hip bone mineral density (BMD):LDL cholesterol:HDL cholesterol change with statins:Hypertension (early onset hypertension)
1 57422484 2 C8B C T exonic nonsynonymous SNV C8B:NM_000066:exon3:c.G349A:p.G117R,C8B:NM_001278543:exon4:c.G193A:p.G65R,C8B:NM_001278544:exon4:c.G163A:p.G55R RS1013579 Abnormal Involuntary Movement Scale:LDL cholesterol:Total cholesterol:Asthma
1 59148118 1 MYSM1 A T exonic nonsynonymous SNV MYSM1:NM_001085487:exon8:c.T598A:p.C200S RS17118103 Height
1 60019853 1 FGGY C T exonic nonsynonymous SNV FGGY:NM_001244714:exon6:c.C593T:p.T198M,FGGY:NM_001350795:exon6:c.C593T:p.T198M,FGGY:NM_001350796:exon7:c.C521T:p.T174M,FGGY:NM_001350797:exon7:c.C455T:p.T152M,FGGY:NM_001350798:exon7:c.C521T:p.T174M,FGGY:NM_001350799:exon7:c.C521T:p.T174M,FGGY:NM_001113411:exon8:c.C857T:p.T286M,FGGY:NM_001350790:exon8:c.C857T:p.T286M,FGGY:NM_001350791:exon8:c.C857T:p.T286M,FGGY:NM_001350794:exon8:c.C857T:p.T286M,FGGY:NM_018291:exon8:c.C857T:p.T286M,FGGY:NM_001350792:exon10:c.C689T:p.T230M,FGGY:NM_001350793:exon10:c.C689T:p.T230M
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 62516683 1 PATJ G C exonic nonsynonymous SNV PATJ:NM_001350145:exon31:c.G4078C:p.V1360L,PATJ:NM_176877:exon31:c.G4078C:p.V1360L RS2498982 Triglycerides:Tardive dyskinesia:LDL cholesterol change with statins:Total cholesterol change with statins:Triglycerides:Total cholesterol:LDL cholesterol:Cervical cancer:Transmission distortion:Paclitaxel-induced cytotoxicity in lymphoblastoid cell lines:Refractive error
1 62579823 1 PATJ G A exonic synonymous SNV PATJ:NM_001350145:exon35:c.G4560A:p.E1520E,PATJ:NM_176877:exon35:c.G4560A:p.E1520E RS1475563 Eye color:Triglycerides:Serum creatinine:LDL cholesterol:Body mass index (BMI)
1 62960101 1 DOCK7 A G exonic synonymous SNV DOCK7:NM_001272000:exon39:c.T4942C:p.L1648L,DOCK7:NM_001272001:exon39:c.T4942C:p.L1648L,DOCK7:NM_033407:exon39:c.T4969C:p.L1657L,DOCK7:NM_001271999:exon40:c.T5035C:p.L1679L,DOCK7:NM_001330614:exon40:c.T5035C:p.L1679L RS10889335 LDL cholesterol:Triglycerides:Total cholesterol:Cystatin C in serum:Serum creatinine:HDL cholesterol:Triglycerides:LDL cholesterol:Total cholesterol:LDL cholesterol:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Serum Val/Serum-TG:Serum M-VLDL-FC:Serum FAw67:Serum MobCH:Serum MobCH3:Serum M-VLDL-C:Advanced age-related macular degeneration:Serum Gp/Serum-TG:Serum XS-VLDL-TG:Serum VLDL-TG-eFR:Serum MobCH2:Serum Serum-TG
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 64021096 1 EFCAB7 G A exonic nonsynonymous SNV EFCAB7:NM_032437:exon9:c.G1124A:p.R375K RS2273367 HDL cholesterol:Rheumatoid arthritis:Gene expression of PGM1 in blood:Gene expression of ITGB3BP in blood:Variant Creutzfeldt-Jakob disease
1 64114301 1 PGM1 T C exonic nonsynonymous SNV PGM1:NM_001172818:exon8:c.T1312C:p.Y438H,PGM1:NM_001172819:exon8:c.T667C:p.Y223H,PGM1:NM_002633:exon8:c.T1258C:p.Y420H RS11208257 Hip bone mineral density (BMD):Rheumatoid arthritis:HOMA-B:HDL cholesterol:Gene expression of [probe 290678 centered at chr1:63929404] in blood:Gene expression of PGM1 in blood
1 65311262 1 JAK1 G A exonic synonymous SNV JAK1:NM_001321852:exon15:c.C2049T:p.S683S,JAK1:NM_001321856:exon15:c.C2049T:p.S683S,JAK1:NM_001321857:exon15:c.C2046T:p.S682S,JAK1:NM_002227:exon15:c.C2049T:p.S683S,JAK1:NM_001320923:exon16:c.C2049T:p.S683S,JAK1:NM_001321854:exon16:c.C2049T:p.S683S,JAK1:NM_001321855:exon16:c.C2049T:p.S683S,JAK1:NM_001321853:exon17:c.C2049T:p.S683S RS2230587 LDL cholesterol:Childhood acute lymphoblastic leukemia:Cystatin C in serum:Lp-PLA2 activity:Urinary albumin-to-creatinine ratio:Microalbuminuria
1 65614154 2 AK4 T A exonic nonsynonymous SNV AK4:NM_013410:exon1:c.T64A:p.C22S,AK4:NM_001005353:exon2:c.T64A:p.C22S,AK4:NM_203464:exon2:c.T64A:p.C22S
1 65690461 1 AK4 G A exonic synonymous SNV AK4:NM_001330616:exon4:c.G309A:p.P103P,AK4:NM_013410:exon4:c.G465A:p.P155P,AK4:NM_001005353:exon5:c.G465A:p.P155P,AK4:NM_203464:exon5:c.G465A:p.P155P
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 70820008 1 ANKRD13C C T exonic synonymous SNV ANKRD13C:NM_030816:exon1:c.G84A:p.E28E
1 74670172 2 FPGT A G exonic synonymous SNV FPGT:NM_003838:exon4:c.A480G:p.K160K RS12046751 Gene expression of MGC22773 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of TNNI3K [probe 2342220] in peripheral blood mononuclear cells:LDL cholesterol change with statins:Partial epilepsy:Gene expression of FPGT [probe ILMN_16365] in osteoblasts treated with dexamethasone:Gene expression of FPGT [probe ILMN_16365] in osteoblasts treated with PGE2:Serum ratio of (gamma-glutamylmethionine*)/(valerate):Bipolar disorder:Gene expression of FPGT (probeID ILMN_1727878) in cerebellum in Alzheimer's disease cases and controls:Gene expression of FPGT (probeID ILMN_1727878) in temporal cortex in Alzheimer's disease cases and controls:Years of education:Gene expression of TNNI3K in normal prepouch ileum:Tetrology of fallot:Gene expression of LRRIQ3 in normal prepouch ileum
1 75172001 1 CRYZ T A exonic synonymous SNV CRYZ:NM_001134759:exon7:c.A558T:p.G186G,CRYZ:NM_001130043:exon8:c.A867T:p.G289G,CRYZ:NM_001889:exon9:c.A969T:p.G323G,CRYZ:NM_001130042:exon10:c.A969T:p.G323G RS7527057 HDL cholesterol change with statins:Diabetic retinopathy in Type 2 diabetes mellitus:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Aortic valve calcium:Gene expression of CRYZ (probeID ILMN_1672389) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CRYZ (probeID ILMN_1672389) in cerebellum in Alzheimer's disease cases and controls
1 75190452 1 CRYZ C T exonic synonymous SNV CRYZ:NM_001130043:exon2:c.G54A:p.G18G,CRYZ:NM_001889:exon2:c.G54A:p.G18G,CRYZ:NM_001130042:exon3:c.G54A:p.G18G RS1051122 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
1 76257892 2 RABGGTB A T exonic synonymous SNV RABGGTB:NM_004582:exon7:c.A606T:p.A202A
1 78098003 1 ZZZ3 A T exonic nonsynonymous SNV ZZZ3:NM_015534:exon5:c.T1037A:p.M346K
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 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 89426902 2 KYAT3 G A exonic synonymous SNV KYAT3:NM_001008662:exon7:c.C633T:p.S211S,KYAT3:NM_001008661:exon8:c.C735T:p.S245S,KYAT3:NM_001349447:exon8:c.C633T:p.S211S,KYAT3:NM_001349449:exon8:c.C243T:p.S81S,KYAT3:NM_001349448:exon9:c.C735T:p.S245S,KYAT3:NM_001349450:exon9:c.C243T:p.S81S RS3738055 Gene expression of CCBL2 [probe 209472_at] in lymphoblastoid cell lines:Gene expression of KAT3 [probe ILMN_1120] in osteoblasts:Lung function, ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):LDL cholesterol:Cystatin C in serum:Rheumatoid arthritis:Gene expression of KAT3 in Temporal cortex:Gene expression of KAT3 in Cerebellum:Gene expression of KAT3 in Frontal cortex:Gene expression of KAT3 in Caudal pons:Height:Serum ratio of (1-oleoylglycerol (1-monoolein))/(1,7-dimethylurate):Diastolic blood pressure (DBP):Salmonella-induced pyroptosis:Gene expression of CCBL2 (ENSG00000137944) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of CCBL2 (probeID ILMN_1778371) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CCBL2 in normal prepouch ileum:Advanced age-related macular degeneration:Gene expression of CCBL2 (probeID ILMN_1778371) in cerebellum in Alzheimer's disease cases and controls
1 90048248 1 LRRC8B C T exonic synonymous SNV LRRC8B:NM_015350:exon5:c.C39T:p.A13A,LRRC8B:NM_001134476:exon7:c.C39T:p.A13A RS12130207 HDL cholesterol:LDL cholesterol:Serum ratio of (deoxycholate)/(taurodeoxycholate):Prostate cancer:Adiponectin levels
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 91405699 1 ZNF644 G A exonic synonymous SNV ZNF644:NM_201269:exon3:c.C1212T:p.T404T
1 92174260 2 TGFBR3 A G exonic synonymous SNV TGFBR3:NM_001195683:exon14:c.T2244C:p.T748T,TGFBR3:NM_003243:exon14:c.T2247C:p.T749T,TGFBR3:NM_001195684:exon15:c.T2244C:p.T748T RS284878 Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Years of education:Birth weight:Advanced age-related macular degeneration (geographic atrophy)
1 92177938 1 TGFBR3 A G exonic synonymous SNV TGFBR3:NM_001195683:exon13:c.T2025C:p.F675F,TGFBR3:NM_003243:exon13:c.T2028C:p.F676F,TGFBR3:NM_001195684:exon14:c.T2025C:p.F675F RS1805113 LDL cholesterol:Barnes Akathisia Rating Scale:Abnormal Involuntary Movement Scale:Partial epilepsy:Triglycerides:Neuroblastoma (brain cancer):Gene expression of TGFBR3 in blood:Serum ratio of (gamma-glutamylglutamate)/(mannose):Parkinson's disease
1 92185657 1 TGFBR3 C T exonic synonymous SNV TGFBR3:NM_001195683:exon9:c.G1203A:p.P401P,TGFBR3:NM_003243:exon9:c.G1206A:p.P402P,TGFBR3:NM_001195684:exon10:c.G1203A:p.P401P
1 92647532 2 KIAA1107 C A exonic nonsynonymous SNV KIAA1107:NM_015237:exon6:c.C2753A:p.T918N
1 92946479 2 GFI1 G A exonic synonymous SNV GFI1:NM_001127215:exon4:c.C465T:p.C155C,GFI1:NM_001127216:exon4:c.C465T:p.C155C,GFI1:NM_005263:exon4:c.C465T:p.C155C
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 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 93620393 1 TMED5 G A exonic nonsynonymous SNV TMED5:NM_016040:exon4:c.C524T:p.T175I RS1060622 Gene expression of probe 1558237_x_at in lymphoblastoid cell lines:Gene expression of LOC100131564 [probe 227074_at] in lymphoblastoid cell lines:HDL cholesterol:LDL cholesterol:Schizophrenia:Rheumatoid arthritis:Premature ovarian failure:HDL cholesterol:Rheumatoid arthritis:Methylation levels at chr1:93583364-93583414 [hg18 coord, probe cg02421543] in Temporal cortex:LDL cholesterol:HDL cholesterol:Total cholesterol:Asthma:Waist hip ratio:Gene expression of DR1 in blood:Gene expression of TMED5 in blood:Serum ratio of (deoxycholate)/(ursodeoxycholate):Diastolic blood pressure (DBP):Type 2 diabetes:Years of education
1 93672723 1 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 94341267 2 DNTTIP2 A G exonic synonymous SNV DNTTIP2:NM_014597:exon3:c.T1740C:p.F580F
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 94343233 2 DNTTIP2 T C exonic synonymous SNV DNTTIP2:NM_014597:exon2:c.A258G:p.E86E RS3789457 Salmonella-induced pyroptosis
1 94639447 2 ARHGAP29 C T exonic nonsynonymous SNV ARHGAP29:NM_001328665:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328667:exon22:c.G3572A:p.G1191D,ARHGAP29:NM_001328664:exon23:c.G3764A:p.G1255D,ARHGAP29:NM_001328666:exon23:c.G3737A:p.G1246D,ARHGAP29:NM_004815:exon23:c.G3764A:p.G1255D
1 95001600 2 F3 A C exonic synonymous SNV F3:NM_001178096:exon3:c.T333G:p.P111P,F3:NM_001993:exon3:c.T333G:p.P111P
1 95330372 1 SLC44A3 G A exonic nonsynonymous SNV SLC44A3:NM_001258342:exon10:c.G1204A:p.V402I,SLC44A3:NM_001258343:exon10:c.G1108A:p.V370I,SLC44A3:NM_001301079:exon10:c.G1072A:p.V358I,SLC44A3:NM_001350223:exon10:c.G1021A:p.V341I,SLC44A3:NM_152369:exon10:c.G1168A:p.V390I,SLC44A3:NM_001114106:exon11:c.G1312A:p.V438I,SLC44A3:NM_001258340:exon11:c.G1312A:p.V438I,SLC44A3:NM_001258341:exon11:c.G1216A:p.V406I RS859098 LDL cholesterol:HDL cholesterol:Schizophrenia:Premature ovarian failure:Gene expression of SLC44A3 in Cerebellum:Height:Microalbuminuria:Serum ratio of (biliverdin)/(HWESASXX*):Taste change in healthy volunteers in response to topiramate treatment (Normal taste):Gene expression of SLC44A3 (probeID ILMN_1658498) in cerebellum in Alzheimer's disease cases:Gene expression of SLC44A3 (probeID ILMN_1658498) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of SLC44A3 (probeID ILMN_1658498) in cerebellum in non-Alzheimer's disease samples:Gene expression of SLC44A3 (probeID ILMN_1658498) in cerebellum in Alzheimer's disease cases and controls
1 95709821 2 RWDD3 T C exonic nonsynonymous SNV RWDD3:NM_001128142:exon2:c.T140C:p.V47A,RWDD3:NM_001199682:exon2:c.T140C:p.V47A,RWDD3:NM_015485:exon2:c.T140C:p.V47A,RWDD3:NM_001278247:exon3:c.T95C:p.V32A,RWDD3:NM_001278248:exon3:c.T95C:p.V32A
1 95709939 2 RWDD3 T G exonic nonsynonymous SNV RWDD3:NM_001128142:exon2:c.T258G:p.N86K,RWDD3:NM_001199682:exon2:c.T258G:p.N86K,RWDD3:NM_015485:exon2:c.T258G:p.N86K,RWDD3:NM_001278247:exon3:c.T213G:p.N71K,RWDD3:NM_001278248:exon3:c.T213G:p.N71K RS2296308 Rheumatoid arthritis:Gene expression of TTC25 in peripheral blood monocytes:Partial epilepsy:Neuroblastoma (brain cancer):Serum ratio of (ADpSGEGDFXAEGGGVR*)/(cysteine-glutathione disulfide):Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Hypertension (early onset hypertension):Plasma palmitic acid:Tetrology of fallot:Plasma stearic acid
1 98348885 2 DPYD G A exonic nonsynonymous SNV DPYD:NM_000110:exon2:c.C85T:p.R29C,DPYD:NM_001160301:exon2:c.C85T:p.R29C RS1801265 Irritible bowel syndrome:Breast cancer:Body mass index (BMI):Microalbuminuria:Urinary albumin-to-creatinine ratio:Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease:College completion:Amyotrophic lateral sclerosis (ALS) age of onset:Years of education:Birth weight
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 99164434 1 SNX7 G A exonic synonymous SNV SNX7:NM_152238:exon5:c.G846A:p.E282E,SNX7:NM_015976:exon6:c.G1011A:p.E337E RS6577322 Rheumatoid arthritis:HOMA-IR:Childhood acute lymphoblastic leukemia:Gene expression of ABLIM3 in peripheral blood monocytes:Adiponectin levels:Birth weight
1 99225627 1 SNX7 G A exonic synonymous SNV SNX7:NM_152238:exon8:c.G1131A:p.E377E,SNX7:NM_015976:exon9:c.G1296A:p.E432E
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 100336361 1 AGL C T exonic synonymous SNV AGL:NM_000028:exon7:c.C894T:p.L298L,AGL:NM_000642:exon7:c.C894T:p.L298L,AGL:NM_000643:exon7:c.C894T:p.L298L,AGL:NM_000644:exon7:c.C894T:p.L298L,AGL:NM_000646:exon7:c.C846T:p.L282L RS2230306 LDL cholesterol:Total cholesterol:Urinary albumin-to-creatinine ratio:Microalbuminuria
1 100575933 2 SASS6 G A exonic nonsynonymous SNV SASS6:NM_001304829:exon7:c.C275T:p.A92V,SASS6:NM_194292:exon8:c.C776T:p.A259V RS13375867 Fasting blood glucose:Urinary albumin-to-creatinine ratio:Serum concentration of phenylacetylglutamine:Gene expression of HIAT1 in normal prepouch ileum:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
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 104068839 1 RNPC3 C A exonic stopgain RNPC3:NM_017619:exon1:c.C147A:p.Y49X
1 109338861 2 STXBP3 G C exonic synonymous SNV STXBP3:NM_007269:exon14:c.G1116C:p.L372L
1 109486196 1 CLCC1 A G exonic synonymous SNV CLCC1:NM_001048210:exon6:c.T603C:p.T201T,CLCC1:NM_015127:exon6:c.T453C:p.T151T RS338466 Longstanding arthritis:Premature ovarian failure:Gene expression of GPSM2 in CD4+ lymphocytes:Urinary albumin-to-creatinine ratio:Gene expression of KIAA1324 in blood:Bipolar disorder:Major depressive disorder:Amyotrophic lateral sclerosis (ALS):Maternal transmission distortion:Paclitaxel-induced cytotoxicity in lymphoblastoid cell lines:Major depressive disorder and bipolar disorder combined analysis:Transmission distortion:Gene expression of AKNAD1 (ENSG00000162641) in dendritic cells treated with Mycobacterium tuberculosis:Paternal transmission distortion
1 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 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 109897103 1 SORT1 A G exonic synonymous SNV SORT1:NM_001205228:exon5:c.T186C:p.F62F,SORT1:NM_002959:exon5:c.T594C:p.F198F RS11142 LDL cholesterol:HOMA-B:Cystatin C in serum:Serum creatinine:Chronic kidney disease:Methylation levels at chr1:109742583-109742633 [hg18 coord, probe cg02175308] in Cerebellum:Total cholesterol:LDL cholesterol:Coronary artery disease (CAD):College completion
1 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 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 110295772 2 EPS8L3 T C exonic synonymous SNV EPS8L3:NM_001319952:exon12:c.A1068G:p.S356S,EPS8L3:NM_024526:exon13:c.A1167G:p.S389S,EPS8L3:NM_133181:exon13:c.A1167G:p.S389S,EPS8L3:NM_139053:exon13:c.A1170G:p.S390S RS1887547 Gene expression of GSTM3 [probe 202554_s_at] in lymphoblastoid cell lines:Gene expression of GSTM5 [probe GI_23065562] in prefrontal cortex:Gene expression of GSTM5 [probe 205752_s_at] in prefrontal cortex:Methylation levels at chr1:110084696-110084746 [hg18 coord, probe cg25027501] in Temporal cortex:Gene expression of GSTM3 in Cerebellum:Gene expression of GSTM4 in peripheral blood monocytes:Gene expression of GSTM3 in peripheral blood monocytes:LDL cholesterol:Total cholesterol:PROP taste detection threshold:Gene expression of GSTM5 (probeID ILMN_1750790) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GSTM3 (probeID ILMN_1736184) in cerebellum in Alzheimer's disease cases and controls:Gene expression of GSTM3 in normal prepouch ileum:Gene expression change of GSTM1 (ENSG00000134184) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of GSTM5 (probeID ILMN_1750790) in cerebellum in Alzheimer's disease cases and controls:Gene expression of GSTM3 (probeID ILMN_1736184) in temporal cortex in Alzheimer's disease cases and controls
1 110299691 1 EPS8L3 G A exonic nonsynonymous SNV EPS8L3:NM_001319952:exon11:c.C967T:p.P323S,EPS8L3:NM_024526:exon12:c.C1066T:p.P356S,EPS8L3:NM_133181:exon12:c.C1066T:p.P356S,EPS8L3:NM_139053:exon12:c.C1069T:p.P357S RS11102001 Barnes Akathisia Rating Scale:Fasting blood glucose:LDL cholesterol:Total cholesterol:Gene expression of GSTM3 in blood:Gene expression of GSTM3 in normal prepouch ileum:Salmonella-induced pyroptosis
1 110882444 2 RBM15 A G exonic synonymous SNV RBM15:NM_001201545:exon1:c.A417G:p.E139E,RBM15:NM_022768:exon1:c.A417G:p.E139E
1 110883569 1 RBM15 A T exonic synonymous SNV RBM15:NM_001201545:exon1:c.A1542T:p.P514P,RBM15:NM_022768:exon1:c.A1542T:p.P514P RS3738752 HOMA-B:Diabetic retinopathy in Type 2 diabetes mellitus
1 111998734 1 ATP5F1 A G exonic nonsynonymous SNV ATP5F1:NM_001688:exon4:c.A250G:p.I84V
1 112269872 2 FAM212B G A exonic synonymous SNV FAM212B:NM_019099:exon2:c.C612T:p.F204F,FAM212B:NM_198926:exon2:c.C567T:p.F189F
1 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 113197203 1 CAPZA1 A G exonic synonymous SNV CAPZA1:NM_006135:exon5:c.A336G:p.E112E
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 114442837 1 AP4B1 T C exonic nonsynonymous SNV AP4B1:NM_001308312:exon2:c.A299G:p.H100R,AP4B1:NM_001253852:exon5:c.A803G:p.H268R,AP4B1:NM_001253853:exon6:c.A506G:p.H169R,AP4B1:NM_006594:exon6:c.A803G:p.H268R
1 114443899 1 AP4B1 G A exonic synonymous SNV AP4B1:NM_001253852:exon4:c.C576T:p.G192G,AP4B1:NM_001253853:exon5:c.C279T:p.G93G,AP4B1:NM_006594:exon5:c.C576T:p.G192G RS17464525 Gene expression of DCLRE1B in CHB-JPT lymphoblastoid cell lines:Amyotrophic lateral sclerosis (ALS):Serum creatinine:Gene expression of DCLRE1B in CD4+ lymphocytes:Microalbuminuria:Gene expression of HIPK1///DCLRE1B in blood:Gene expression of HIPK1///AP4B1 in blood:Gene expression of AP4B1 (ENSG00000134262) in dendritic cells treated with Mycobacterium tuberculosis:Salmonella-induced pyroptosis:Gene expression of DCLRE1B (probeID ILMN_1655382) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of AP4B1 (ENSG00000134262) in dendritic cells:Gene expression of DCLRE1B (probeID ILMN_1655382) in cerebellum in Alzheimer's disease cases and controls
1 114449662 1 DCLRE1B T C exonic synonymous SNV DCLRE1B:NM_022836:exon2:c.T234C:p.H78H RS3761936 Rheumatoid arthritis:Total cholesterol change with statins:Triglycerides change with statins:LDL cholesterol change with statins:Rheumatoid arthritis:Adiponectin levels:Gene expression of DCLRE1B in normal prepouch ileum
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 114948281 1 TRIM33 A G exonic nonsynonymous SNV TRIM33:NM_015906:exon15:c.T2519C:p.I840T,TRIM33:NM_033020:exon15:c.T2519C:p.I840T RS6537825 Barnes Akathisia Rating Scale:Height:Waist hip ratio:Years of education
1 115256529 1 NRAS T A exonic nonsynonymous SNV NRAS:NM_002524:exon3:c.A182T:p.Q61L
1 116206423 1 VANGL1 G A exonic nonsynonymous SNV VANGL1:NM_001172411:exon4:c.G340A:p.A114T,VANGL1:NM_001172412:exon4:c.G346A:p.A116T,VANGL1:NM_138959:exon4:c.G346A:p.A116T RS4839469 Abnormal Involuntary Movement Scale:Serum ratio of (3-indoxyl sulfate)/(trigonelline (N'-methylnicotinate)):Serum concentration of 2-hydroxybutyrate (AHB):Resistance to kuru in aged women despite likely exposure:Infant head circumference:Salmonella-induced pyroptosis:Maternal transmission distortion:Gene expression of VANGL1 in normal prepouch ileum:Amyotrophic lateral sclerosis (ALS) age of onset:Transmission distortion
1 117617705 1 TTF2 A G exonic nonsynonymous SNV TTF2:NM_003594:exon5:c.A499G:p.K167E RS998532 Alzheimer's disease:Gene expression of IGSF2 in peripheral blood monocytes:Late onset Alzheimer's disease:Gene expression of [probe 1710678 centered at chr1:117640004] in blood:Type 2 diabetes:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Hypertension (early onset hypertension):Mitral annular calcium:Years of education
1 117618067 1 TTF2 C T exonic synonymous SNV TTF2:NM_003594:exon5:c.C861T:p.N287N
1 118587003 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 130415818 2
1 144618144 2 NBPF8;NBPF9 A G exonic unknown UNKNOWN
1 144881461 2 PDE4DIP A C exonic synonymous SNV PDE4DIP:NM_001350520:exon21:c.T4224G:p.A1408A,PDE4DIP:NM_001198834:exon25:c.T3735G:p.A1245A,PDE4DIP:NM_014644:exon25:c.T3735G:p.A1245A,PDE4DIP:NM_001198832:exon28:c.T3603G:p.A1201A,PDE4DIP:NM_001350521:exon28:c.T4146G:p.A1382A,PDE4DIP:NM_001350522:exon28:c.T3933G:p.A1311A,PDE4DIP:NM_001350523:exon28:c.T3603G:p.A1201A
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 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 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 146714392 1 CHD1L G T exonic synonymous SNV CHD1L:NM_001256338:exon1:c.G39T:p.A13A,CHD1L:NM_001348454:exon1:c.G39T:p.A13A,CHD1L:NM_004284:exon1:c.G39T:p.A13A
1 146714427 1 CHD1L G C exonic nonsynonymous SNV CHD1L:NM_001256338:exon1:c.G74C:p.R25P,CHD1L:NM_001348454:exon1:c.G74C:p.R25P,CHD1L:NM_004284:exon1:c.G74C:p.R25P
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 146759320 1 CHD1L C G exonic nonsynonymous SNV CHD1L:NM_001256338:exon13:c.C1616G:p.S539C,CHD1L:NM_001256337:exon14:c.C1385G:p.S462C,CHD1L:NM_001348454:exon14:c.C1772G:p.S591C,CHD1L:NM_001348456:exon14:c.C1385G:p.S462C,CHD1L:NM_001348463:exon15:c.C1385G:p.S462C,CHD1L:NM_001348466:exon15:c.C1385G:p.S462C,CHD1L:NM_001348459:exon17:c.C1385G:p.S462C,CHD1L:NM_001348461:exon17:c.C1385G:p.S462C,CHD1L:NM_001348464:exon17:c.C1385G:p.S462C,CHD1L:NM_001256336:exon18:c.C1928G:p.S643C,CHD1L:NM_001348453:exon18:c.C1889G:p.S630C,CHD1L:NM_001348455:exon18:c.C1739G:p.S580C,CHD1L:NM_001348457:exon18:c.C1385G:p.S462C,CHD1L:NM_001348458:exon18:c.C1385G:p.S462C,CHD1L:NM_001348460:exon18:c.C1385G:p.S462C,CHD1L:NM_001348465:exon18:c.C1385G:p.S462C,CHD1L:NM_001348452:exon19:c.C2012G:p.S671C,CHD1L:NM_001348462:exon19:c.C1385G:p.S462C,CHD1L:NM_004284:exon19:c.C2228G:p.S743C,CHD1L:NM_024568:exon19:c.C1889G:p.S630C,CHD1L:NM_001348451:exon20:c.C2012G:p.S671C RS2275249 HDL cholesterol:Total cholesterol:Gene expression of SRI in peripheral blood monocytes:Height:Serum ratio of (gamma-glutamylglutamate)/(malate)
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 147091972 1 BCL9 C T exonic nonsynonymous SNV BCL9:NM_004326:exon8:c.C2011T:p.P671S RS3820129 Gene expression of ACP6 [probe 218795_at] in lymphoblastoid cell lines:Gene expression of ACP6 in brain cortex:Eye color:Gene expression of ACP6 in Caudal pons:Gene expression of FGF23 in peripheral blood monocytes:Gene expression of ACP6 in CD4+ lymphocytes:Gene expression of ACP6 in blood:Serum concentration of hexanoylcarnitine:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):PROP taste detection threshold:Sporadic Creutzfeldt-Jakob disease:Adiponectin levels:Gene expression of ACP6 (probeID ILMN_2234343) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ACP6 in normal prepouch ileum:Salmonella-induced pyroptosis:Infant head circumference:Gene expression of ACP6 (probeID ILMN_2234343) in cerebellum in Alzheimer's disease cases and controls
1 147119273 1 ACP6 G A exonic synonymous SNV ACP6:NM_016361:exon10:c.C1239T:p.H413H RS1344 Gene expression of ACP6 [probe 218795_at] in lymphoblastoid cell lines:Gene expression of probe 242270_at in lymphoblastoid cell lines:Gene expression of ACP6 in brain cortex:Gene expression of ACP6 in liver:Eye color:Gene expression of ACP6 in blood cells in Celiac disease:Biploar disorder (bipolar schizoaffective disorder):Gene expression of ACP6 [probe ILMN_24835] in osteoblasts:Gene expression of ACP6 in Caudal pons:Gene expression of ACP6 in peripheral blood monocytes:Gene expression of ACP6 in CD4+ lymphocytes:Height:Waist hip ratio:Gene expression of ACP6 [probe ILMN_24835] in untreated osteoblasts:Gene expression of ACP6 [probe ILMN_24835] in osteoblasts treated with PGE2:Gene expression of ACP6 [probe ILMN_24835] in osteoblasts treated with BMP2:Gene expression of ACP6 [probe ILMN_24835] in osteoblasts treated with dexamethasone:Gene expression of ACP6 in blood:Gene expression of ACP6 (probeID ILMN_2234343) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ACP6 in normal prepouch ileum:Gene expression of ACP6 (probeID ILMN_2234343) in cerebellum in Alzheimer's disease cases and controls:Aortic valve calcium
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 149290801 2 FAM231D;LOC100996741;LOC388692 C G exonic nonsynonymous SNV LOC388692:NM_001013644:exon1:c.C273G:p.D91E,FAM231D:NM_001348147:exon1:c.C273G:p.D91E,LOC100996741:NM_001348152:exon1:c.C273G:p.D91E
1 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 150531008 2 ADAMTSL4 T C exonic synonymous SNV ADAMTSL4:NM_019032:exon15:c.T2442C:p.N814N,ADAMTSL4:NM_025008:exon15:c.T2442C:p.N814N,ADAMTSL4:NM_001288607:exon16:c.T2325C:p.N775N,ADAMTSL4:NM_001288608:exon16:c.T2511C:p.N837N RS10888382 HDL cholesterol:Total cholesterol:Serum creatinine:Chronic kidney disease:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Aortic valve calcium:Obesity with early age of onset (age >2)
1 150531050 2 ADAMTSL4 G A exonic synonymous SNV ADAMTSL4:NM_019032:exon15:c.G2484A:p.P828P,ADAMTSL4:NM_025008:exon15:c.G2484A:p.P828P,ADAMTSL4:NM_001288607:exon16:c.G2367A:p.P789P,ADAMTSL4:NM_001288608:exon16:c.G2553A:p.P851P
1 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 150999737 1 PRUNE1 A G exonic synonymous SNV PRUNE1:NM_001303243:exon4:c.A105G:p.K35K,PRUNE1:NM_001303229:exon5:c.A162G:p.K54K,PRUNE1:NM_001303242:exon6:c.A708G:p.K236K,PRUNE1:NM_021222:exon6:c.A708G:p.K236K RS11204762 2 hour glucose:Serum concentration of hippurate:Birth weight:Gene expression of LASS2 (ENSG00000143418) in dendritic cells
1 151006539 1 PRUNE1 C A exonic synonymous SNV PRUNE1:NM_001303243:exon6:c.C588A:p.G196G,PRUNE1:NM_001303229:exon7:c.C645A:p.G215G,PRUNE1:NM_001303242:exon7:c.C1032A:p.G344G,PRUNE1:NM_021222:exon8:c.C1191A:p.G397G RS3738476 HDL cholesterol:Autism with low IQ:Height:Waist hip ratio:Years of education:College completion
1 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 151288172 2 PI4KB G A exonic synonymous SNV PI4KB:NM_001198774:exon2:c.C786T:p.D262D,PI4KB:NM_002651:exon3:c.C822T:p.D274D,PI4KB:NM_001198773:exon4:c.C786T:p.D262D,PI4KB:NM_001330721:exon4:c.C786T:p.D262D RS1056847 Irritible bowel syndrome:Height:Mitral annular calcium:Diabetic retinopathy in Type 2 diabetes mellitus
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 151372091 1 PSMB4 G A exonic nonsynonymous SNV PSMB4:NM_002796:exon1:c.G28A:p.G10R
1 151372138 1 PSMB4 G A exonic synonymous SNV PSMB4:NM_002796:exon1:c.G75A:p.P25P RS7172 Biploar disorder (bipolar schizoaffective disorder):Total cholesterol:LDL cholesterol:Triglycerides change with statins:Myocardial infarction (MI):Serum ratio of (phenylacetate)/(pyroglutamylglycine):Bipolar disorder:Transmission distortion
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 151740666 2 OAZ3 T C exonic unknown UNKNOWN
1 151867560 2 THEM4 G A exonic synonymous SNV THEM4:NM_053055:exon2:c.C210T:p.D70D
1 151881885 2 THEM4 A C exonic nonsynonymous SNV THEM4:NM_053055:exon1:c.T50G:p.L17R
1 153598904 1 S100A13 G C exonic synonymous SNV S100A13:NM_001024211:exon2:c.C45G:p.T15T,S100A13:NM_001024212:exon2:c.C45G:p.T15T,S100A13:NM_001024213:exon2:c.C45G:p.T15T,S100A13:NM_005979:exon3:c.C45G:p.T15T,S100A13:NM_001024210:exon4:c.C45G:p.T15T
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 154918890 1 PBXIP1 G A exonic synonymous SNV PBXIP1:NM_001317735:exon7:c.C795T:p.S265S,PBXIP1:NM_001317734:exon9:c.C1173T:p.S391S,PBXIP1:NM_020524:exon10:c.C1260T:p.S420S
1 154919080 1 PBXIP1 C T exonic nonsynonymous SNV PBXIP1:NM_001317735:exon7:c.G605A:p.G202D,PBXIP1:NM_001317734:exon9:c.G983A:p.G328D,PBXIP1:NM_020524:exon10:c.G1070A:p.G357D RS2061690 Serum creatinine:Body mass index (BMI):Gene expression of DPM3 in liver:Gene expression of PBXIP1 [probeset 207838_x_at] in sputum
1 154987526 2 ZBTB7B C T exonic synonymous SNV ZBTB7B:NM_001256455:exon2:c.C390T:p.I130I,ZBTB7B:NM_001252406:exon4:c.C492T:p.I164I RS11264295 Methylation levels at chr1:153273828-153273878 [hg18 coord, probe cg21596858] in Temporal cortex:Comorbid depressive syndrome and alcohol dependence
1 154988957 2 ZBTB7B A G exonic synonymous SNV ZBTB7B:NM_001256455:exon3:c.A1416G:p.P472P,ZBTB7B:NM_001252406:exon5:c.A1518G:p.P506P
1 155026942 2 ADAM15 A C exonic nonsynonymous SNV ADAM15:NM_001261464:exon6:c.A602C:p.K201T,ADAM15:NM_001261465:exon6:c.A572C:p.K191T,ADAM15:NM_001261466:exon6:c.A524C:p.K175T,ADAM15:NM_003815:exon6:c.A572C:p.K191T,ADAM15:NM_207191:exon6:c.A572C:p.K191T,ADAM15:NM_207194:exon6:c.A572C:p.K191T,ADAM15:NM_207195:exon6:c.A572C:p.K191T,ADAM15:NM_207196:exon6:c.A572C:p.K191T,ADAM15:NM_207197:exon6:c.A572C:p.K191T RS6427128 Irritible bowel syndrome:Arthritis including non-Rheumatoid:Schizophrenia:Differential exon level expression of ADAM15 [probe 2360588] in peripheral blood mononuclear cells:Differential exon level expression of ADAM15 [probe 2360588] in brain cortex:Alzheimer's disease:Serum creatinine:Triglycerides:HDL cholesterol:Gene expression of ADAM15 in blood:Serum ratio of (gamma-glutamylmethionine*)/(succinylcarnitine):Comorbid depressive syndrome and alcohol dependence:Gene expression of CKS1B (ENSG00000173207) in dendritic cells treated with Mycobacterium tuberculosis:Advanced age-related macular degeneration:Gene expression change of PBXIP1 (ENSG00000163346) in dendritic cells after treatment with Mycobacterium tuberculosis:Tetrology of fallot:Gene expression of PBXIP1 (ENSG00000163346) in dendritic cells:Gene expression of EFNA1 (ENSG00000169242) in dendritic cells treated with Mycobacterium tuberculosis:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
1 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 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 155912486 2 RXFP4 T C exonic nonsynonymous SNV RXFP4:NM_181885:exon1:c.T986C:p.L329S RS2152051 Abnormal Involuntary Movement Scale
1 156011444 2 UBQLN4 T C exonic nonsynonymous SNV UBQLN4:NM_001304342:exon10:c.A1425G:p.I475M,UBQLN4:NM_020131:exon10:c.A1485G:p.I495M RS2297792 Gene expression of RIT1 [probe 239843_at] in lymphoblastoid cell lines:Irritible bowel syndrome:Differential exon level expression of UBQLN4 [probe 2437900] in brain cortex:Differential exon level expression of UBQLN4 [probe 2437900] in peripheral blood mononuclear cells:Gene expression of UBQLN4 [probe 2437893] in brain cortex:Total cholesterol change with statins:Body mass index (BMI):Age at death with kuru exposure:Advanced age-related macular degeneration:Gene expression of UBQLN4 (ENSG00000160803) in dendritic cells:Birth weight
1 156107534 1 LMNA C T exonic synonymous SNV LMNA:NM_001257374:exon10:c.C1362T:p.H454H,LMNA:NM_001282626:exon10:c.C1698T:p.H566H,LMNA:NM_005572:exon10:c.C1698T:p.H566H,LMNA:NM_170707:exon10:c.C1698T:p.H566H,LMNA:NM_001282624:exon11:c.C1455T:p.H485H,LMNA:NM_001282625:exon13:c.C1698T:p.H566H RS4641 LDL cholesterol:Total cholesterol:Gene expression of PMF1 (ENSG00000160783) in dendritic cells treated with Mycobacterium tuberculosis
1 156263940 1 GLMP T C exonic nonsynonymous SNV GLMP:NM_001256605:exon3:c.A409G:p.I137V,GLMP:NM_001256604:exon4:c.A667G:p.I223V,GLMP:NM_001256608:exon4:c.A667G:p.I223V,GLMP:NM_001256609:exon4:c.A424G:p.I142V,GLMP:NM_144580:exon4:c.A667G:p.I223V RS10908495 Gene expression of NP_653181.1 in blood cells in Celiac disease:Gene expression of C1orf85 [probe 2438093] in peripheral blood mononuclear cells:HOMA-IR:Fasting insulin:Cystatin C in serum:Gene expression of C1orf85 in CD4+ lymphocytes:Gene expression of CCT3 in blood:Gene expression of PMF1///PAQR6 in blood:Gene expression of C1orf85///TMEM79 in blood:Gene expression of SEMA4A in blood:Gene expression of SMG5 in blood
1 156264000 1 GLMP G A exonic nonsynonymous SNV GLMP:NM_001256605:exon3:c.C349T:p.P117S,GLMP:NM_001256604:exon4:c.C607T:p.P203S,GLMP:NM_001256608:exon4:c.C607T:p.P203S,GLMP:NM_001256609:exon4:c.C364T:p.P122S,GLMP:NM_144580:exon4:c.C607T:p.P203S RS10908496 Gene expression of NP_653181.1 in blood cells in Celiac disease:Gene expression of C1orf85 [probe 2438093] in peripheral blood mononuclear cells:HOMA-IR:Fasting insulin:Cystatin C in serum:Gene expression of C1orf85 in CD4+ lymphocytes:Gene expression of CCT3 in blood:Gene expression of C1orf85///TMEM79 in blood:Gene expression of PMF1///PAQR6 in blood:Gene expression of SEMA4A in blood:Gene expression of SMG5 in blood
1 156351699 1 RHBG G A exonic nonsynonymous SNV RHBG:NM_020407:exon6:c.G943A:p.G315R,RHBG:NM_001256395:exon7:c.G736A:p.G246R,RHBG:NM_001256396:exon7:c.G853A:p.G285R RS3748569 Fasting blood glucose:Triglycerides change with statins:Allergic rhinitis:Atopy:Gene expression of C1orf85///TMEM79 in blood:Gene expression of PMF1///PAQR6 in blood:Serum ratio of (hexanoylcarnitine)/(succinylcarnitine):Years of education
1 156446903 1 MEF2D T C exonic synonymous SNV MEF2D:NM_001271629:exon7:c.A756G:p.P252P,MEF2D:NM_005920:exon7:c.A756G:p.P252P RS2274317 HOMA-B:Fasting insulin:Triglycerides change with statins:Height:Body mass index (BMI):Systolic blood pressure (SBP):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
1 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 156556321 2 TTC24 G A exonic synonymous SNV TTC24:NM_001105669:exon10:c.G1728A:p.S576S RS10796961 Serum creatinine:LDL cholesterol:Monocyte count: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 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 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 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 160303416 2 COPA G A exonic synonymous SNV COPA:NM_001098398:exon5:c.C363T:p.N121N,COPA:NM_004371:exon5:c.C363T:p.N121N RS1802778 LDL cholesterol change with statins:Height:Neuroblastoma (brain cancer):Gene expression of PEX19 in blood:Gene expression of COPA in blood:Gene expression of NCSTN in blood:Gene expression of PEA15///WDR42A in blood:Systolic blood pressure (SBP):Gene expression of NCSTN [probeset 208759_at] in sputum:Gene expression of COPA [probeset 208684_at] in sputum:Variant Creutzfeldt-Jakob disease
1 160318835 1 NCSTN G A exonic synonymous SNV NCSTN:NM_001290186:exon3:c.G237A:p.E79E,NCSTN:NM_001349729:exon3:c.G237A:p.E79E,NCSTN:NM_015331:exon3:c.G237A:p.E79E,NCSTN:NM_001290184:exon4:c.G177A:p.E59E
1 161168004 2 ADAMTS4 C T exonic synonymous SNV ADAMTS4:NM_001320336:exon1:c.G414A:p.S138S,ADAMTS4:NM_005099:exon1:c.G414A:p.S138S
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 161928327 2 ATF6 A G exonic synonymous SNV ATF6:NM_007348:exon16:c.A1896G:p.S632S RS9482 Gene expression of ATF6 [probe 217550_at] in lymphoblastoid cell lines:Spine bone mineral density (BMD):HDL cholesterol:Total cholesterol:Neuroblastoma (brain cancer):Gene expression of ATF6 in blood:Comorbid depressive syndrome and alcohol dependence
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 168013850 1 DCAF6 T C exonic nonsynonymous SNV DCAF6:NM_001349780:exon12:c.T1199C:p.V400A,DCAF6:NM_001017977:exon13:c.T1640C:p.V547A,DCAF6:NM_001349777:exon13:c.T1259C:p.V420A,DCAF6:NM_001349778:exon13:c.T1199C:p.V400A,DCAF6:NM_001349779:exon13:c.T1199C:p.V400A,DCAF6:NM_001198957:exon14:c.T1778C:p.V593A,DCAF6:NM_001349774:exon14:c.T1259C:p.V420A,DCAF6:NM_001349775:exon14:c.T1259C:p.V420A,DCAF6:NM_001349776:exon14:c.T1259C:p.V420A,DCAF6:NM_018442:exon14:c.T1700C:p.V567A,DCAF6:NM_001198956:exon15:c.T1871C:p.V624A,DCAF6:NM_001349773:exon15:c.T1871C:p.V624A RS11558511 Rheumatoid arthritis:Gene expression of POU2AF1 in peripheral blood monocytes:Gene expression of LYZL1 in peripheral blood monocytes:College completion:Advanced age-related macular degeneration (geographic atrophy)
1 168014204 1 DCAF6 T A exonic nonsynonymous SNV DCAF6:NM_001349780:exon13:c.T1325A:p.L442H,DCAF6:NM_001017977:exon14:c.T1766A:p.L589H,DCAF6:NM_001349777:exon14:c.T1385A:p.L462H,DCAF6:NM_001349778:exon14:c.T1325A:p.L442H,DCAF6:NM_001349779:exon14:c.T1325A:p.L442H,DCAF6:NM_001198957:exon15:c.T1904A:p.L635H,DCAF6:NM_001349774:exon15:c.T1385A:p.L462H,DCAF6:NM_001349775:exon15:c.T1385A:p.L462H,DCAF6:NM_001349776:exon15:c.T1385A:p.L462H,DCAF6:NM_018442:exon15:c.T1826A:p.L609H,DCAF6:NM_001198956:exon16:c.T1997A:p.L666H,DCAF6:NM_001349773:exon16:c.T1997A:p.L666H
1 169498975 1 F5 T C exonic nonsynonymous SNV F5:NM_000130:exon16:c.A5290G:p.M1764V RS6030 Total cholesterol:Waist hip ratio:Gene expression of F5 in blood:Age at death with kuru exposure:Uric acid in plasma:Gene expression of SLC19A2 in normal prepouch ileum
1 169510233 1 F5 G A exonic synonymous SNV F5:NM_000130:exon13:c.C4095T:p.T1365T
1 169511555 1 F5 T C exonic nonsynonymous SNV F5:NM_000130:exon13:c.A2773G:p.K925E RS6032 Waist hip ratio:Systolic blood pressure (SBP)
1 169511734 1 F5 T C exonic nonsynonymous SNV F5:NM_000130:exon13:c.A2594G:p.H865R RS4525 Gene expression of BLZF1 in blood cells in Celiac disease:Schizophrenia:Venous thromboembolism (VTE):Waist hip ratio:Gene expression of F5 in blood:Age at death with kuru exposure:Uric acid in plasma
1 169511755 1 F5 T C exonic nonsynonymous SNV F5:NM_000130:exon13:c.A2573G:p.K858R RS4524 Gene expression of BLZF1 in blood cells in Celiac disease:Schizophrenia:Venous thromboembolism (VTE):Waist hip ratio:Gene expression of F5 in blood:Serum ratio of (biliverdin)/(taurodeoxycholate):Age at death with kuru exposure:Uric acid in plasma
1 169512027 1 F5 T C exonic synonymous SNV F5:NM_000130:exon13:c.A2301G:p.S767S
1 169512093 1 F5 A G exonic synonymous SNV F5:NM_000130:exon13:c.T2235C:p.N745N
1 169512120 1 F5 G A exonic synonymous SNV F5:NM_000130:exon13:c.C2208T:p.I736I
1 169519049 2 F5 T C exonic nonsynonymous SNV F5:NM_000130:exon10:c.A1601G:p.Q534R RS6025 Barnes Akathisia Rating Scale:Plasma fibrin D-dimer levels:Venous thrombosis:Venous thromboembolism:Activated protein C resistance:Venous thrombosis
1 169529826 1 F5 C A exonic synonymous SNV F5:NM_000130:exon4:c.G552T:p.S184S RS6022 HOMA-IR:Fasting blood glucose:Fasting insulin:Serum ratio of (1-linoleoylglycerophosphoethanolamine*)/(hypoxanthine)
1 169529973 1 F5 C T exonic synonymous SNV F5:NM_000130:exon4:c.G405A:p.A135A RS6029 Irritible bowel syndrome:HOMA-IR:Fasting blood glucose:Fasting insulin
1 169823660 1 SCYL3 C T exonic synonymous SNV SCYL3:NM_020423:exon12:c.G1758A:p.V586V,SCYL3:NM_181093:exon13:c.G1920A:p.V640V RS1062976 Differential exon level expression of C1orf112 [probe 2366603] in brain cortex:Sporadic amyotrophic lateral sclerosis (ALS) survival:Abnormal Involuntary Movement Scale:Gene expression of SELL in peripheral blood monocytes:Autism:Gene expression of SELL in blood:Serum ratio of (10-heptadecenoate (17:1n7))/(oleate (18:1n9)):Years of education:Tetrology of fallot:Transmission distortion:Paternal transmission distortion
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 171509327 1 PRRC2C G A exonic nonsynonymous SNV PRRC2C:NM_015172:exon16:c.G2716A:p.A906T RS760644 Simpson-Angus Scale
1 171511039 1 PRRC2C C G exonic synonymous SNV PRRC2C:NM_015172:exon16:c.C4428G:p.S1476S RS1687064 Triglycerides:Biploar disorder (bipolar schizoaffective disorder):Triglycerides change with statins:Serum creatinine:Body mass index (BMI)
1 171514731 1 PRRC2C C G exonic nonsynonymous SNV PRRC2C:NM_015172:exon17:c.C4871G:p.S1624C RS235468 Triglycerides change with statins:Serum creatinine:Body mass index (BMI)
1 171526570 1 PRRC2C G A exonic synonymous SNV PRRC2C:NM_015172:exon19:c.G5313A:p.P1771P RS1687057 Simpson-Angus Scale:Triglycerides change with statins:Serum creatinine:Body mass index (BMI):College completion:Years of education
1 171526910 1 PRRC2C G A exonic nonsynonymous SNV PRRC2C:NM_015172:exon19:c.G5653A:p.A1885T RS12025905 Rheumatoid arthritis:Methylation levels at chr22:40286807-40286857 [hg18 coord, probe cg18174542] in Caudal pons:Methylation levels at chr10:71562721-71562771 [hg18 coord, probe cg26699283] in Caudal pons:Methylation levels at chr1:41022649-41022699 [hg18 coord, probe cg00630164] in Caudal pons:Asthma:Gene expression of KIAA0859 in blood:Gene expression of [probe 2100722 centered at chr1:169939898] in blood:Gene expression of BAT2D1 (ENSG00000117523) in dendritic cells treated with Mycobacterium tuberculosis:Parkinson's disease
1 171556165 1 PRRC2C G C exonic synonymous SNV PRRC2C:NM_015172:exon31:c.G7767C:p.S2589S RS235501 Simpson-Angus Scale:Triglycerides change with statins:Serum creatinine:Body mass index (BMI):College completion:Years of education
1 171751236 1 METTL13 T C exonic synonymous SNV METTL13:NM_001007239:exon1:c.T129C:p.H43H,METTL13:NM_015935:exon1:c.T129C:p.H43H RS2294720 Recurrent early onset major depressive disorder:Recurrent early onset major depressive disorder (males):Urinary albumin-to-creatinine ratio:Microalbuminuria:Parkinson's disease
1 171753039 1 METTL13 A G exonic nonsynonymous SNV METTL13:NM_001007239:exon2:c.A313G:p.M105V,METTL13:NM_014955:exon2:c.A55G:p.M19V,METTL13:NM_015935:exon2:c.A313G:p.M105V RS2232816 Schizophrenia:Waist hip ratio:Gene expression of KIAA0859 in blood:Serum ratio of (caproate (6:0))/(glycerol):Bipolar disorder:Refractive error:Parkinson's disease
1 171755170 1 METTL13 G A exonic synonymous SNV METTL13:NM_001007239:exon3:c.G597A:p.S199S,METTL13:NM_014955:exon3:c.G807A:p.S269S,METTL13:NM_015935:exon3:c.G1065A:p.S355S RS2232818 Waist hip ratio:Bipolar disorder:Parkinson's disease:Refractive error
1 172410967 1 PIGC G A exonic nonsynonymous SNV PIGC:NM_002642:exon2:c.C796T:p.P266S,PIGC:NM_153747:exon2:c.C796T:p.P266S RS1063412 Biploar disorder (bipolar schizoaffective disorder):Major depressive disorder:Methylation levels at chr1:170680185-170680235 [hg18 coord, probe cg08587864] in Cerebellum:Triglycerides:Asthma:Height:Urinary albumin-to-creatinine ratio:Soluble CD14:Adiponectin levels:Diabetic retinopathy in Type 2 diabetes mellitus:Years of education:Tetrology of fallot
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 173878832 1 SERPINC1 T C exonic synonymous SNV SERPINC1:NM_000488:exon5:c.A1011G:p.Q337Q RS5878 2 hour insulin:Bipolar disorder, combined control dataset:Gene expression of dJ383J4.3 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Lp-PLA2 mass:Methylation levels at chr1:172153634-172153684 [hg18 coord, probe cg14047008] in Temporal cortex:Methylation levels at chr1:172153634-172153684 [hg18 coord, probe cg14047008] in Caudal pons:Methylation levels at chr1:172153634-172153684 [hg18 coord, probe cg14047008] in Cerebellum:Gene expression of LAG3 in peripheral blood monocytes:Gene expression of SPRR2F in peripheral blood monocytes:Serum ratio of (1-methylxanthine)/(1,7-dimethylurate):Bipolar disorder:Infant head circumference
1 173878862 1 SERPINC1 T C exonic synonymous SNV SERPINC1:NM_000488:exon5:c.A981G:p.V327V RS5877 Methylation levels at chr1:172153634-172153684 [hg18 coord, probe cg14047008] in Temporal cortex:Methylation levels at chr1:172153634-172153684 [hg18 coord, probe cg14047008] in Cerebellum:Methylation levels at chr1:172153634-172153684 [hg18 coord, probe cg14047008] in Caudal pons
1 177929987 1 SEC16B T C exonic nonsynonymous SNV SEC16B:NM_033127:exon7:c.A875G:p.H292R RS12040910 HDL cholesterol change with statins
1 179051300 2 TOR3A T C exonic nonsynonymous SNV TOR3A:NM_022371:exon1:c.T37C:p.F13L RS2296377 Total cholesterol change with statins
1 179084080 2 ABL2 T G exonic synonymous SNV ABL2:NM_001136001:exon8:c.A1431C:p.L477L,ABL2:NM_001168236:exon8:c.A1431C:p.L477L,ABL2:NM_001168238:exon8:c.A1431C:p.L477L,ABL2:NM_001168239:exon8:c.A1386C:p.L462L,ABL2:NM_001136000:exon9:c.A1449C:p.L483L,ABL2:NM_001168237:exon9:c.A1494C:p.L498L,ABL2:NM_005158:exon9:c.A1449C:p.L483L,ABL2:NM_007314:exon9:c.A1494C:p.L498L RS2274230 Total cholesterol:LDL cholesterol:Total cholesterol:Microalbuminuria:Serum concentration of gamma-glutamylphenylalanine:Maternal transmission distortion:Paclitaxel-induced cytotoxicity in lymphoblastoid cell lines
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 180124288 1 QSOX1 G C exonic synonymous SNV QSOX1:NM_001004128:exon1:c.G246C:p.A82A,QSOX1:NM_002826:exon1:c.G246C:p.A82A
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 180953853 1 STX6 A G exonic synonymous SNV STX6:NM_001286210:exon5:c.T348C:p.N116N,STX6:NM_005819:exon7:c.T651C:p.N217N RS3747957 HDL cholesterol:Rheumatoid arthritis:Years of education
1 181058272 1 IER5 G T exonic synonymous SNV IER5:NM_016545:exon1:c.G234T:p.G78G
1 182850727 2 DHX9 T C exonic synonymous SNV DHX9:NM_001357:exon24:c.T2859C:p.T953T
1 183072590 1 LAMC1 T C exonic synonymous SNV LAMC1:NM_002293:exon2:c.T546C:p.C182C RS2296288 Total cholesterol:HDL cholesterol:LDL cholesterol:Height:Body mass index (BMI):Microalbuminuria:Premature ovarian failure:Colorectal tumors
1 183085755 1 LAMC1 A G exonic nonsynonymous SNV LAMC1:NM_002293:exon7:c.A1372G:p.I458V RS20563 Gene expression of LAMC1 [probe 2371065] in peripheral blood mononuclear cells:Childhood acute lymphoblastic leukemia:Lp-PLA2 mass:Gene expression of LAMC1 in peripheral blood monocytes:Microalbuminuria:Serum concentration of mannitol:Serum ratio of (1,3,7-trimethylurate)/(DSGEGDFXAEGGGVR*):Sporadic Creutzfeldt-Jakob disease:Colorectal tumors
1 183086757 1 LAMC1 A C exonic synonymous SNV LAMC1:NM_002293:exon10:c.A1776C:p.A592A RS2296292 Total cholesterol:HDL cholesterol:Height:Body mass index (BMI):Microalbuminuria:Premature ovarian failure:Colorectal tumors
1 183093875 1 LAMC1 T C exonic synonymous SNV LAMC1:NM_002293:exon14:c.T2511C:p.N837N
1 183094547 1 LAMC1 T C exonic nonsynonymous SNV LAMC1:NM_002293:exon15:c.T2663C:p.L888P RS20558 Lp-PLA2 mass:Colorectal tumors:Premature ovarian failure
1 183105534 1 LAMC1 T C exonic synonymous SNV LAMC1:NM_002293:exon25:c.T4128C:p.R1376R RS20560 Comorbid depressive syndrome and alcohol dependence:Premature ovarian failure
1 183486859 2 SMG7 G A exonic synonymous SNV SMG7:NM_001174061:exon3:c.G90A:p.L30L,SMG7:NM_173156:exon4:c.G216A:p.L72L,SMG7:NM_201568:exon4:c.G216A:p.L72L,SMG7:NM_201569:exon4:c.G216A:p.L72L,SMG7:NM_001331007:exon5:c.G303A:p.L101L,SMG7:NM_001350219:exon6:c.G303A:p.L101L,SMG7:NM_001350220:exon6:c.G303A:p.L101L,SMG7:NM_001350221:exon6:c.G303A:p.L101L RS789169 Waist hip ratio
1 184020945 1 TSEN15 G A exonic nonsynonymous SNV TSEN15:NM_001127394:exon1:c.G56A:p.G19D,TSEN15:NM_001300764:exon1:c.G56A:p.G19D,TSEN15:NM_001300766:exon1:c.G56A:p.G19D,TSEN15:NM_052965:exon1:c.G56A:p.G19D RS2274432 Height:Height:LDL cholesterol:Premature ovarian failure:Height:Height:Height:Height (adults):HDL cholesterol:Height:Waist hip ratio:C1orf19 gene expression in omental adipose tissue:Gene expression of TSEN15 in blood:Gene expression of GLT25D2 in blood:Myopia
1 184023529 1 TSEN15 A C exonic nonsynonymous SNV TSEN15:NM_001127394:exon2:c.A177C:p.Q59H,TSEN15:NM_001300764:exon2:c.A177C:p.Q59H,TSEN15:NM_001300766:exon2:c.A177C:p.Q59H,TSEN15:NM_052965:exon2:c.A177C:p.Q59H RS1046934 Height:Gene expression of C1orf19 in liver:LDL cholesterol:Premature ovarian failure:HDL cholesterol:Height:Gene expression:Waist hip ratio:Gene expression of GLT25D2 in blood:Gene expression of TSEN15 in blood:Serum ratio of (lathosterol)/(scyllo-inositol):Height:Height:Height:Myopia
1 185062259 1 RNF2 C G exonic nonsynonymous SNV RNF2:NM_007212:exon4:c.C315G:p.N105K
1 185062301 1 RNF2 G A exonic synonymous SNV RNF2:NM_007212:exon4:c.G357A:p.E119E
1 185062330 1 RNF2 C T exonic nonsynonymous SNV RNF2:NM_007212:exon4:c.C386T:p.A129V
1 185062339 1 RNF2 A G exonic nonsynonymous SNV RNF2:NM_007212:exon4:c.A395G:p.N132S
1 185062379 1 RNF2 G A exonic synonymous SNV RNF2:NM_007212:exon4:c.G435A:p.E145E
1 186301436 1 TPR C T exonic nonsynonymous SNV TPR:NM_003292:exon38:c.G5495A:p.R1832H
1 197070697 1 ASPM T C exonic nonsynonymous SNV ASPM:NM_018136:exon18:c.A7684G:p.S2562G
1 197070707 1 ASPM G A exonic synonymous SNV ASPM:NM_018136:exon18:c.C7674T:p.I2558I
1 197070901 1 ASPM A G exonic nonsynonymous SNV ASPM:NM_018136:exon18:c.T7480C:p.Y2494H
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 197874949 1 C1orf53 T C exonic synonymous SNV C1orf53:NM_001024594:exon2:c.T288C:p.D96D RS2270763 Tardive dyskinesia:Triglycerides change with statins:Serum ratio of (gamma-glutamylisoleucine*)/(glutamate):Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration (geographic atrophy)
1 200522566 2 KIF14 G C exonic nonsynonymous SNV KIF14:NM_001305792:exon28:c.C3424G:p.P1142A,KIF14:NM_014875:exon30:c.C4897G:p.P1633A RS12120084 2 hour glucose:HDL cholesterol:Serum creatinine:LDL cholesterol:Height
1 200558363 2 KIF14 T C exonic synonymous SNV KIF14:NM_001305792:exon16:c.A1623G:p.E541E,KIF14:NM_014875:exon18:c.A3096G:p.E1032E RS6665951 Type 2 diabetes:HDL cholesterol:Serum creatinine:HDL cholesterol:Body mass index (BMI):Serum ratio of (adenosine)/(bradykinin, des-arg(9)):Aortic valve calcium
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 200867492 1 C1orf106 C G exonic synonymous SNV C1orf106:NM_018265:exon2:c.C261G:p.P87P
1 200880978 1 C1orf106 C T exonic nonsynonymous SNV C1orf106:NM_001142569:exon9:c.C1357T:p.R453C,C1orf106:NM_018265:exon9:c.C1654T:p.R552C
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 201355522 1 LAD1 T C exonic nonsynonymous SNV LAD1:NM_005558:exon3:c.A967G:p.K323E RS4128458 Fasting blood glucose
1 201355943 1 LAD1 C T exonic synonymous SNV LAD1:NM_005558:exon3:c.G546A:p.K182K RS2799677 Fasting blood glucose:hsa-miR-10a miRNA expression in lymphoblastoid cell lines :hsa-miR-363 miRNA expression in lymphoblastoid cell lines 
1 201934578 1 TIMM17A G A exonic nonsynonymous SNV TIMM17A:NM_006335:exon5:c.G337A:p.V113I RS4648 Total cholesterol:LDL cholesterol:Microalbuminuria
1 201969082 1 RNPEP G A exonic synonymous SNV RNPEP:NM_001319183:exon5:c.G273A:p.Q91Q,RNPEP:NM_001319184:exon5:c.G273A:p.Q91Q,RNPEP:NM_001319182:exon6:c.G750A:p.Q250Q,RNPEP:NM_020216:exon6:c.G1143A:p.Q381Q RS1130790 Radiation response to therapy (radiation AUC):Gene expression of RNPEP in normal prepouch ileum:Diabetic retinopathy in Type 2 diabetes mellitus
1 201970562 2 RNPEP T C exonic synonymous SNV RNPEP:NM_001319183:exon6:c.T393C:p.V131V,RNPEP:NM_001319184:exon6:c.T393C:p.V131V,RNPEP:NM_001319182:exon7:c.T870C:p.V290V,RNPEP:NM_020216:exon7:c.T1263C:p.V421V
1 201981218 1 ELF3 C G exonic synonymous SNV ELF3:NM_001114309:exon3:c.C297G:p.G99G,ELF3:NM_004433:exon3:c.C297G:p.G99G
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 202304868 1 UBE2T T C exonic synonymous SNV UBE2T:NM_014176:exon2:c.A15G:p.S5S RS14451 Triglycerides:Rheumatoid arthritis:Body mass index (BMI):Serum concentration of taurochenodeoxycholate
1 202698963 1 KDM5B A G exonic nonsynonymous SNV KDM5B:NM_001347591:exon25:c.T4234C:p.Y1412H,KDM5B:NM_006618:exon26:c.T4369C:p.Y1457H,KDM5B:NM_001314042:exon27:c.T4477C:p.Y1493H
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 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 203766827 1 ZBED6 T C exonic synonymous SNV ZBED6:NM_001174108:exon1:c.T177C:p.P59P RS872032 Total cholesterol change with statins:Rheumatoid arthritis:LDL cholesterol:Height:Variant Creutzfeldt-Jakob disease
1 203818973 1 ZC3H11A C A exonic synonymous SNV ZC3H11A:NM_001350264:exon15:c.C1758A:p.A586A,ZC3H11A:NM_001350263:exon16:c.C1758A:p.A586A,ZC3H11A:NM_001350265:exon16:c.C1758A:p.A586A,ZC3H11A:NM_001319238:exon17:c.C1758A:p.A586A,ZC3H11A:NM_001319239:exon17:c.C1758A:p.A586A,ZC3H11A:NM_001350261:exon17:c.C1758A:p.A586A,ZC3H11A:NM_001350262:exon17:c.C1758A:p.A586A,ZC3H11A:NM_001350266:exon17:c.C1758A:p.A586A,ZC3H11A:NM_014827:exon17:c.C1758A:p.A586A
1 203821314 1 ZC3H11A G A exonic synonymous SNV ZC3H11A:NM_001350264:exon18:c.G2220A:p.P740P,ZC3H11A:NM_001350263:exon19:c.G2220A:p.P740P,ZC3H11A:NM_001350265:exon19:c.G2214A:p.P738P,ZC3H11A:NM_001319238:exon20:c.G2220A:p.P740P,ZC3H11A:NM_001319239:exon20:c.G2220A:p.P740P,ZC3H11A:NM_001350261:exon20:c.G2220A:p.P740P,ZC3H11A:NM_001350262:exon20:c.G2220A:p.P740P,ZC3H11A:NM_001350266:exon20:c.G2214A:p.P738P,ZC3H11A:NM_014827:exon20:c.G2220A:p.P740P
1 204159787 2 KISS1 G C exonic nonsynonymous SNV KISS1:NM_002256:exon3:c.C242G:p.P81R
1 204198209 2 PLEKHA6 A G exonic synonymous SNV PLEKHA6:NM_014935:exon19:c.T2607C:p.H869H RS3795571 LDL cholesterol:Age at menarche
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 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 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 206634429 1 SRGAP2 A G exonic unknown UNKNOWN
1 206647742 2 IKBKE A G exonic synonymous SNV IKBKE:NM_001193322:exon4:c.A156G:p.Q52Q,IKBKE:NM_014002:exon4:c.A156G:p.Q52Q
1 206647787 2 IKBKE T C exonic synonymous SNV IKBKE:NM_001193322:exon4:c.T201C:p.I67I,IKBKE:NM_014002:exon4:c.T201C:p.I67I RS1539243 Arthritis including non-Rheumatoid:Gene expression of IKBKE in peripheral blood monocytes:Autism:Body mass index (BMI):Gene expression of IKBKE///C1orf147 in blood:Gene expression of [probe 3130152 centered at chr1:204744311] in blood:Serum concentration of pantothenate:Coronary artery disease (CAD)
1 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 207297680 2 C4BPA T C exonic synonymous SNV C4BPA:NM_000715:exon6:c.T675C:p.G225G RS1126618 Gene expression of [probe 2340220 centered at chr1:205600102] in blood:Endometriosis
1 207304900 1 C4BPA T C exonic nonsynonymous SNV C4BPA:NM_000715:exon8:c.T899C:p.I300T RS4844573 Neuroticism:Rheumatoid arthritis:Tardive dyskinesia:Gene expression of CD55 in peripheral blood monocytes:Gene expression of [probe 2340220 centered at chr1:205600102] in blood:Serum ratio of (arabinose)/(glutamate)
1 207925595 1 CD46 C T exonic nonsynonymous SNV CD46:NM_002389:exon1:c.C38T:p.S13F,CD46:NM_153826:exon1:c.C38T:p.S13F,CD46:NM_172350:exon1:c.C38T:p.S13F,CD46:NM_172351:exon1:c.C38T:p.S13F,CD46:NM_172352:exon1:c.C38T:p.S13F,CD46:NM_172353:exon1:c.C38T:p.S13F,CD46:NM_172359:exon1:c.C38T:p.S13F,CD46:NM_172361:exon1:c.C38T:p.S13F
1 207933047 1 CD46 C T exonic synonymous SNV CD46:NM_002389:exon4:c.C453T:p.S151S,CD46:NM_153826:exon4:c.C453T:p.S151S,CD46:NM_172350:exon4:c.C453T:p.S151S,CD46:NM_172351:exon4:c.C453T:p.S151S,CD46:NM_172352:exon4:c.C453T:p.S151S,CD46:NM_172353:exon4:c.C453T:p.S151S,CD46:NM_172359:exon4:c.C453T:p.S151S,CD46:NM_172361:exon4:c.C453T:p.S151S
1 211836789 2 NEK2 T C exonic synonymous SNV NEK2:NM_002497:exon8:c.A1317G:p.R439R RS12031285 Urinary albumin-to-creatinine ratio:Body mass index (BMI):Obesity (body mass index (BMI)):Parkinson's disease
1 211840498 1 NEK2 T C exonic nonsynonymous SNV NEK2:NM_001204182:exon7:c.A1061G:p.N354S,NEK2:NM_001204183:exon7:c.A1061G:p.N354S,NEK2:NM_002497:exon7:c.A1061G:p.N354S RS2230489 Urinary albumin-to-creatinine ratio
1 211846876 2 NEK2 A G exonic synonymous SNV NEK2:NM_001204182:exon3:c.T504C:p.H168H,NEK2:NM_001204183:exon3:c.T504C:p.H168H,NEK2:NM_002497:exon3:c.T504C:p.H168H RS701929 Serum ratio of (caffeine)/(gamma-glutamylglutamate):Refractive error
1 211848807 1 NEK2 A C exonic synonymous SNV NEK2:NM_001204182:exon1:c.T15G:p.A5A,NEK2:NM_001204183:exon1:c.T15G:p.A5A,NEK2:NM_002497:exon1:c.T15G:p.A5A
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 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 213031948 1 FLVCR1 G C exonic nonsynonymous SNV FLVCR1:NM_014053:exon1:c.G154C:p.A52P RS11120047 HOMA-IR:Fasting insulin:LDL cholesterol change with statins:HDL cholesterol
1 213068595 1 FLVCR1 C T exonic nonsynonymous SNV FLVCR1:NM_014053:exon10:c.C1631T:p.T544M RS3207090 Gene expression of LQK1 [probe 235126_at] in lymphoblastoid cell lines:Eye color:Stabilized warfarin dose:HDL cholesterol:Gene expression of FLVCR1 in peripheral blood monocytes:Gene expression of NSL1 in peripheral blood monocytes:HDL cholesterol:Gene expression of LOC149643 in CD4+ lymphocytes:Gene expression of FLVCR1 in blood:Gene expression of ENST00000356684 in blood:Gene expression of NSL1 in blood:Serum ratio of (7-methylxanthine)/(gamma-tocopherol):Gene expression of LQK1 [probeset 235126_at] in sputum:Sporadic Creutzfeldt-Jakob disease:Gene expression of NSL1 in normal prepouch ileum:Gene expression of FLVCR1-AS1 in normal prepouch ileum
1 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 214813487 1 CENPF A G exonic synonymous SNV CENPF:NM_016343:exon12:c.A1806G:p.L602L RS2070066 Serum concentration of glycerol:Refractive error
1 214813941 1 CENPF C G exonic nonsynonymous SNV CENPF:NM_016343:exon12:c.C2260G:p.Q754E RS3795523 HDL cholesterol change with statins:Aortic valve calcium
1 214814125 1 CENPF G A exonic nonsynonymous SNV CENPF:NM_016343:exon12:c.G2444A:p.R815H RS3795522 HDL cholesterol change with statins:Aortic valve calcium
1 214814582 1 CENPF G A exonic synonymous SNV CENPF:NM_016343:exon12:c.G2901A:p.R967R RS3795520 HDL cholesterol change with statins:Aortic valve calcium
1 214814733 1 CENPF T G exonic nonsynonymous SNV CENPF:NM_016343:exon12:c.T3052G:p.Y1018D RS3795519 HDL cholesterol change with statins:Aortic valve calcium
1 214814778 1 CENPF G A exonic nonsynonymous SNV CENPF:NM_016343:exon12:c.G3097A:p.G1033R RS3795518 HDL cholesterol change with statins:Aortic valve calcium
1 214814995 1 CENPF C T exonic nonsynonymous SNV CENPF:NM_016343:exon12:c.C3314T:p.T1105I RS12067133 HDL cholesterol change with statins:Serum ratio of (3-methoxytyrosine)/(7-alpha-hydroxy-3-oxo-4-cholestenoate (7-Hoca)):Sporadic Creutzfeldt-Jakob disease:Obesity with early age of onset (age >2):Aortic valve calcium:Hypertension (early onset hypertension)
1 214815916 1 CENPF T C exonic nonsynonymous SNV CENPF:NM_016343:exon12:c.T4235C:p.L1412S RS3795517 HDL cholesterol change with statins:Aortic valve calcium
1 214816142 1 CENPF T G exonic synonymous SNV CENPF:NM_016343:exon12:c.T4461G:p.L1487L RS3795516 HDL cholesterol change with statins:Aortic valve calcium
1 214816297 1 CENPF A G exonic nonsynonymous SNV CENPF:NM_016343:exon12:c.A4616G:p.K1539R RS3795514 HDL cholesterol change with statins:PROP taste detection threshold:Obesity with early age of onset (age >2):Aortic valve calcium
1 214818215 1 CENPF G A exonic nonsynonymous SNV CENPF:NM_016343:exon13:c.G5302A:p.D1768N
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 214818846 1 CENPF A G exonic nonsynonymous SNV CENPF:NM_016343:exon13:c.A5933G:p.D1978G RS3790646 HDL cholesterol change with statins:Aortic valve calcium
1 214818945 1 CENPF A C exonic nonsynonymous SNV CENPF:NM_016343:exon13:c.A6032C:p.E2011A RS3790647 HDL cholesterol change with statins:Aortic valve calcium
1 214819587 1 CENPF A G exonic nonsynonymous SNV CENPF:NM_016343:exon13:c.A6674G:p.Q2225R RS12058704 HDL cholesterol change with statins:Aortic valve calcium
1 214819980 1 CENPF C T exonic nonsynonymous SNV CENPF:NM_016343:exon13:c.C7067T:p.A2356V RS3748696 HDL cholesterol change with statins:Total cholesterol:Aortic valve calcium
1 214820299 1 CENPF A G exonic synonymous SNV CENPF:NM_016343:exon13:c.A7386G:p.E2462E RS3748698 Amyotrophic lateral sclerosis (ALS):HDL cholesterol change with statins:Sporadic Creutzfeldt-Jakob disease:Aortic valve calcium:Obesity with early age of onset (age >2):Hypertension (early onset hypertension)
1 214820494 1 CENPF G A exonic synonymous SNV CENPF:NM_016343:exon13:c.G7581A:p.L2527L RS3790648 HDL cholesterol change with statins:Serum concentration of glycerol:Aortic valve calcium
1 214820524 1 CENPF T C exonic synonymous SNV CENPF:NM_016343:exon13:c.T7611C:p.L2537L RS3790649 HDL cholesterol change with statins:Aortic valve calcium
1 214826196 2 CENPF G A exonic nonsynonymous SNV CENPF:NM_016343:exon16:c.G8186A:p.R2729Q RS335524 Stabilized warfarin dose:Longstanding arthritis:Height:Adiponectin levels:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Birth weight
1 214830617 2 CENPF A G exonic nonsynonymous SNV CENPF:NM_016343:exon18:c.A8827G:p.R2943G RS438034 Neuroblastoma (brain cancer):Chronic lymphocytic leukemia outcome in response to chemotherapy (progression free survival):Serum ratio of (3-phenylpropionate (hydrocinnamate))/(androsterone sulfate):Topiramate plasma level change in healthy volunteers in response to topiramate treatment:Multiple myeloma:Birth weight:Adiponectin levels
1 214837110 2 CENPF C G exonic nonsynonymous SNV CENPF:NM_016343:exon20:c.C9318G:p.N3106K RS7289 Lp-PLA2 mass:Birth weight:Adiponectin levels
1 215793834 2 KCTD3 G A exonic synonymous SNV KCTD3:NM_001319294:exon18:c.G2316A:p.A772A,KCTD3:NM_001319295:exon18:c.G2010A:p.A670A,KCTD3:NM_016121:exon18:c.G2322A:p.A774A RS14137 Serum creatinine:Years of education:College completion
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 220970028 2 1-Mar A G exonic nonsynonymous SNV MARC1:NM_022746:exon3:c.A493G:p.T165A RS2642438 Rheumatoid arthritis:HDL cholesterol:LDL cholesterol:Serum creatinine:Triglycerides:HDL cholesterol:Total cholesterol:LDL cholesterol:Plasma docosapentaenoic acid levels
1 222802006 2 MIA3 A G exonic nonsynonymous SNV MIA3:NM_001324062:exon4:c.A1444G:p.K482E,MIA3:NM_001324063:exon4:c.A1444G:p.K482E,MIA3:NM_198551:exon4:c.A1444G:p.K482E,MIA3:NM_001324064:exon5:c.A952G:p.K318E
1 222802376 1 MIA3 A G exonic nonsynonymous SNV MIA3:NM_001324062:exon4:c.A1814G:p.K605R,MIA3:NM_001324063:exon4:c.A1814G:p.K605R,MIA3:NM_198551:exon4:c.A1814G:p.K605R,MIA3:NM_001324064:exon5:c.A1322G:p.K441R
1 222802803 1 MIA3 T G exonic synonymous SNV MIA3:NM_001324062:exon4:c.T2241G:p.P747P,MIA3:NM_001324063:exon4:c.T2241G:p.P747P,MIA3:NM_198551:exon4:c.T2241G:p.P747P,MIA3:NM_001324064:exon5:c.T1749G:p.P583P
1 222802926 2 MIA3 C T exonic synonymous SNV MIA3:NM_001324062:exon4:c.C2364T:p.S788S,MIA3:NM_001324063:exon4:c.C2364T:p.S788S,MIA3:NM_198551:exon4:c.C2364T:p.S788S,MIA3:NM_001324064:exon5:c.C1872T:p.S624S
1 222803204 1 MIA3 A G exonic nonsynonymous SNV MIA3:NM_001324062:exon4:c.A2642G:p.E881G,MIA3:NM_001324063:exon4:c.A2642G:p.E881G,MIA3:NM_198551:exon4:c.A2642G:p.E881G,MIA3:NM_001324064:exon5:c.A2150G:p.E717G
1 222833601 2 MIA3 T C exonic synonymous SNV MIA3:NM_001300867:exon19:c.T1692C:p.P564P,MIA3:NM_001324065:exon19:c.T1692C:p.P564P,MIA3:NM_001324063:exon22:c.T4881C:p.P1627P,MIA3:NM_001324062:exon24:c.T5058C:p.P1686P,MIA3:NM_198551:exon24:c.T5058C:p.P1686P,MIA3:NM_001324064:exon25:c.T4566C:p.P1522P
1 223900408 2 CAPN2 C G exonic nonsynonymous SNV CAPN2:NM_001748:exon1:c.C66G:p.D22E
1 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 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 225611661 1 LBR C T exonic synonymous SNV LBR:NM_002296:exon2:c.G117A:p.V39V,LBR:NM_194442:exon2:c.G117A:p.V39V RS1056607 Triglycerides:LDL cholesterol change with statins:Serum ratio of (1-stearoylglycerol (1-monostearin))/(isoleucine)
1 226109284 1 PYCR2 G A exonic synonymous SNV PYCR2:NM_001271681:exon4:c.C379T:p.L127L,PYCR2:NM_013328:exon5:c.C601T:p.L201L
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 227149203 1 COQ8A G A exonic synonymous SNV COQ8A:NM_020247:exon2:c.G117A:p.A39A RS11549708 Comorbid depressive syndrome and alcohol dependence
1 227172290 2 COQ8A C T exonic synonymous SNV COQ8A:NM_020247:exon12:c.C1440T:p.F480F RS12593 Suicide attempts in major depressive disorder:Suicide attempts in mood disorder patients:Serum ratio of (ascorbate (Vitamin C))/(stachydrine):Gene expression of CABC1 (probeID ILMN_1731064) in whole blood
1 227174210 2 COQ8A T C exonic synonymous SNV COQ8A:NM_020247:exon15:c.T1716C:p.S572S RS3738725 Gene expression of CABC1 in blood cells in Celiac disease:Differential exon level expression of CABC1 [probe 2383420] in peripheral blood mononuclear cells:Premature ovarian failure:Gene expression of PSEN2///AL391628.18 in blood:Gene expression of CABC1 in blood:Serum concentration of phenol sulfate:Gene expression of CABC1 [probeset 218168_s_at] in sputum:Comorbid depressive syndrome and alcohol dependence:Age at death with kuru exposure:Gene expression of CABC1 (probeID ILMN_1731064) in whole blood
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 227920103 2 JMJD4 G A exonic nonsynonymous SNV JMJD4:NM_001161465:exon6:c.C1334T:p.A445V,JMJD4:NM_023007:exon6:c.C1382T:p.A461V
1 227922918 2 JMJD4 A C exonic nonsynonymous SNV JMJD4:NM_001161465:exon1:c.T195G:p.D65E,JMJD4:NM_023007:exon1:c.T195G:p.D65E RS2295994 Height:Waist hip ratio:Refractive error
1 227935444 2 SNAP47 A G exonic nonsynonymous SNV SNAP47:NM_001323930:exon2:c.A7G:p.R3G,SNAP47:NM_001323934:exon2:c.A7G:p.R3G,SNAP47:NM_001323935:exon2:c.A142G:p.R48G,SNAP47:NM_053052:exon2:c.A142G:p.R48G,SNAP47:NM_001323931:exon3:c.A7G:p.R3G,SNAP47:NM_001323932:exon3:c.A7G:p.R3G,SNAP47:NM_001323933:exon4:c.A7G:p.R3G RS2236359 Stabilized warfarin dose:Lp-PLA2 activity:Gene expression of JMJD4 in CD4+ lymphocytes:Height:Waist hip ratio:Gene expression of SNAP47 [transcript NM_053052, probe A_23_P393607] in liver:Gene expression of C1orf142///JMJD4 in blood:Transmission distortion:Hypothyroidism:Refractive error:Paternal transmission distortion
1 228353651 2 IBA57 G C exonic nonsynonymous SNV IBA57:NM_001010867:exon1:c.G134C:p.G45A
1 229461024 1 CCSAP C T exonic synonymous SNV CCSAP:NM_145257:exon4:c.G771A:p.P257P RS2282083 Triglycerides change with statins:Diastolic blood pressure (DBP):Aortic valve calcium
1 229622162 2 NUP133 A G exonic synonymous SNV NUP133:NM_018230:exon11:c.T1456C:p.L486L
1 229623338 2 NUP133 T C exonic nonsynonymous SNV NUP133:NM_018230:exon10:c.A1217G:p.Q406R RS1065674 Spine bone mineral density (BMD):Panic disorder:Total cholesterol:LDL cholesterol:Lp-PLA2 activity:Triglycerides:Serum concentration of saccharin:Salmonella-induced pyroptosis
1 229631734 2 NUP133 T C exonic nonsynonymous SNV NUP133:NM_018230:exon7:c.A880G:p.I294V RS11805194 Spine bone mineral density (BMD):Total cholesterol:LDL cholesterol:Serum creatinine:Lp-PLA2 activity:Salmonella-induced pyroptosis
1 229635521 2 NUP133 A G exonic synonymous SNV NUP133:NM_018230:exon5:c.T558C:p.Y186Y RS10916495 Total cholesterol:LDL cholesterol:Serum creatinine:Salmonella-induced pyroptosis
1 229683264 2 ABCB10 G A exonic synonymous SNV ABCB10:NM_012089:exon3:c.C903T:p.S301S RS3738187 LDL cholesterol:Serum creatinine:Cystatin C in serum:Age at death with kuru exposure
1 229730452 2 TAF5L G A exonic synonymous SNV TAF5L:NM_014409:exon5:c.C1362T:p.S454S RS2295625 Stabilized warfarin dose:Longstanding arthritis:Arthritis including non-Rheumatoid:Total cholesterol change with statins:Neuroblastoma (brain cancer):Gene expression of KIAA0133 [probe ILMN_5835] in osteoblasts treated with BMP2:Gene expression of KIAA0133 [probe ILMN_5835] in osteoblasts treated with bmp:Gene expression of [probe Human_RefSeq-8_v2-6270750 centered at chr1:227801787] in blood:Gene expression of KIAA0133 in blood:Serum concentration of 1-stearoylglycerol (1-monostearin):Variant Creutzfeldt-Jakob disease:Sporadic Creutzfeldt-Jakob disease
1 229737995 1 TAF5L G A exonic nonsynonymous SNV TAF5L:NM_001025247:exon4:c.C919T:p.H307Y,TAF5L:NM_014409:exon4:c.C919T:p.H307Y
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 230845794 2 AGT A G exonic nonsynonymous SNV AGT:NM_000029:exon2:c.T803C:p.M268T RS699 Partial epilepsy:Asthma:Hypertension:Gene expression of COG2 in normal prepouch ileum:Hypertriglyceridemia:Gene expression of AGT (probeID ILMN_1813530) in cerebellum in Alzheimer's disease cases:Gene expression of AGT (probeID ILMN_1813530) in cerebellum in Alzheimer's disease cases and controls:Gene expression of AGT (probeID ILMN_1813530) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of AGT (probeID ILMN_1813530) in cerebellum in non-Alzheimer's disease samples:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
1 231114465 2 TTC13 C G exonic nonsynonymous SNV TTC13:NM_001122835:exon1:c.G112C:p.G38R,TTC13:NM_024525:exon1:c.G112C:p.G38R
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 231830295 2 DISC1 G A exonic nonsynonymous SNV DISC1:NM_001012957:exon2:c.G791A:p.R264Q,DISC1:NM_001012958:exon2:c.G791A:p.R264Q,DISC1:NM_001012959:exon2:c.G791A:p.R264Q,DISC1:NM_001164537:exon2:c.G791A:p.R264Q,DISC1:NM_001164538:exon2:c.G791A:p.R264Q,DISC1:NM_001164539:exon2:c.G791A:p.R264Q,DISC1:NM_001164540:exon2:c.G791A:p.R264Q,DISC1:NM_001164541:exon2:c.G791A:p.R264Q,DISC1:NM_001164542:exon2:c.G791A:p.R264Q,DISC1:NM_001164544:exon2:c.G791A:p.R264Q,DISC1:NM_001164545:exon2:c.G791A:p.R264Q,DISC1:NM_001164546:exon2:c.G791A:p.R264Q,DISC1:NM_001164547:exon2:c.G791A:p.R264Q,DISC1:NM_001164548:exon2:c.G791A:p.R264Q,DISC1:NM_001164549:exon2:c.G791A:p.R264Q,DISC1:NM_001164550:exon2:c.G791A:p.R264Q,DISC1:NM_001164551:exon2:c.G791A:p.R264Q,DISC1:NM_001164552:exon2:c.G791A:p.R264Q,DISC1:NM_001164553:exon2:c.G791A:p.R264Q,DISC1:NM_001164554:exon2:c.G791A:p.R264Q,DISC1:NM_001164555:exon2:c.G791A:p.R264Q,DISC1:NM_018662:exon2:c.G791A:p.R264Q RS3738401 Schizophrenia:Tardive dyskinesia:Gene expression of DISC1 in blood
1 234509259 2 COA6 G C exonic nonsynonymous SNV COA6:NM_001206641:exon1:c.G47C:p.S16T RS10910420 LDL cholesterol:Triglycerides change with statins:Total cholesterol:LDL cholesterol:Systolic blood pressure (SBP):Diastolic blood pressure (DBP)
1 234546245 2 TARBP1 C T exonic synonymous SNV TARBP1:NM_005646:exon23:c.G3738A:p.T1246T RS1141264 LDL cholesterol:LDL cholesterol:Body mass index (BMI):Gene expression of C1orf31 [transcript NM_001012985, probe A_23_P63459] in liver:Gene expression of C1orf31 [probeset 225638_at] in sputum:Sporadic Creutzfeldt-Jakob disease:Mitral annular calcium:Parkinson's disease
1 234582651 1 TARBP1 T C exonic nonsynonymous SNV TARBP1:NM_005646:exon12:c.A2032G:p.S678G RS4920246 College completion
1 234744480 1 IRF2BP2 G A exonic nonsynonymous SNV IRF2BP2:NM_001077397:exon1:c.C761T:p.A254V,IRF2BP2:NM_182972:exon1:c.C761T:p.A254V
1 236141174 2 NID1 T C exonic nonsynonymous SNV NID1:NM_002508:exon20:c.A3737G:p.Q1246R RS3213190 Waist hip ratio:Serum ratio of (butyrylcarnitine)/(gamma-glutamyltyrosine):Age at death with kuru exposure:Transmission distortion:Paternal transmission distortion
1 236144951 2 NID1 A G exonic synonymous SNV NID1:NM_002508:exon16:c.T3187C:p.L1063L RS3738525 Triglycerides:Waist hip ratio:Serum ratio of (creatinine)/(tyrosine):Diastolic blood pressure (DBP):Age at death with kuru exposure
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 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 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 236723108 1 HEATR1 C T exonic nonsynonymous SNV HEATR1:NM_018072:exon34:c.G4676A:p.S1559N RS6661946 HDL cholesterol:LDL cholesterol:Nicotine dependence (smoking):Tardive dyskinesia:Abnormal Involuntary Movement Scale:HOMA-B:Fasting blood glucose:Recurrent early onset major depressive disorder:Recurrent early onset major depressive disorder (females):Gene expression of LGALS8 in peripheral blood monocytes:Serum ratio of (1-heptadecanoylglycerophosphocholine)/(2-oleoylglycerophosphocholine*):Systolic blood pressure (SBP):Gene expression of LGALS8 in normal prepouch ileum:Transmission distortion:Birth weight
1 236746443 1 HEATR1 C T exonic synonymous SNV HEATR1:NM_018072:exon18:c.G2295A:p.V765V RS2794768 Gene expression of HEATR1 [probe 232414_at] in lymphoblastoid cell lines:LDL cholesterol:Triglycerides:Fasting insulin:HOMA-IR:HDL cholesterol change with statins:PROP taste detection threshold:Years of education:Salmonella-induced pyroptosis:College completion
1 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 236755837 1 HEATR1 C T exonic synonymous SNV HEATR1:NM_018072:exon10:c.G1290A:p.R430R RS2564739 LDL cholesterol:HDL cholesterol change with statins:PROP taste detection threshold:College completion:Years of education
1 236758887 1 HEATR1 T C exonic nonsynonymous SNV HEATR1:NM_018072:exon8:c.A1043G:p.H348R RS2794751 Gene expression of HEATR1 [probe 232414_at] in lymphoblastoid cell lines:Triglycerides:HDL cholesterol change with statins:Asthma:PROP taste detection threshold:College completion:Transmission distortion:Salmonella-induced pyroptosis:Years of education:Paternal transmission distortion
1 236767330 1 HEATR1 A G exonic synonymous SNV HEATR1:NM_018072:exon2:c.T66C:p.S22S RS10802551 Gene expression of HEATR1 [probe 232414_at] in lymphoblastoid cell lines:LDL cholesterol:HDL cholesterol change with statins:HDL cholesterol:Total cholesterol:Years of education:College completion:Obesity with early age of onset (age >2)
1 237058743 1 MTR G A exonic nonsynonymous SNV MTR:NM_001291939:exon30:c.G3338A:p.R1113H,MTR:NM_001291940:exon30:c.G2270A:p.R757H,MTR:NM_000254:exon31:c.G3491A:p.R1164H
1 242042301 2 EXO1 G A exonic nonsynonymous SNV EXO1:NM_003686:exon11:c.G1765A:p.E589K,EXO1:NM_006027:exon11:c.G1765A:p.E589K,EXO1:NM_001319224:exon12:c.G1762A:p.E588K,EXO1:NM_130398:exon13:c.G1765A:p.E589K RS1047840 Schizophrenia:Lp-PLA2 mass:Partial epilepsy:HDL cholesterol:Microalbuminuria:Late onset Alzheimer's disease:Serum concentration of caffeine
1 242042454 1 EXO1 C G exonic nonsynonymous SNV EXO1:NM_003686:exon11:c.C1918G:p.P640A,EXO1:NM_006027:exon11:c.C1918G:p.P640A,EXO1:NM_001319224:exon12:c.C1915G:p.P639A,EXO1:NM_130398:exon13:c.C1918G:p.P640A
1 242045275 2 EXO1 C T exonic nonsynonymous SNV EXO1:NM_003686:exon12:c.C2167T:p.R723C,EXO1:NM_006027:exon12:c.C2167T:p.R723C,EXO1:NM_001319224:exon13:c.C2164T:p.R722C,EXO1:NM_130398:exon14:c.C2167T:p.R723C
1 246021941 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 246714587 2 TFB2M G A exonic synonymous SNV TFB2M:NM_022366:exon5:c.C723T:p.P241P
1 246720798 2 TFB2M G A exonic synonymous SNV TFB2M:NM_022366:exon3:c.C441T:p.I147I
1 246755124 2 CNST T C exonic nonsynonymous SNV CNST:NM_001139459:exon2:c.T260C:p.L87S,CNST:NM_152609:exon2:c.T260C:p.L87S RS6702823 Stabilized warfarin dose:2 hour glucose:Rheumatoid arthritis:Serum ratio of (2-stearoylglycerophosphocholine*)/(alpha-ketoglutarate):Maternal transmission distortion:Parkinson's disease:Coronary artery disease (CAD):Tetrology of fallot
1 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 45895 2 FAM110C A G exonic nonsynonymous SNV FAM110C:NM_001077710:exon1:c.T491C:p.I164T
2 3483181 1 TRAPPC12 C T exonic synonymous SNV TRAPPC12:NM_001321102:exon12:c.C2157T:p.V719V,TRAPPC12:NM_016030:exon12:c.C2157T:p.V719V
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 3504687 1 ADI1 A G exonic synonymous SNV ADI1:NM_001306077:exon3:c.T300C:p.D100D,ADI1:NM_018269:exon3:c.T318C:p.D106D RS9950 Gene expression of SIPL in CHB-JPT lymphoblastoid cell lines:Total cholesterol change with statins:Gene expression of ADI1 (ENSG00000182551) in dendritic cells:Gene expression of ADI1 (ENSG00000182551) in dendritic cells treated with Mycobacterium tuberculosis
2 3597974 2 RNASEH1 T C exonic synonymous SNV RNASEH1:NM_001286834:exon4:c.A420G:p.P140P,RNASEH1:NM_001286837:exon4:c.A147G:p.P49P,RNASEH1:NM_002936:exon4:c.A498G:p.P166P RS10186193 Fasting blood glucose:Gene expression of COLEC11 (probeID ILMN_1735192) in temporal cortex in Alzheimer's disease cases and controls:Salmonella-induced pyroptosis:Gene expression of COLEC11 (probeID ILMN_1735192) in cerebellum in Alzheimer's disease cases and controls
2 7137067 2 RNF144A A G exonic nonsynonymous SNV RNF144A:NM_001349181:exon3:c.A10G:p.T4A,RNF144A:NM_001349182:exon3:c.A10G:p.T4A,RNF144A:NM_001349183:exon3:c.A10G:p.T4A,RNF144A:NM_001349184:exon3:c.A10G:p.T4A,RNF144A:NM_001349185:exon3:c.A10G:p.T4A,RNF144A:NM_014746:exon3:c.A10G:p.T4A RS364891 Differential exon level expression of RNF144A [probe 2468399] in peripheral blood mononuclear cells:Abnormal Involuntary Movement Scale:Neuroblastoma (brain cancer):Gene expression of [probe 20433 centered at chr2:7115837] in blood:Bipolar disorder:Gene expression of RNF144A in normal prepouch ileum:Mitral annular calcium:Prostate cancer
2 7154632 2 RNF144A T C exonic synonymous SNV RNF144A:NM_001349181:exon4:c.T183C:p.T61T,RNF144A:NM_001349182:exon4:c.T183C:p.T61T,RNF144A:NM_001349183:exon4:c.T183C:p.T61T,RNF144A:NM_001349184:exon4:c.T183C:p.T61T,RNF144A:NM_001349185:exon4:c.T183C:p.T61T,RNF144A:NM_014746:exon4:c.T183C:p.T61T
2 7164578 1 RNF144A A G exonic synonymous SNV RNF144A:NM_001349186:exon6:c.A339G:p.E113E,RNF144A:NM_001349181:exon7:c.A588G:p.E196E,RNF144A:NM_001349182:exon7:c.A588G:p.E196E,RNF144A:NM_001349183:exon7:c.A588G:p.E196E,RNF144A:NM_001349184:exon7:c.A588G:p.E196E,RNF144A:NM_001349185:exon7:c.A588G:p.E196E,RNF144A:NM_014746:exon7:c.A588G:p.E196E RS376219 HDL cholesterol:Triglycerides:Mitral annular calcium:Birth weight
2 9634856 1 ADAM17 A G exonic synonymous SNV ADAM17:NM_003183:exon15:c.T1824C:p.S608S RS1048610 Triglycerides:Triglycerides:Height:Gene expression of IAH1 in normal prepouch ileum:College completion
2 10045014 2 TAF1B C T exonic synonymous SNV TAF1B:NM_001318977:exon8:c.C69T:p.Y23Y,TAF1B:NM_001318976:exon9:c.C69T:p.Y23Y,TAF1B:NM_005680:exon9:c.C834T:p.Y278Y RS400917 Refractive error
2 10045024 2 TAF1B G A exonic nonsynonymous SNV TAF1B:NM_001318977:exon8:c.G79A:p.V27I,TAF1B:NM_001318976:exon9:c.G79A:p.V27I,TAF1B:NM_005680:exon9:c.G844A:p.V282I
2 10050947 1 TAF1B T C exonic synonymous SNV TAF1B:NM_001318977:exon9:c.T273C:p.A91A,TAF1B:NM_001318976:exon10:c.T273C:p.A91A,TAF1B:NM_005680:exon10:c.T1038C:p.A346A RS1054561 HDL cholesterol change with statins:Total cholesterol change with statins:Gene expression of TAF1B in normal prepouch ileum
2 10059770 1 TAF1B G T exonic nonsynonymous SNV TAF1B:NM_001318977:exon13:c.G621T:p.E207D,TAF1B:NM_001318976:exon14:c.G621T:p.E207D,TAF1B:NM_005680:exon14:c.G1386T:p.E462D RS1820965 Differential exon level expression of TAF1B [probe 2469139] in peripheral blood mononuclear cells:Differential exon level expression of TAF1B [probe 2469139] in brain cortex:Total cholesterol change with statins:Gene expression of KLF11 in blood:Gene expression of TAF1B in blood:Age at death with kuru exposure:Hypertension (early onset hypertension):Adiponectin levels:Gene expression of TAF1B in normal prepouch ileum:Birth weight:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
2 10126330 1 GRHL1 G A exonic nonsynonymous SNV GRHL1:NM_198182:exon9:c.G1189A:p.V397I RS2303920 Arthritis including non-Rheumatoid:Serum creatinine:Neuroblastoma (brain cancer):Diastolic blood pressure (DBP):Bipolar disorder:Birth weight:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
2 10188649 1 KLF11 A T exonic synonymous SNV KLF11:NM_001177716:exon3:c.A1134T:p.V378V,KLF11:NM_001177718:exon3:c.A1134T:p.V378V,KLF11:NM_003597:exon3:c.A1185T:p.V395V
2 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 10712278 1 NOL10 C T exonic synonymous SNV NOL10:NM_001261392:exon20:c.G1908A:p.L636L,NOL10:NM_001261394:exon20:c.G1836A:p.L612L,NOL10:NM_024894:exon21:c.G1986A:p.L662L RS3732114 Triglycerides:Differential exon level expression of NOL10 [probe 2540222] in peripheral blood mononuclear cells:Differential exon level expression of NOL10 [probe 2540222] in brain cortex:Gene expression of HPCAL1 in blood:Bipolar disorder
2 10930903 2 PDIA6 T C exonic nonsynonymous SNV PDIA6:NM_005742:exon7:c.A641G:p.K214R,PDIA6:NM_001282705:exon8:c.A785G:p.K262R,PDIA6:NM_001282706:exon8:c.A656G:p.K219R,PDIA6:NM_001282707:exon8:c.A632G:p.K211R,PDIA6:NM_001282704:exon9:c.A797G:p.K266R RS4807 Rheumatoid arthritis:Body mass index (BMI):Gene expression of PDIA6 in blood:Serum ratio of (bilirubin (E,E)*)/(biliverdin)
2 10933249 2 PDIA6 C T exonic synonymous SNV PDIA6:NM_005742:exon5:c.G426A:p.R142R,PDIA6:NM_001282705:exon6:c.G570A:p.R190R,PDIA6:NM_001282706:exon6:c.G441A:p.R147R,PDIA6:NM_001282707:exon6:c.G417A:p.R139R,PDIA6:NM_001282704:exon7:c.G582A:p.R194R RS4799 Differential splicing of PDIA6 [probeset 2540337] in lymphoblastoid cell lines:Bipolar disorder:Severe diabetic retinopathy:Schizophrenia:Gene expression of PDIA6 in blood:Serum ratio of (biliverdin)/(oleoylcarnitine):Variant Creutzfeldt-Jakob disease:Parkinson's disease
2 10942687 2 PDIA6 C T exonic synonymous SNV PDIA6:NM_005742:exon2:c.G99A:p.S33S,PDIA6:NM_001282705:exon3:c.G243A:p.S81S,PDIA6:NM_001282706:exon3:c.G114A:p.S38S,PDIA6:NM_001282707:exon3:c.G90A:p.S30S,PDIA6:NM_001282704:exon4:c.G255A:p.S85S RS4758 Differential splicing of PDIA6 [probeset 2540337] in lymphoblastoid cell lines:HOMA-B:Fasting insulin:Total cholesterol
2 11587794 1 E2F6 G A exonic nonsynonymous SNV E2F6:NM_001278278:exon5:c.C533T:p.T178I,E2F6:NM_198256:exon6:c.C758T:p.T253I,E2F6:NM_212540:exon6:c.C302T:p.T101I,E2F6:NM_001278275:exon7:c.C662T:p.T221I,E2F6:NM_001278276:exon7:c.C533T:p.T178I,E2F6:NM_001278277:exon8:c.C533T:p.T178I
2 11702661 1 GREB1 A C exonic nonsynonymous SNV GREB1:NM_014668:exon3:c.A230C:p.N77T,GREB1:NM_033090:exon3:c.A230C:p.N77T,GREB1:NM_148903:exon3:c.A230C:p.N77T RS10929757 Gene expression of GREB1 [probe 2469825] in brain cortex:Differential exon level expression of GREB1 [probe 2469866] in brain cortex:Premature ovarian failure:Abnormal Involuntary Movement Scale:Total cholesterol:Serum creatinine:HDL cholesterol:Variant Creutzfeldt-Jakob disease:Primary rhegmatogenous retinal detachment
2 11738091 2 GREB1 T C exonic synonymous SNV GREB1:NM_014668:exon14:c.T2139C:p.H713H
2 11752635 2 GREB1 T C exonic synonymous SNV GREB1:NM_014668:exon19:c.T3021C:p.I1007I
2 15601441 1 NBAS C T exonic synonymous SNV NBAS:NM_015909:exon21:c.G2223A:p.L741L RS7590340 Neuroticism:Differential splicing of NAG [probeset 2541373] in lymphoblastoid cell lines:Serum ratio of (3-methylxanthine)/(mannitol):College completion:Transmission distortion:Years of education:Parkinson's disease
2 15607842 1 NBAS T C exonic nonsynonymous SNV NBAS:NM_015909:exon18:c.A1964G:p.K655R RS4668909 Differential splicing of NAG [probeset 2541373] in lymphoblastoid cell lines:Differential exon level expression of NAG [probe 2541373] in brain cortex:Premature ovarian failure:Waist hip ratio:College completion:Years of education:Parkinson's disease:Tetrology of fallot
2 15614404 1 NBAS T C exonic synonymous SNV NBAS:NM_015909:exon15:c.A1386G:p.R462R RS13014906 Differential splicing of NAG [probeset 2541373] in lymphoblastoid cell lines:College completion:Parkinson's disease:Years of education
2 15615910 1 NBAS A G exonic synonymous SNV NBAS:NM_015909:exon14:c.T1242C:p.S414S RS1990754 Differential splicing of NAG [probeset 2541373] in lymphoblastoid cell lines:College completion:Years of education:Parkinson's disease
2 15735648 1 DDX1 T C exonic synonymous SNV DDX1:NM_004939:exon3:c.T103C:p.L35L RS2302929 Triglycerides change with statins:Serum creatinine:Triglycerides
2 15747393 2 DDX1 C T exonic synonymous SNV DDX1:NM_004939:exon13:c.C912T:p.N304N RS10929378 Serum creatinine:College completion
2 17884495 1 SMC6 C T exonic nonsynonymous SNV SMC6:NM_024624:exon18:c.G2071A:p.A691T,SMC6:NM_001142286:exon19:c.G2071A:p.A691T RS1065381 Primary rhegmatogenous retinal detachment:Maternal transmission distortion
2 18736613 1 NT5C1B-RDH14;RDH14 A G exonic synonymous SNV RDH14:NM_020905:exon2:c.T855C:p.T285T,NT5C1B-RDH14:NM_001199103:exon9:c.T1797C:p.T599T
2 20131079 1 WDR35 T C exonic nonsynonymous SNV WDR35:NM_020779:exon24:c.A2915G:p.E972G,WDR35:NM_001006657:exon25:c.A2948G:p.E983G RS1191778 Gene expression of TTC32 in blood:Serum ratio of (4-vinylphenol sulfate)/(lathosterol):Gene expression of WDR35 (ENSG00000118965) in dendritic cells treated with Mycobacterium tuberculosis
2 20205680 1 MATN3 C T exonic synonymous SNV MATN3:NM_002381:exon2:c.G615A:p.E205E
2 20205848 1 MATN3 G A exonic synonymous SNV MATN3:NM_002381:exon2:c.C447T:p.A149A
2 20403794 2 SDC1 A T exonic nonsynonymous SNV SDC1:NM_002997:exon3:c.T407A:p.L136Q,SDC1:NM_001006946:exon4:c.T407A:p.L136Q
2 20403949 2 SDC1 C T exonic synonymous SNV SDC1:NM_002997:exon3:c.G252A:p.E84E,SDC1:NM_001006946:exon4:c.G252A:p.E84E
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 20870579 2 GDF7 G A exonic synonymous SNV GDF7:NM_182828:exon2:c.G747A:p.R249R
2 21224925 1 APOB C T exonic nonsynonymous SNV APOB:NM_000384:exon29:c.G13369A:p.D4457N
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 21232195 2 APOB G A exonic synonymous SNV APOB:NM_000384:exon26:c.C7545T:p.T2515T RS693 LDL cholesterol:Triglycerides:Total cholesterol:APOB (apolipoprotein B):LDL cholesterol:LDL cholesterol:LDL cholesterol in serum:HDL cholesterol:LDL cholesterol:Triglycerides:LDL cholesterol (mmol/l):Triglycerides, mmol/l:HDL cholesterol:Triglycerides:Total cholesterol:LDL cholesterol:Alpha-tocopherol plasma levels:APOB (apolipoprotein B):LDL cholesterol:APOB (apolipoprotein B):LDL cholesterol:LDL cholesterol:Total cholesterol:LDL cholesterol change with statins:HDL cholesterol:Serum creatinine:Lp-PLA2 activity:LDL cholesterol:HDL cholesterol:LDL cholesterol:Total cholesterol:Triglycerides:Total cholesterol:LDL cholesterol:LDL cholesterol:Ferritin:Triglycerides:Coronary artery disease (CAD):LDL cholesterol:Serum IDL-L:Serum XS-VLDL-L:Serum IDL-C:Adiponectin levels:Serum IDL-P:LDL cholesterol:LDL cholesterol response after 40mg daily simvastatin treatment:Serum XS-VLDL-P:Serum XS-VLDL-PL:Serum L-LDL-P:Total cholesterol:Serum L-LDL-PL:Total cholesterol:Serum IDL-FC:Serum IDL-PL:Triglycerides:Serum IDL-TG
2 21232803 2 APOB T C exonic nonsynonymous SNV APOB:NM_000384:exon26:c.A6937G:p.I2313V
2 21232804 2 APOB G A exonic synonymous SNV APOB:NM_000384:exon26:c.C6936T:p.D2312D RS1041968 APOB (apolipoprotein B):LDL cholesterol:APOB (apolipoprotein B):Serum L-LDL-P:Serum XS-VLDL-P:Serum IDL-P:Serum IDL-PL:Serum XS-VLDL-PL:Serum IDL-FC:Total cholesterol:Serum IDL-C:Serum IDL-TG:Serum L-LDL-PL:LDL cholesterol:Serum IDL-L:Serum XS-VLDL-L
2 21235475 2 APOB T C exonic nonsynonymous SNV APOB:NM_000384:exon26:c.A4265G:p.Y1422C
2 21263900 1 APOB G A exonic nonsynonymous SNV APOB:NM_000384:exon4:c.C293T:p.T98I RS1367117 Triglycerides:HDL cholesterol:LDL cholesterol:APOB (apolipoprotein B):LDL cholesterol:LDL cholesterol lipoprotein fraction concentration in fasting sample:LDL cholesterol lipoprotein fraction concentration:Fasting blood glucose:LDL cholesterol:Total cholesterol:Serum creatinine:HDL cholesterol:Triglycerides:Coronary artery disease (CAD):Total cholesterol:LDL cholesterol:LDL cholesterol:Triglycerides (ln):College completion:HDL cholesterol:Total cholesterol:Years of education:LDL cholesterol:Coronary artery disease (CAD)
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 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 25022598 1 CENPO A G exonic nonsynonymous SNV CENPO:NM_001199803:exon2:c.A83G:p.Q28R,CENPO:NM_001322101:exon3:c.A101G:p.Q34R,CENPO:NM_024322:exon3:c.A101G:p.Q34R RS1550116 Spine bone mineral density (BMD):Irritible bowel syndrome:Triglycerides:Gene expression of ADCY3 [probe 2544484] in brain cortex:Serum creatinine:Gene expression of ADCY3 in peripheral blood monocytes:HDL cholesterol:Height:Late onset Alzheimer's disease:Comorbid depressive syndrome and alcohol dependence:Obesity with early age of onset (age >2):Tetrology of fallot
2 25965635 1 ASXL2 C T exonic nonsynonymous SNV ASXL2:NM_018263:exon12:c.G3571A:p.E1191K
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 27323385 1 CGREF1 C T exonic synonymous SNV CGREF1:NM_001301324:exon5:c.G312A:p.L104L RS1131375 Fasting blood glucose:HOMA-B:LDL cholesterol:HDL cholesterol:Advanced age-related macular degeneration:Diabetic retinopathy in Type 2 diabetes mellitus:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
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 27851918 1 GPN1 G A exonic nonsynonymous SNV GPN1:NM_007266:exon1:c.G35A:p.R12K RS3749147 Triglycerides:2 hour glucose:Fasting blood glucose:HOMA-IR:Total cholesterol:Total cholesterol change with statins:Triglycerides change with statins:Cystatin C in serum:Serum creatinine:Total cholesterol:Triglycerides:Plasma protein-C levels:Waist hip ratio:Waist circumference and Triglycerides:Serum urate:Serum VLDL-D:Serum M-VLDL-P:Serum VLDL-TG:Serum M-VLDL-TG:Serum L-VLDL-L:Serum S-VLDL-TG:Serum L-VLDL-P:Serum M-VLDL-FC:Serum M-VLDL-PL:Adiponectin levels:Serum L-VLDL-TG:Serum M-VLDL-L:Plasma palmitoleic acid:Serum urate
2 27887034 2 SLC4A1AP C A exonic nonsynonymous SNV SLC4A1AP:NM_018158:exon1:c.C415A:p.P139T RS9678851 Total cholesterol:LDL cholesterol:Triglycerides:Systolic blood pressure (SBP):Gene expression of ZNF512 in normal prepouch ileum:Gene expression of SLC4A1AP (ENSG00000163798) in dendritic cells treated with Mycobacterium tuberculosis
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 32855615 2 TTC27 A G exonic synonymous SNV TTC27:NM_017735:exon2:c.A114G:p.L38L
2 32983480 1 TTC27 G A exonic nonsynonymous SNV TTC27:NM_001193509:exon13:c.G1424A:p.R475H,TTC27:NM_017735:exon13:c.G1574A:p.R525H RS2273664 PROP taste detection threshold
2 32983526 1 TTC27 C T exonic synonymous SNV TTC27:NM_001193509:exon13:c.C1470T:p.N490N,TTC27:NM_017735:exon13:c.C1620T:p.N540N RS2273665 Nonsyndromic cleft lip with or without cleft palate:Urinary albumin-to-creatinine ratio:PROP taste detection threshold:Diabetic retinopathy in Type 2 diabetes mellitus:Aortic valve calcium
2 36704144 2 CRIM1 C T exonic synonymous SNV CRIM1:NM_016441:exon6:c.C1104T:p.T368T RS848547 Triglycerides change with statins
2 36810586 1 FEZ2 T C exonic synonymous SNV FEZ2:NM_001042548:exon3:c.A402G:p.T134T,FEZ2:NM_005102:exon3:c.A402G:p.T134T RS14291 Gene expression of FEZ2 in Cerebellum:LDL cholesterol:Height:Body mass index (BMI):Adiponectin levels
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 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 37458668 1 CEBPZ G A exonic nonsynonymous SNV CEBPZ:NM_005760:exon1:c.C43T:p.P15S
2 37506939 1 PRKD3 A G exonic synonymous SNV PRKD3:NM_005813:exon7:c.T1122C:p.D374D RS3770761 Comorbid depressive syndrome and alcohol dependence:Acute lung injury following major trauma
2 37518045 1 PRKD3 G C exonic synonymous SNV PRKD3:NM_005813:exon3:c.C525G:p.L175L RS10177176 Total cholesterol:Methylation levels at chr2:37425956-37426006 [hg18 coord, probe cg16029957] in Temporal cortex:Gene expression of CEBPZ (ENSG00000115816) in dendritic cells treated with Mycobacterium tuberculosis
2 38916970 2 GALM A T exonic nonsynonymous SNV GALM:NM_138801:exon4:c.A568T:p.N190Y RS6741892 Brain serotonin transporter (5-HTT) levels (in insula):Brain serotonin transporter (5-HTT) levels (in thalamus):Brain serotonin transporter (5-HTT) levels (in dorsal cingulate cortex)
2 39008949 2 GEMIN6 G A exonic nonsynonymous SNV GEMIN6:NM_024775:exon3:c.G419A:p.G140D RS1056104 Lp-PLA2 activity:Gene expression of SOS1 in peripheral blood monocytes:Gene expression of CRHBP in peripheral blood monocytes:Serum ratio of (3-carboxy-4-methyl-5-propyl-2-furanpropanoate (CMPF))/(alpha-ketoglutarate):Nicotine dependence (smoking):Salmonella-induced pyroptosis:Coronary artery disease (CAD)
2 39025555 2 DHX57 G A exonic synonymous SNV DHX57:NM_001329963:exon24:c.C3741T:p.C1247C,DHX57:NM_198963:exon24:c.C4047T:p.C1349C RS1530853 Rheumatoid arthritis:HDL cholesterol:Differential exon level expression of GALM [probe 2477960] in peripheral blood mononuclear cells:Gene expression of GALM in blood:Parkinson's disease
2 39050359 1 DHX57 G A exonic nonsynonymous SNV DHX57:NM_001329963:exon17:c.C2761T:p.R921W,DHX57:NM_198963:exon17:c.C3067T:p.R1023W
2 39082344 2 DHX57 T C exonic nonsynonymous SNV DHX57:NM_001329963:exon8:c.A1454G:p.N485S,DHX57:NM_198963:exon8:c.A1760G:p.N587S RS7598922 Rheumatoid arthritis:Arthritis including non-Rheumatoid:Longstanding arthritis:Schizophrenia:Cystatin C in serum:Gene expression of GALM in blood:Gene expression of GEMIN6 in blood:Serum ratio of (myristate (14:0))/(palmitate (16:0)):Parkinson's disease
2 39250339 1 SOS1 C T exonic synonymous SNV SOS1:NM_005633:exon10:c.G1230A:p.Q410Q
2 39485723 1 MAP4K3 G A exonic nonsynonymous SNV MAP4K3:NM_001270425:exon29:c.C2251T:p.P751S,MAP4K3:NM_003618:exon30:c.C2314T:p.P772S
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 42990522 2 OXER1 C T exonic synonymous SNV OXER1:NM_148962:exon1:c.G798A:p.A266A RS12712859 LDL cholesterol:HDL cholesterol change with statins:Total cholesterol:LDL cholesterol:College completion:Adiponectin levels
2 43015704 1 HAAO T A exonic nonsynonymous SNV HAAO:NM_012205:exon2:c.A124T:p.T42S RS3816182 Fasting blood glucose:HOMA-B:Triglycerides:Gene expression change of OXER1 (ENSG00000162881) in dendritic cells after treatment with Mycobacterium tuberculosis:College completion:Gene expression of OXER1 (ENSG00000162881) in dendritic cells treated with Mycobacterium tuberculosis:Adiponectin levels
2 43015719 1 HAAO T C exonic nonsynonymous SNV HAAO:NM_012205:exon2:c.A109G:p.I37V RS3816183 LDL cholesterol:Schizophrenia:Gene expression of OXER1 [probe 2550325] in peripheral blood mononuclear cells:Fasting blood glucose:HDL cholesterol change with statins:Lp-PLA2 activity:Methylation levels at chr2:42873623-42873673 [hg18 coord, probe cg01561916] in Caudal pons:Methylation levels at chr2:42873623-42873673 [hg18 coord, probe cg01561916] in Cerebellum:Methylation levels at chr2:42873068-42873118 [hg18 coord, probe cg20289949] in Caudal pons:Triglycerides:Body mass index (BMI):Gene expression of HAAO [transcript NM_012205, probe A_23_P28697] in liver:Gene expression of [probe 870528 centered at chr2:42876801] in blood:Bipolar disorder in alcoholics:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Maternal transmission distortion:Gene expression of HAAO in normal prepouch ileum:Gene expression of OXER1 in normal prepouch ileum
2 43458176 1 THADA C T exonic nonsynonymous SNV THADA:NM_001083953:exon38:c.G5773A:p.E1925K,THADA:NM_001345923:exon38:c.G5770A:p.E1924K,THADA:NM_001345924:exon38:c.G5650A:p.E1884K,THADA:NM_022065:exon38:c.G5773A:p.E1925K,THADA:NM_001345925:exon39:c.G5773A:p.E1925K
2 43625184 1 THADA T A exonic nonsynonymous SNV THADA:NM_001083953:exon29:c.A4153T:p.T1385S,THADA:NM_001345923:exon29:c.A4150T:p.T1384S,THADA:NM_001345924:exon29:c.A4030T:p.T1344S,THADA:NM_022065:exon29:c.A4153T:p.T1385S,THADA:NM_001345925:exon30:c.A4153T:p.T1385S
2 44004010 1 DYNC2LI1 T C exonic nonsynonymous SNV DYNC2LI1:NM_001193464:exon2:c.T98C:p.F33S,DYNC2LI1:NM_001348912:exon2:c.T98C:p.F33S,DYNC2LI1:NM_001348913:exon2:c.T98C:p.F33S,DYNC2LI1:NM_015522:exon2:c.T98C:p.F33S,DYNC2LI1:NM_016008:exon2:c.T98C:p.F33S RS2288709 Prostate cancer aggressiveness:Partial epilepsy:Total cholesterol:LDL cholesterol:Waist hip ratio:Type 2 diabetes:College completion
2 44028013 1 DYNC2LI1 A T exonic nonsynonymous SNV DYNC2LI1:NM_001193464:exon9:c.A691T:p.I231L,DYNC2LI1:NM_001348912:exon9:c.A688T:p.I230L,DYNC2LI1:NM_001348913:exon9:c.A691T:p.I231L,DYNC2LI1:NM_016008:exon9:c.A688T:p.I230L RS11556157 LDL cholesterol:Triglycerides:Total cholesterol:LDL cholesterol:Waist hip ratio:College completion:Years of education
2 44040401 1 ABCG5 G C exonic nonsynonymous SNV ABCG5:NM_022436:exon13:c.C1810G:p.Q604E RS6720173 Gallstone disease:Abnormal Involuntary Movement Scale:Total cholesterol:LDL cholesterol:College completion
2 44209477 2 LRPPRC C T exonic synonymous SNV LRPPRC:NM_133259:exon2:c.G246A:p.Q82Q RS6741066 Gene expression of LRPPRC [probe 211971_s_at] in lymphoblastoid cell lines:Total cholesterol:LDL cholesterol:Waist hip ratio:Diastolic blood pressure (DBP):Systolic blood pressure (SBP)
2 46607644 1 EPAS1 C T exonic synonymous SNV EPAS1:NM_001430:exon12:c.C1833T:p.A611A
2 46607719 1 EPAS1 T C exonic synonymous SNV EPAS1:NM_001430:exon12:c.T1908C:p.N636N
2 47177617 1 TTC7A C T exonic synonymous SNV TTC7A:NM_001288951:exon2:c.C300T:p.S100S,TTC7A:NM_020458:exon2:c.C300T:p.S100S,TTC7A:NM_001288953:exon3:c.C198T:p.S66S
2 47601106 2 EPCAM T C exonic nonsynonymous SNV EPCAM:NM_002354:exon3:c.T344C:p.M115T RS1126497 Asthma:Gene expression of KCNK12 in blood:Serum ratio of (cysteine-glutathione disulfide)/(pyridoxate):Infant head circumference:Birth weight
2 48010488 1 MSH6 G A exonic nonsynonymous SNV MSH6:NM_000179:exon1:c.G116A:p.G39E,MSH6:NM_001281492:exon1:c.G116A:p.G39E
2 48023115 1 MSH6 T C exonic synonymous SNV MSH6:NM_000179:exon3:c.T540C:p.D180D RS1800935 Spine bone mineral density (BMD):Schizophrenia:Gene expression of MSH6 in peripheral blood monocytes:Serum ratio of (caprylate (8:0))/(pelargonate (9:0)):Comorbid depressive syndrome and alcohol dependence:Late rectal bleeding following radiation therapy for prostate cancer
2 48025764 1 MSH6 C T exonic synonymous SNV MSH6:NM_001281492:exon2:c.C252T:p.Y84Y,MSH6:NM_000179:exon4:c.C642T:p.Y214Y RS1800937 Fasting blood glucose:LDL cholesterol change with statins:Total cholesterol change with statins:Obesity (body mass index (BMI)):Body mass index (BMI)
2 48602252 1 FOXN2 C T exonic synonymous SNV FOXN2:NM_002158:exon7:c.C966T:p.S322S
2 54035508 1 ERLEC1 G C exonic nonsynonymous SNV ERLEC1:NM_001127397:exon9:c.G952C:p.V318L,ERLEC1:NM_015701:exon9:c.G952C:p.V318L RS2287345 HDL cholesterol change with statins:HDL cholesterol
2 54127041 1 PSME4 C T exonic synonymous SNV PSME4:NM_014614:exon29:c.G3399A:p.Q1133Q RS805423 HDL cholesterol change with statins:Triglycerides change with statins:HDL cholesterol:Obesity with early age of onset (age >2)
2 54844790 2 SPTBN1 C T exonic synonymous SNV SPTBN1:NM_178313:exon5:c.C573T:p.D191D,SPTBN1:NM_003128:exon6:c.C612T:p.D204D RS2229506 Serum creatinine:Chronic kidney disease:Cystatin C in serum:Body mass index (BMI):PROP taste detection threshold
2 55404794 2 CLHC1 G A exonic nonsynonymous SNV CLHC1:NM_001135598:exon10:c.C1142T:p.A381V,CLHC1:NM_152385:exon12:c.C1508T:p.A503V RS14026 Eye color:Stabilized warfarin dose:Rheumatoid arthritis:Partial epilepsy:Autism without verbal ability:Serum ratio of (homocitrulline)/(ornithine)
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 55476591 1 MTIF2 G A exonic synonymous SNV MTIF2:NM_001321004:exon8:c.C921T:p.Y307Y,MTIF2:NM_001321005:exon8:c.C192T:p.Y64Y,MTIF2:NM_001321001:exon9:c.C921T:p.Y307Y,MTIF2:NM_001321002:exon9:c.C921T:p.Y307Y,MTIF2:NM_002453:exon9:c.C921T:p.Y307Y,MTIF2:NM_001005369:exon10:c.C921T:p.Y307Y,MTIF2:NM_001321003:exon10:c.C921T:p.Y307Y RS2576709 LDL cholesterol:Urinary albumin-to-creatinine ratio
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 55771161 2 CFAP36 A G exonic nonsynonymous SNV CFAP36:NM_080667:exon8:c.A728G:p.D243G,CFAP36:NM_001282761:exon9:c.A803G:p.D268G RS1045910 HDL cholesterol change with statins:HDL cholesterol change with statins:Total cholesterol:Triglycerides change with statins:Height:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Adiponectin levels:Parkinson's disease
2 55805440 2 PPP4R3B T C exonic nonsynonymous SNV PPP4R3B:NM_001122964:exon10:c.A1507G:p.I503V
2 55883317 2 PNPT1 G T exonic synonymous SNV PNPT1:NM_033109:exon17:c.C1390A:p.R464R RS2627765 HDL cholesterol:Total cholesterol:LDL cholesterol:Serum creatinine:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Comorbid depressive syndrome and alcohol dependence
2 55912120 2 PNPT1 T C exonic nonsynonymous SNV PNPT1:NM_033109:exon4:c.A361G:p.I121V RS782572 HDL cholesterol:HDL cholesterol:Total cholesterol:LDL cholesterol:Diastolic blood pressure (DBP):Systolic blood pressure (SBP)
2 58316814 1 VRK2 A G exonic nonsynonymous SNV VRK2:NM_001288839:exon6:c.A145G:p.I49V,VRK2:NM_001130480:exon7:c.A499G:p.I167V,VRK2:NM_001130481:exon7:c.A499G:p.I167V,VRK2:NM_001130482:exon7:c.A430G:p.I144V,VRK2:NM_001130483:exon7:c.A499G:p.I167V,VRK2:NM_006296:exon7:c.A499G:p.I167V,VRK2:NM_001288836:exon8:c.A145G:p.I49V,VRK2:NM_001288838:exon9:c.A499G:p.I167V,VRK2:NM_001288837:exon10:c.A499G:p.I167V RS1051061 Years of education
2 58388696 1 FANCL A G exonic synonymous SNV FANCL:NM_001114636:exon12:c.T996C:p.S332S,FANCL:NM_018062:exon12:c.T981C:p.S327S RS848291 Irritible bowel syndrome:Bipolar disorder:Major depressive disorder:Fasting blood glucose:HOMA-IR:Bipolar disorder
2 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 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 64126623 1 VPS54 T A exonic synonymous SNV VPS54:NM_001005739:exon21:c.A2682T:p.P894P,VPS54:NM_016516:exon21:c.A2718T:p.P906P
2 65245365 1 SLC1A4 G A exonic nonsynonymous SNV SLC1A4:NM_001193493:exon5:c.G301A:p.V101I,SLC1A4:NM_001348406:exon6:c.G535A:p.V179I,SLC1A4:NM_001348407:exon6:c.G535A:p.V179I,SLC1A4:NM_003038:exon6:c.G1195A:p.V399I RS759458 Eye color:Major depressive disorder:HDL cholesterol:Triglycerides:Neuroblastoma (brain cancer):Bipolar disorder in alcoholics:Serum ratio of (hydroquinone sulfate)/(p-cresol sulfate):Serum concentration of 1-methylxanthine:Tetrology of fallot:College completion
2 65540905 1 SPRED2 C G exonic synonymous SNV SPRED2:NM_001128210:exon6:c.G978C:p.A326A,SPRED2:NM_181784:exon6:c.G987C:p.A329A RS8827 Rheumatoid arthritis
2 67630980 2 ETAA1 G A exonic nonsynonymous SNV ETAA1:NM_019002:exon5:c.G1166A:p.S389N RS3770657 Hip bone mineral density (BMD):Major depressive disorder:Total cholesterol:Serum ratio of (levulinate (4-oxovalerate))/(tetradecanedioate):Serum ratio of (2-tetradecenoyl carnitine)/(homocitrulline):Maternal transmission distortion:Transmission distortion
2 67632125 2 ETAA1 C T exonic nonsynonymous SNV ETAA1:NM_019002:exon5:c.C2311T:p.P771S RS3770655 Hip bone mineral density (BMD):Simpson-Angus Scale:Total cholesterol:Serum ratio of (2-tetradecenoyl carnitine)/(homocitrulline)
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 68415767 1 PPP3R1 G A exonic synonymous SNV PPP3R1:NM_000945:exon3:c.C99T:p.D33D RS687 HDL cholesterol:Total cholesterol:LDL cholesterol:Height:Microalbuminuria:Comorbid depressive syndrome and alcohol dependence:Aortic valve calcium:Birth weight:College completion
2 69659126 2 NFU1 A T exonic startloss NFU1:NM_001002755:exon2:c.T74A:p.M25K,NFU1:NM_015700:exon2:c.T2A:p.M1? RS4453725 Fasting blood glucose:Methylation levels at chr2:69468399-69468449 [hg18 coord, probe cg25195673] in Temporal cortex:Advanced age-related macular degeneration:Obesity with early age of onset (age >2):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Adiponectin levels
2 69741854 2 AAK1 T G exonic nonsynonymous SNV AAK1:NM_014911:exon13:c.A1525C:p.K509Q
2 70524577 2 FAM136A G A exonic synonymous SNV FAM136A:NM_001329752:exon3:c.C582T:p.N194N,FAM136A:NM_001329753:exon3:c.C516T:p.N172N,FAM136A:NM_001329755:exon3:c.C168T:p.N56N,FAM136A:NM_032822:exon3:c.C261T:p.N87N,FAM136A:NM_001329757:exon4:c.C168T:p.N56N,FAM136A:NM_001329758:exon4:c.C168T:p.N56N
2 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 71654175 1 ZNF638 G A exonic nonsynonymous SNV ZNF638:NM_001014972:exon24:c.G5176A:p.V1726M,ZNF638:NM_001252612:exon24:c.G5176A:p.V1726M,ZNF638:NM_001252613:exon24:c.G5176A:p.V1726M,ZNF638:NM_014497:exon24:c.G5176A:p.V1726M RS1804020 Major depressive disorder (broad definition) (males):Major depressive disorder (broad definition):2 hour glucose:Fasting blood glucose:Total cholesterol:Height:Urinary albumin-to-creatinine ratio:Bipolar disorder:College completion
2 71654450 1 ZNF638 A G exonic synonymous SNV ZNF638:NM_001014972:exon24:c.A5451G:p.K1817K,ZNF638:NM_001252612:exon24:c.A5451G:p.K1817K,ZNF638:NM_001252613:exon24:c.A5451G:p.K1817K,ZNF638:NM_014497:exon24:c.A5451G:p.K1817K
2 71658541 1 ZNF638 C T exonic nonsynonymous SNV ZNF638:NM_001014972:exon26:c.C5735T:p.A1912V,ZNF638:NM_001252612:exon26:c.C5735T:p.A1912V,ZNF638:NM_001252613:exon26:c.C5735T:p.A1912V,ZNF638:NM_014497:exon26:c.C5735T:p.A1912V RS11542286 Sporadic Creutzfeldt-Jakob disease:Resistance to kuru in aged women despite likely exposure:Hypertension (early onset hypertension)
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 73491514 1 FBXO41 C T exonic synonymous SNV FBXO41:NM_001080410:exon5:c.G1698A:p.T566T
2 73679280 1 ALMS1 A G exonic nonsynonymous SNV ALMS1:NM_015120:exon8:c.A5623G:p.I1875V RS6546838 Rheumatoid arthritis:Fasting blood glucose:Cystatin C in serum:Serum creatinine:Height:Waist hip ratio:Microalbuminuria:Gene expression of ALMS1 in blood:Gene expression of [probe 6560398 centered at chr2:73781171] in blood:Serum ratio of (creatinine)/(N-acetylornithine):Diastolic blood pressure (DBP):N-ACu concentration
2 73828538 1 ALMS1 G A exonic nonsynonymous SNV ALMS1:NM_015120:exon19:c.G12086A:p.R4029K RS1052161 Irritible bowel syndrome:Gene expression of TPRKB [probe ILMN_16838] in osteoblasts:Cystatin C in serum:Serum creatinine:Lp-PLA2 mass:Gene expression of TPRKB in peripheral blood monocytes:Gene expression of ALMS1 in peripheral blood monocytes:Height:Gene expression of [probe 6560398 centered at chr2:73781171] in blood:Gene expression of ALMS1 in blood:Serum ratio of (myo-inositol)/(N-acetylornithine):Serum concentration of N-acetylornithine:N-ACu concentration:Variant Creutzfeldt-Jakob disease:Coronary artery disease (CAD)
2 73829372 1 ALMS1 C T exonic synonymous SNV ALMS1:NM_015120:exon20:c.C12172T:p.L4058L RS1052162 Fasting blood glucose:Cystatin C in serum:Serum creatinine:Gene expression of TPRKB in peripheral blood monocytes:Gene expression of ALMS1 in peripheral blood monocytes:Height:Waist hip ratio:Microalbuminuria:Carnitine:Hypoxanthine:Serum ratio of (myo-inositol)/(N-acetylornithine):Diastolic blood pressure (DBP):N-ACu concentration:Salmonella-induced pyroptosis
2 73868328 1 NAT8 A G exonic nonsynonymous SNV NAT8:NM_003960:exon2:c.T428C:p.F143S RS13538 Fasting blood glucose:Cystatin C in serum:Serum creatinine:Serum cystatin c estimated glomerular filtration rate (eGFR):Serum creatinine estimated glomerular filtration rate (eGFR):Chronic kidney disease:Serum creatinine estimated glomerular filtration rate (eGFR) (with hypertension):Serum creatinine estimated glomerular filtration rate (eGFR) (no hypertension):Serum creatinine estimated glomerular filtration rate (eGFR) (no diabetes):Waist hip ratio:Microalbuminuria:Serum concentration of N-acetylornithine:N-ACu concentration:Chronic kidney disease (severe):Serum creatinine estimated glomerular filtration rate (eGFR):Gene expression of ALMS1 (probeID ILMN_1709474) in cerebellum in Alzheimer's disease cases:Plasma beta-trace protein levels:Serum creatinine estimated glomerular filtration rate (eGFR) without hypertension:Serum creatinine estimated glomerular filtration rate (eGFR) (males):Serum cystatin c estimated glomerular filtration rate (eGFR):Serum creatinine estimated glomerular filtration rate (eGFR) age <65:miR-933 miRNA expression in lymphoblastoid cell lines :Serum creatinine estimated glomerular filtration rate (eGFR) with hypertension:Serum creatinine estimated glomerular filtration rate (eGFR) (females):Plasma Beta-2 microglobulin levels:Serum creatinine estimated glomerular filtration rate (eGFR) without diabetes:Gene expression of ALMS1 (probeID ILMN_1709474) in cerebellum in Alzheimer's disease cases and controls:Serum creatinine estimated glomerular filtration rate (eGFR) age >65
2 73957124 1 TPRKB A G exonic synonymous SNV TPRKB:NM_001330389:exon5:c.T474C:p.I158I,TPRKB:NM_001330391:exon5:c.T375C:p.I125I,TPRKB:NM_001330392:exon5:c.T375C:p.I125I,TPRKB:NM_016058:exon5:c.T474C:p.I158I,TPRKB:NM_001330386:exon6:c.T591C:p.I197I,TPRKB:NM_001330387:exon6:c.T591C:p.I197I,TPRKB:NM_001330388:exon6:c.T474C:p.I158I,TPRKB:NM_001330390:exon6:c.T420C:p.I140I RS7210 Gene expression of TPRKB [probe ILMN_16838] in osteoblasts:Alzheimer's disease:Serum creatinine:Chronic kidney disease:Cystatin C in serum:Serum concentration of N-acetylornithine:N-ACu concentration:Variant Creutzfeldt-Jakob disease
2 74007136 1 DUSP11 T C exonic nonsynonymous SNV DUSP11:NM_003584:exon1:c.A107G:p.D36G RS2272051 Gene expression of TPRKB [probe ILMN_16838] in osteoblasts:Alzheimer's disease:Cystatin C in serum:Chronic kidney disease:Serum creatinine:Gene expression of TPRKB [probe ILMN_16838] in osteoblasts treated with PGE2:Serum dehydroepiandrosterone sulphate (DHEAS):Gene expression of [probe 6560398 centered at chr2:73781171] in blood:Gene expression of DGUOK in blood:Serum concentration of N-acetylornithine:N-ACu concentration:Age at death with kuru exposure:Variant Creutzfeldt-Jakob disease
2 74154041 1 DGUOK G T exonic nonsynonymous SNV DGUOK:NM_001318859:exon1:c.G4T:p.A2S,DGUOK:NM_080916:exon1:c.G4T:p.A2S,DGUOK:NM_080918:exon1:c.G4T:p.A2S
2 74720157 1 TTC31 C T exonic stopgain TTC31:NM_022492:exon13:c.C1372T:p.R458X
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 75099477 2 HK2 A T exonic nonsynonymous SNV HK2:NM_000189:exon4:c.A426T:p.Q142H RS2229621 Parkinson's disease
2 75101454 2 HK2 T C exonic synonymous SNV HK2:NM_000189:exon7:c.T753C:p.D251D RS2229622 Cystatin C in serum
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 75185856 2 POLE4 G T exonic nonsynonymous SNV POLE4:NM_019896:exon1:c.G50T:p.G17V
2 75907351 1 GCFC2 T C exonic nonsynonymous SNV GCFC2:NM_001201334:exon12:c.A1273G:p.T425A,GCFC2:NM_003203:exon12:c.A1780G:p.T594A RS6722682 Hip bone mineral density (BMD):Rheumatoid arthritis:Arthritis including non-Rheumatoid:Total cholesterol change with statins
2 75915035 1 GCFC2 C T exonic synonymous SNV GCFC2:NM_001201334:exon11:c.G1101A:p.V367V,GCFC2:NM_003203:exon11:c.G1608A:p.V536V RS1803196 Total cholesterol change with statins:LDL cholesterol change with statins:Height:Gene expression of MRPL19 in normal prepouch ileum:Infant head circumference
2 75923413 1 GCFC2 T C exonic nonsynonymous SNV GCFC2:NM_001201334:exon5:c.A239G:p.N80S,GCFC2:NM_003203:exon5:c.A746G:p.N249S RS7560262 Total cholesterol change with statins:LDL cholesterol change with statins:Chronic kidney disease:Late onset Alzheimer's disease:Variant Creutzfeldt-Jakob disease:Gene expression of MRPL19 in normal prepouch ileum:Infant head circumference
2 75937801 1 GCFC2 C T exonic nonsynonymous SNV GCFC2:NM_001201335:exon1:c.G181A:p.V61I,GCFC2:NM_003203:exon1:c.G181A:p.V61I
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 85622059 2 CAPG T C exonic nonsynonymous SNV CAPG:NM_001320734:exon9:c.A911G:p.H304R,CAPG:NM_001256139:exon10:c.A1004G:p.H335R,CAPG:NM_001256140:exon10:c.A959G:p.H320R,CAPG:NM_001320732:exon10:c.A1004G:p.H335R,CAPG:NM_001320733:exon10:c.A1004G:p.H335R,CAPG:NM_001747:exon10:c.A1004G:p.H335R RS6886 Total cholesterol:LDL cholesterol:Gene expression of CAPG in normal prepouch ileum:Adiponectin levels
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 85818886 1 VAMP5 C T exonic synonymous SNV VAMP5:NM_006634:exon2:c.C42T:p.N14N RS14976 Gene expression of VAMP5 [probe 204929_s_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Arthritis including non-Rheumatoid:Gene expression of VAMP5 in CD4+ lymphocytes:Height:Body mass index (BMI):Late onset Alzheimer's disease:Gene expression of VAMP8 in blood:Gene expression of RNF181 in blood:Gene expression of USP39 in blood:Gene expression of VAMP5 in blood:Serum ratio of (2-linoleoylglycerophosphoethanolamine*)/(tetradecanedioate):Serum ratio of (glycodeoxycholate)/(valerate):Obesity with early age of onset (age >2):Gene expression of VAMP8 in normal prepouch ileum:Adiponectin levels
2 85824039 1 RNF181 G A exonic synonymous SNV RNF181:NM_016494:exon3:c.G312A:p.L104L
2 85826721 1 TMEM150A G A exonic synonymous SNV TMEM150A:NM_001031738:exon7:c.C501T:p.T167T RS11891495 HOMA-B:Height:Adiponectin levels
2 86259443 1 POLR1A C T exonic synonymous SNV POLR1A:NM_015425:exon29:c.G4224A:p.G1408G
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 86371883 1 IMMT T C exonic synonymous SNV IMMT:NM_001100169:exon15:c.A1782G:p.A594A,IMMT:NM_001100170:exon15:c.A1752G:p.A584A,IMMT:NM_006839:exon15:c.A1785G:p.A595A RS8244 Gene expression of IMMT in CEU lymphoblastoid cell lines:Gene expression of probe 239366_at in lymphoblastoid cell lines:Gene expression of IMMT [probe 200955_at] in lymphoblastoid cell lines:HDL cholesterol:HOMA-IR:Fasting insulin:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Advanced age-related macular degeneration (geographic atrophy):Adiponectin levels:Advanced age-related macular degeneration
2 86400824 1 IMMT G A exonic nonsynonymous SNV IMMT:NM_001100169:exon4:c.C370T:p.P124S,IMMT:NM_001100170:exon4:c.C370T:p.P124S,IMMT:NM_006839:exon4:c.C370T:p.P124S RS1050301 Schizophrenia:Obesity with early age of onset (age >2)
2 86683642 1 KDM3A A G exonic nonsynonymous SNV KDM3A:NM_001146688:exon6:c.A634G:p.I212V,KDM3A:NM_018433:exon6:c.A634G:p.I212V RS2030259 Spine bone mineral density (BMD):Irritible bowel syndrome:Neuroticism:Differential exon level expression of JMJD1A [probe 2492088] in peripheral blood mononuclear cells:Differential exon level expression of JMJD1A [probe 2492088] in brain cortex:Fasting blood glucose:Height:Body mass index (BMI):Gene expression of VPS24 [probe ILMN_15069] in osteoblasts treated with PGE2:Microalbuminuria:Serum ratio of (hexanoylcarnitine)/(sebacate (decanedioate)):Serum concentration of isobutyrylcarnitine:Epilepsy:PROP taste detection threshold:Bipolar disorder
2 86691250 1 KDM3A G A exonic synonymous SNV KDM3A:NM_001146688:exon9:c.G918A:p.A306A,KDM3A:NM_018433:exon9:c.G918A:p.A306A
2 88424066 1 FABP1 T C exonic nonsynonymous SNV FABP1:NM_001443:exon3:c.A280G:p.T94A RS2241883 Gene expression of TIGD2 in liver:Gene expression of FABP1 in liver:Gene expression of ARHGAP5 in liver:Tardive dyskinesia:Triglycerides change with statins:Lp-PLA2 activity:Microalbuminuria:Gene expression of THNSL2 in blood:Serum ratio of (2-linoleoylglycerophosphocholine*)/(inosine):Serum concentration of 3-methylhistidine:Systolic blood pressure (SBP):Variant Creutzfeldt-Jakob disease:Parkinson's disease:Prostate cancer
2 88425811 1 FABP1 C T exonic nonsynonymous SNV FABP1:NM_001443:exon2:c.G124A:p.V42M
2 88874891 1 EIF2AK3 C A exonic nonsynonymous SNV EIF2AK3:NM_001313915:exon13:c.G1657T:p.A553S,EIF2AK3:NM_004836:exon13:c.G2110T:p.A704S RS1805165 Height:PROP taste detection threshold:Refractive error
2 88895123 1 EIF2AK3 T C exonic nonsynonymous SNV EIF2AK3:NM_001313915:exon3:c.A44G:p.Q15R,EIF2AK3:NM_004836:exon3:c.A497G:p.Q166R RS13045 Height:Gene expression of RPIA [transcript NM_144563, probe A_23_P131646] in liver:Bipolar disorder:Refractive error
2 95847518 1 ZNF2 G A exonic synonymous SNV ZNF2:NM_001291604:exon3:c.G705A:p.E235E,ZNF2:NM_001017396:exon4:c.G819A:p.E273E,ZNF2:NM_001282398:exon4:c.G831A:p.E277E,ZNF2:NM_001291605:exon5:c.G984A:p.E328E,ZNF2:NM_021088:exon5:c.G945A:p.E315E
2 96944553 1 SNRNP200 G A exonic synonymous SNV SNRNP200:NM_014014:exon37:c.C5317T:p.L1773L RS772175 Irritible bowel syndrome:Rheumatoid arthritis:HDL cholesterol change with statins:Cystatin C in serum:Neuroblastoma (brain cancer):Gene expression of ITPRIPL1 in blood:Gene expression of AC092603.3 in blood:Serum ratio of (glutamate)/(lathosterol):Diastolic blood pressure (DBP):Bipolar disorder
2 96952833 1 SNRNP200 A G exonic synonymous SNV SNRNP200:NM_014014:exon27:c.T3550C:p.L1184L RS3171927 Gene expression of CIAO1 in CEU-CHB-JPT lymphoblastoid cell lines:Partial epilepsy:Gene expression of AC092603.3 in blood:Gene expression of WDR39 in blood:Gene expression of CIAO1 [probeset 203536_s_at] in sputum:Comorbid depressive syndrome and alcohol dependence:Gene expression of LOC652147 (ENSG00000144028) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of STARD7 (ENSG00000084090) in dendritic cells treated with Mycobacterium tuberculosis:Birth weight
2 96993757 1 ITPRIPL1 C T exonic nonsynonymous SNV ITPRIPL1:NM_178495:exon1:c.C1412T:p.T471M,ITPRIPL1:NM_001163523:exon2:c.C1364T:p.T455M,ITPRIPL1:NM_001163524:exon2:c.C1364T:p.T455M,ITPRIPL1:NM_001324490:exon2:c.C1364T:p.T455M,ITPRIPL1:NM_001008949:exon3:c.C1388T:p.T463M RS2279105 Gene expression of CIAO1 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Schizophrenia:Alzheimer's disease:Partial epilepsy:Gene expression of ARID5A in blood:Gene expression of WDR39 in blood:Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease:Birth weight
2 96993884 1 ITPRIPL1 A G exonic synonymous SNV ITPRIPL1:NM_178495:exon1:c.A1539G:p.P513P,ITPRIPL1:NM_001163523:exon2:c.A1491G:p.P497P,ITPRIPL1:NM_001163524:exon2:c.A1491G:p.P497P,ITPRIPL1:NM_001324490:exon2:c.A1491G:p.P497P,ITPRIPL1:NM_001008949:exon3:c.A1515G:p.P505P RS1048675 Gene expression of CIAO1 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Birth weight
2 97020049 1 NCAPH T C exonic synonymous SNV NCAPH:NM_001281712:exon8:c.T723C:p.D241D,NCAPH:NM_001281710:exon9:c.T1098C:p.D366D,NCAPH:NM_001281711:exon9:c.T1059C:p.D353D,NCAPH:NM_015341:exon9:c.T1131C:p.D377D RS3731935 Hypertension:Gene expression of CIAO1 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of WDR39 in liver:Childhood acute lymphoblastic leukemia:Serum ratio of (hippurate)/(tiglyl carnitine):Birth weight
2 97030247 1 NCAPH T C exonic nonsynonymous SNV NCAPH:NM_001281712:exon12:c.T1208C:p.V403A,NCAPH:NM_001281710:exon13:c.T1583C:p.V528A,NCAPH:NM_001281711:exon13:c.T1544C:p.V515A,NCAPH:NM_015341:exon13:c.T1616C:p.V539A RS2305935 Gene expression of CIAO1 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Schizophrenia:Alzheimer's disease:Partial epilepsy:Gene expression of WDR39 in blood:Gene expression of ARID5A in blood:Comorbid depressive syndrome and alcohol dependence:Birth weight
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 98274527 2 ACTR1B G C exonic synonymous SNV ACTR1B:NM_005735:exon8:c.C804G:p.V268V RS1042705 Fasting blood glucose:Rheumatoid arthritis:Gene expression of ACTR1B in peripheral blood monocytes:Urinary albumin-to-creatinine ratio:Microalbuminuria:Birth weight
2 98277090 1 ACTR1B T C exonic nonsynonymous SNV ACTR1B:NM_005735:exon3:c.A133G:p.M45V
2 98427633 1 TMEM131 C T exonic synonymous SNV TMEM131:NM_015348:exon18:c.G1926A:p.E642E
2 99149946 1 INPP4A G A exonic synonymous SNV INPP4A:NM_001134224:exon5:c.G258A:p.T86T,INPP4A:NM_001134225:exon5:c.G258A:p.T86T,INPP4A:NM_001351424:exon5:c.G258A:p.T86T,INPP4A:NM_001351425:exon5:c.G258A:p.T86T,INPP4A:NM_001351426:exon5:c.G258A:p.T86T,INPP4A:NM_001351427:exon5:c.G258A:p.T86T,INPP4A:NM_001351428:exon5:c.G258A:p.T86T,INPP4A:NM_001351429:exon5:c.G258A:p.T86T,INPP4A:NM_001566:exon5:c.G258A:p.T86T,INPP4A:NM_004027:exon5:c.G258A:p.T86T RS2278211 Triglycerides:Bipolar disorder:Obesity with early age of onset (age >2):Adiponectin levels
2 99778735 1 LIPT1 A G exonic synonymous SNV LIPT1:NM_145199:exon2:c.A315G:p.T105T,LIPT1:NM_001204830:exon3:c.A315G:p.T105T,LIPT1:NM_015929:exon3:c.A315G:p.T105T,LIPT1:NM_145197:exon4:c.A315G:p.T105T,LIPT1:NM_145198:exon4:c.A315G:p.T105T RS3791211 Triglycerides change with statins:Waist hip ratio:Parkinson's disease
2 99778985 2 LIPT1 T C exonic synonymous SNV LIPT1:NM_145199:exon2:c.T565C:p.L189L,LIPT1:NM_001204830:exon3:c.T565C:p.L189L,LIPT1:NM_015929:exon3:c.T565C:p.L189L,LIPT1:NM_145197:exon4:c.T565C:p.L189L,LIPT1:NM_145198:exon4:c.T565C:p.L189L RS2632277 Type 1 diabetes, gender differentiated:Gene expression of TSGA10 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of TSGA10 [probe 220623_s_at] in lymphoblastoid cell lines:Childhood acute lymphoblastic leukemia:HDL cholesterol:Methylation levels at chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Frontal cortex:Methylation levels at chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Caudal pons:Methylation levels at chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Temporal cortex:Gene expression of TSGA10 in peripheral blood monocytes:Gene expression of MRPL30 in peripheral blood monocytes:Gene expression of REV1 in peripheral blood monocytes:Gene expression of MITD1 in peripheral blood monocytes:Gene expression of LIPT1 in peripheral blood monocytes:Serum ratio of (linolenate [alpha or gamma; (18:3n3 or 6)])/(riboflavin (Vitamin B2)):Gene expression of TSGA10 (probeID ILMN_1674645) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of LIPT1 (probeID ILMN_2343105) in cerebellum in Alzheimer's disease cases and controls:Gene expression of TSGA10 (probeID ILMN_1680430) in cerebellum in Alzheimer's disease cases and controls:Infant head circumference:Gene expression of TSGA10 (probeID ILMN_1680430) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TSGA10 (probeID ILMN_1674645) in cerebellum in Alzheimer's disease cases and controls:Gene expression of LIPT1 (probeID ILMN_2343105) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of LIPT1 in normal prepouch ileum
2 99779131 1 LIPT1 T C exonic synonymous SNV LIPT1:NM_145199:exon2:c.T711C:p.A237A,LIPT1:NM_001204830:exon3:c.T711C:p.A237A,LIPT1:NM_015929:exon3:c.T711C:p.A237A,LIPT1:NM_145197:exon4:c.T711C:p.A237A,LIPT1:NM_145198:exon4:c.T711C:p.A237A RS2516835 Gene expression of TSGA10 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of TSGA10 in liver:Differential exon level expression of TSGA10 [probe 2566605] in peripheral blood mononuclear cells:Gene expression of LIPT1 [probe 2495782] in brain cortex:Differential exon level expression of TSGA10 [probe 2566619] in peripheral blood mononuclear cells:Gene expression of TSGA10 [probe 2566586] in peripheral blood mononuclear cells:Differential exon level expression of TSGA10 [probe 2566619] in brain cortex:Gene expression of LIPT1 [probe 2495782] in peripheral blood mononuclear cells:Differential exon level expression of TSGA10 [probeset 2566605] in brain cortex:Gene expression of TSGA10 in Lymphoblastoid cell lines:Gene expression of LIPT1 [probe ILMN_1674645] in peripheral leukocytes:HDL cholesterol:Methylation levels at chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Frontal cortex:Methylation levels at chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Temporal cortex:Methylation levels at chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Caudal pons:Gene expression of TSGA10 in CD4+ lymphocytes:Gene expression of C2orf15 in CD4+ lymphocytes:Gene expression of MRPL30 [probe ILMN_22645] in untreated osteoblasts:Gene expression of LIPT1 [probe ILMN_5728] in osteoblasts treated with PGE2:Gene expression of LOC129531 [probe ILMN_27516] in osteoblasts treated with BMP2:Serum concentration of histidine:Gene expression of TSGA10 (probeID ILMN_1680430) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of LIPT1 (probeID ILMN_2343105) in cerebellum in Alzheimer's disease cases and controls:Gene expression of TSGA10 (probeID ILMN_1680430) in cerebellum in Alzheimer's disease cases and controls:Gene expression of LIPT1 (probeID ILMN_2343105) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TSGA10 (probeID ILMN_1674645) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TSGA10 (probeID ILMN_1674645) in cerebellum in Alzheimer's disease cases and controls:Gene expression of LIPT1 in normal prepouch ileum:Infant head circumference
2 99992822 1 EIF5B A C exonic nonsynonymous SNV EIF5B:NM_015904:exon10:c.A1565C:p.K522T RS7558074 Methylation levels at chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Caudal pons:PROP taste detection threshold
2 99995517 1 EIF5B C T exonic synonymous SNV EIF5B:NM_015904:exon11:c.C1878T:p.T626T RS11896520 LDL cholesterol:PROP taste detection threshold:College completion:Gene expression of LYG1 in normal prepouch ileum
2 99995804 1 EIF5B T C exonic synonymous SNV EIF5B:NM_015904:exon12:c.T1974C:p.D658D RS1376443 Methylation levels at chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Caudal pons
2 100019496 1 REV1 A G exonic synonymous SNV REV1:NM_001037872:exon20:c.T3237C:p.I1079I,REV1:NM_016316:exon20:c.T3240C:p.I1080I,REV1:NM_001321454:exon21:c.T3348C:p.I1116I,REV1:NM_001321455:exon21:c.T3027C:p.I1009I,REV1:NM_001321458:exon21:c.T1770C:p.I590I,REV1:NM_001321459:exon21:c.T1671C:p.I557I,REV1:NM_001321460:exon21:c.T1671C:p.I557I RS2305354 Methylation levels at chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Caudal pons
2 100055506 1 REV1 A G exonic nonsynonymous SNV REV1:NM_001037872:exon6:c.T770C:p.F257S,REV1:NM_001321454:exon6:c.T770C:p.F257S,REV1:NM_016316:exon6:c.T770C:p.F257S,REV1:NM_001321455:exon7:c.T560C:p.F187S RS3087386 Methylation levels at chr2:99125838-99125888 [hg18 coord, probe cg09298484] in Caudal pons:LDL cholesterol:Gene expression of REV1L [probe ILMN_139004] in osteoblasts treated with PGE2:PROP taste detection threshold:Bipolar disorder:Major depressive disorder and bipolar disorder combined analysis
2 100058870 1 REV1 C T exonic nonsynonymous SNV REV1:NM_001037872:exon5:c.G412A:p.V138M,REV1:NM_001321454:exon5:c.G412A:p.V138M,REV1:NM_016316:exon5:c.G412A:p.V138M,REV1:NM_001321455:exon6:c.G202A:p.V68M RS3087403 LDL cholesterol:Schizophrenia:Gene expression of REV1 in peripheral blood monocytes:Gene expression of TSGA10 in peripheral blood monocytes:Gene expression of MITD1 in peripheral blood monocytes:Gene expression of LIPT1 in peripheral blood monocytes:Gene expression of LYG1 in peripheral blood monocytes:Waist hip ratio:Late onset Alzheimer's disease:Gene expression of REV1///EIF5B in blood:Gene expression of LYG1 in blood:PROP taste detection threshold:Gene expression of LYG1 in normal prepouch ileum:College completion
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 101186088 1 PDCL3 C T exonic synonymous SNV PDCL3:NM_024065:exon4:c.C273T:p.F91F RS1052117 HDL cholesterol change with statins
2 101591304 2 NPAS2 A G exonic nonsynonymous SNV NPAS2:NM_002518:exon13:c.A1180G:p.T394A RS2305160 Irritible bowel syndrome:Prostate cancer
2 101607291 1 NPAS2 G A exonic nonsynonymous SNV NPAS2:NM_002518:exon19:c.G2068A:p.A690T
2 101609827 1 NPAS2 C T exonic synonymous SNV NPAS2:NM_002518:exon20:c.C2130T:p.T710T RS9223 LDL cholesterol:Total cholesterol: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 101644855 1 TBC1D8 G A exonic synonymous SNV TBC1D8:NM_001102426:exon13:c.C2217T:p.P739P,TBC1D8:NM_001330348:exon13:c.C2262T:p.P754P RS11683877 LDL cholesterol:Gene expression change of RPL31 (ENSG00000071082) in dendritic cells after treatment with Mycobacterium tuberculosis:College completion
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 101666919 1 TBC1D8 A T exonic nonsynonymous SNV TBC1D8:NM_001102426:exon5:c.T771A:p.D257E,TBC1D8:NM_001330348:exon5:c.T816A:p.D272E
2 101898412 1 RNF149 G C exonic nonsynonymous SNV RNF149:NM_173647:exon6:c.C1068G:p.D356E RS13151 Refractive error
2 101925026 2 RNF149 T C exonic nonsynonymous SNV RNF149:NM_173647:exon1:c.A25G:p.S9G
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 102481428 1 MAP4K4 T A exonic nonsynonymous SNV MAP4K4:NM_004834:exon16:c.T1648A:p.S550T,MAP4K4:NM_001242559:exon17:c.T1903A:p.S635T,MAP4K4:NM_001242560:exon17:c.T1879A:p.S627T,MAP4K4:NM_145686:exon17:c.T1810A:p.S604T,MAP4K4:NM_145687:exon17:c.T1810A:p.S604T
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 105885961 1 TGFBRAP1 T C exonic nonsynonymous SNV TGFBRAP1:NM_001142621:exon11:c.A2174G:p.H725R,TGFBRAP1:NM_001328646:exon11:c.A2174G:p.H725R,TGFBRAP1:NM_004257:exon11:c.A2174G:p.H725R RS2241797 Triglycerides:Fasting insulin:HOMA-B:HOMA-IR:Partial epilepsy:Serum ratio of (1-methylxanthine)/(gamma-tocopherol)
2 109099572 2 GCC2 C G exonic nonsynonymous SNV GCC2:NM_181453:exon12:c.C3400G:p.Q1134E
2 109106381 1 GCC2 A G exonic synonymous SNV GCC2:NM_181453:exon18:c.A4140G:p.Q1380Q RS12104502 HDL cholesterol:Methylation levels at chr2:108431746-108431796 [hg18 coord, probe cg12433691] in Temporal cortex
2 109389463 2 RANBP2 G A exonic synonymous SNV RANBP2:NM_006267:exon23:c.G8253A:p.E2751E
2 109429146 2 CCDC138 T A exonic synonymous SNV CCDC138:NM_001351545:exon7:c.T900A:p.A300A,CCDC138:NM_001351548:exon7:c.T789A:p.A263A,CCDC138:NM_001351557:exon7:c.T900A:p.A300A,CCDC138:NM_001351561:exon7:c.T900A:p.A300A,CCDC138:NM_001303105:exon8:c.T915A:p.A305A,CCDC138:NM_001351544:exon8:c.T933A:p.A311A,CCDC138:NM_001351549:exon8:c.T915A:p.A305A,CCDC138:NM_001351551:exon8:c.T912A:p.A304A,CCDC138:NM_001351553:exon8:c.T933A:p.A311A,CCDC138:NM_001351554:exon8:c.T930A:p.A310A,CCDC138:NM_001351555:exon8:c.T912A:p.A304A,CCDC138:NM_001351559:exon8:c.T915A:p.A305A,CCDC138:NM_144978:exon8:c.T915A:p.A305A
2 110372192 2 SOWAHC A G exonic synonymous SNV SOWAHC:NM_023016:exon1:c.A126G:p.L42L
2 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 112592265 1 ANAPC1 T C exonic nonsynonymous SNV ANAPC1:NM_022662:exon19:c.A2300G:p.H767R
2 112751928 1 MERTK G A exonic nonsynonymous SNV MERTK:NM_006343:exon9:c.G1397A:p.R466K RS7604639 HOMA-B:Fasting insulin:HOMA-IR:Rheumatoid arthritis:Partial epilepsy:Late onset Alzheimer's disease:Resistance to kuru in aged women despite likely exposure:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
2 113089267 2 ZC3H6 T C exonic synonymous SNV ZC3H6:NM_198581:exon12:c.T2772C:p.N924N RS7601200 Simpson-Angus Scale:Major depressive disorder (broad definition):Major depressive disorder (broad definition) (females):Major depressive disorder (broad definition) (males):HOMA-B:Fasting insulin:Gene expression of IL27RA in peripheral blood monocytes:Total cholesterol:Diabetic nephropathy in type 2 diabetes mellitus - end stage renal disease:Serum ratio of (biliverdin)/(glycochenodeoxycholate):Resistance to kuru in aged women despite likely exposure:College completion:General white matter integrity factor:Years of education:Tetrology of fallot:Birth weight
2 113277949 1 TTL T C exonic synonymous SNV TTL:NM_153712:exon6:c.T966C:p.D322D
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 113404708 2 SLC20A1 G A exonic synonymous SNV SLC20A1:NM_005415:exon2:c.G303A:p.L101L RS4849091 Major depressive disorder (narrow definition) (males):Total cholesterol change with statins:LDL cholesterol:Rheumatoid arthritis
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 113890304 1 IL1RN T C exonic synonymous SNV IL1RN:NM_173842:exon4:c.T390C:p.S130S,IL1RN:NM_000577:exon5:c.T336C:p.S112S,IL1RN:NM_173841:exon6:c.T399C:p.S133S,IL1RN:NM_173843:exon6:c.T288C:p.S96S,IL1RN:NM_001318914:exon7:c.T288C:p.S96S RS315952 IL1B:Schizophrenia:Barnes Akathisia Rating Scale:Total cholesterol:Partial epilepsy:Triglycerides:Asthma:Age at death with kuru exposure:Amyotrophic lateral sclerosis (ALS):Birth weight:Acute respiratory distress syndrome:Diabetic retinopathy in Type 2 diabetes mellitus
2 118583100 1 DDX18 G A exonic synonymous SNV DDX18:NM_006773:exon10:c.G1446A:p.T482T RS1052639 Chronic kidney disease:Gene expression of GPR146 in peripheral blood monocytes:HDL cholesterol:Total cholesterol:LDL cholesterol:Serum ratio of (1-methylxanthine)/(4-ethylphenylsulfate):Birth weight:College completion:Years of education
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 118603844 2
2 118771566 1 CCDC93 C A exonic synonymous SNV CCDC93:NM_019044:exon1:c.G6T:p.G2G
2 120060082 2 C2orf76 T C exonic nonsynonymous SNV C2orf76:NM_001322332:exon5:c.A296G:p.K99R,C2orf76:NM_001322330:exon6:c.A347G:p.K116R,C2orf76:NM_001322331:exon6:c.A347G:p.K116R,C2orf76:NM_001017927:exon7:c.A347G:p.K116R,C2orf76:NM_001322329:exon7:c.A347G:p.K116R RS1052500 LDL cholesterol change with statins:Total cholesterol change with statins:Microalbuminuria:Gene expression of STEAP3 in blood:Hypertension (early onset hypertension):Birth weight:Advanced age-related macular degeneration (geographic atrophy)
2 120438515 1 TMEM177 G C exonic nonsynonymous SNV TMEM177:NM_001105198:exon2:c.G86C:p.G29A,TMEM177:NM_001105199:exon2:c.G86C:p.G29A,TMEM177:NM_030577:exon2:c.G86C:p.G29A
2 120438523 1 TMEM177 A G exonic nonsynonymous SNV TMEM177:NM_001105198:exon2:c.A94G:p.I32V,TMEM177:NM_001105199:exon2:c.A94G:p.I32V,TMEM177:NM_030577:exon2:c.A94G:p.I32V
2 120438696 2 TMEM177 A G exonic synonymous SNV TMEM177:NM_001105198:exon2:c.A267G:p.Q89Q,TMEM177:NM_001105199:exon2:c.A267G:p.Q89Q,TMEM177:NM_030577:exon2:c.A267G:p.Q89Q
2 120439230 1 TMEM177 C G exonic nonsynonymous SNV TMEM177:NM_001105198:exon2:c.C801G:p.D267E,TMEM177:NM_001105199:exon2:c.C801G:p.D267E,TMEM177:NM_030577:exon2:c.C801G:p.D267E RS1983406 2 hour glucose:Gene expression of TMEM177 [transcript NM_030577, probe A_23_P5339] in liver:Comorbid depressive syndrome and alcohol dependence:Type 2 diabetes
2 120980428 2 TMEM185B G C exonic nonsynonymous SNV TMEM185B:NM_024121:exon1:c.C125G:p.A42G
2 122106262 1 CLASP1 T G exonic synonymous SNV CLASP1:NM_001142274:exon36:c.A4038C:p.T1346T,CLASP1:NM_001207051:exon36:c.A4056C:p.T1352T,CLASP1:NM_001142273:exon37:c.A4062C:p.T1354T,CLASP1:NM_015282:exon37:c.A4239C:p.T1413T
2 128180872 1 PROC G T exonic synonymous SNV PROC:NM_000312:exon6:c.G423T:p.S141S RS5936 Gene expression of probe 239302_s_at in lymphoblastoid cell lines:Total cholesterol:Years of education:College completion:Parkinson's disease
2 128459214 1 SFT2D3 C G exonic nonsynonymous SNV SFT2D3:NM_032740:exon1:c.C112G:p.R38G
2 128522203 1 WDR33 A T exonic stopgain WDR33:NM_001006622:exon6:c.T825A:p.Y275X
2 128707791 1 SAP130 C A exonic nonsynonymous SNV SAP130:NM_001330300:exon16:c.G2506T:p.A836S,SAP130:NM_001330303:exon16:c.G2509T:p.A837S,SAP130:NM_024545:exon16:c.G2587T:p.A863S,SAP130:NM_001145928:exon17:c.G2692T:p.A898S,SAP130:NM_001330299:exon17:c.G2611T:p.A871S,SAP130:NM_001330301:exon17:c.G2614T:p.A872S,SAP130:NM_001330302:exon17:c.G2611T:p.A871S
2 128757995 1 SAP130 A C exonic synonymous SNV SAP130:NM_001145928:exon8:c.T981G:p.S327S,SAP130:NM_001330299:exon8:c.T900G:p.S300S,SAP130:NM_001330300:exon8:c.T903G:p.S301S,SAP130:NM_001330301:exon8:c.T903G:p.S301S,SAP130:NM_001330302:exon8:c.T903G:p.S301S,SAP130:NM_001330303:exon8:c.T903G:p.S301S,SAP130:NM_024545:exon8:c.T981G:p.S327S
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 128934400 2 UGGT1 T C exonic synonymous SNV UGGT1:NM_020120:exon32:c.T3552C:p.T1184T RS2290111 Chronic kidney disease:Height:Birth weight
2 128939799 1 UGGT1 C T exonic synonymous SNV UGGT1:NM_020120:exon37:c.C4179T:p.D1393D RS17178720 Total cholesterol:LDL cholesterol:Asthma:Waist hip ratio
2 128939817 1 UGGT1 G A exonic synonymous SNV UGGT1:NM_020120:exon37:c.G4197A:p.K1399K RS1699 Gene expression of UGCGL1 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Total cholesterol:Height:Waist hip ratio:Years of education:College completion
2 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 131100734 1 IMP4 G A exonic nonsynonymous SNV IMP4:NM_001320304:exon2:c.G79A:p.E27K,IMP4:NM_001320305:exon2:c.G79A:p.E27K,IMP4:NM_033416:exon2:c.G79A:p.E27K RS11542411 Eye color:Gene expression of CCDC115 in blood:Gene expression of IMP4 in blood
2 135711516 1 CCNT2 C T exonic synonymous SNV CCNT2:NM_001241:exon9:c.C1491T:p.D497D,CCNT2:NM_058241:exon9:c.C1491T:p.D497D,CCNT2:NM_001320748:exon10:c.C1059T:p.D353D,CCNT2:NM_001320749:exon10:c.C966T:p.D322D RS3814355 HOMA-IR:Fasting insulin:Serum creatinine:Total cholesterol:LDL cholesterol:HDL cholesterol:Height:Body mass index (BMI):Systolic blood pressure (SBP):Advanced age-related macular degeneration (geographic atrophy):Parkinson's disease:Gene expression of LCT in normal prepouch ileum
2 135893372 2 RAB3GAP1 A G exonic nonsynonymous SNV RAB3GAP1:NM_001172435:exon17:c.A1793G:p.N598S,RAB3GAP1:NM_012233:exon17:c.A1793G:p.N598S RS10445686 Irritible bowel syndrome:Arthritis including non-Rheumatoid:Premature ovarian failure:Total cholesterol:LDL cholesterol:Salmonella-induced pyroptosis:Obesity with early age of onset (age >2):Gene expression of LCT in normal prepouch ileum
2 135911422 2 RAB3GAP1 T C exonic synonymous SNV RAB3GAP1:NM_001172435:exon19:c.T2265C:p.F755F,RAB3GAP1:NM_012233:exon19:c.T2265C:p.F755F RS17261772 LDL cholesterol:Fasting insulin:Serum creatinine:Cystatin C in serum:HDL cholesterol:LDL cholesterol:Total cholesterol:Height:Body mass index (BMI):Parkinson's disease:Diabetic retinopathy in Type 2 diabetes mellitus:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
2 136511817 1 UBXN4 A G exonic synonymous SNV UBXN4:NM_014607:exon4:c.A303G:p.E101E RS1050115 Cystatin C in serum:Gene expression of SLC7A5 in peripheral blood monocytes:Gene expression of DARS in peripheral blood monocytes:Gene expression of MCM6 in peripheral blood monocytes:HDL cholesterol:Total cholesterol:LDL cholesterol:Late onset Alzheimer's disease:Tetrology of fallot:Obesity with early age of onset (age >2):Aortic valve calcium:Advanced age-related macular degeneration (geographic atrophy)
2 150432976 2 MMADHC C T exonic synonymous SNV MMADHC:NM_015702:exon5:c.G453A:p.Q151Q RS11545261 Adiponectin levels
2 152311570 2 RIF1 G A exonic nonsynonymous SNV RIF1:NM_001177665:exon21:c.G2506A:p.G836S,RIF1:NM_001177663:exon22:c.G2506A:p.G836S,RIF1:NM_001177664:exon22:c.G2506A:p.G836S,RIF1:NM_018151:exon22:c.G2506A:p.G836S RS2444263 Crohn's disease, combined control dataset, gender differentiated:Eye color:Arthritis including non-Rheumatoid:Serum creatinine:Gene expression of TNFAIP6 in blood:Serum ratio of (linoleate (18:2n6))/(oleate (18:1n9)):Serum ratio of (10-heptadecenoate (17:1n7))/(margarate (17:0)):Gene expression of RIF1 [probeset 236620_at] in sputum:Parkinson's disease:Gene expression of RIF1 in normal prepouch ileum
2 152320118 2 RIF1 G A exonic nonsynonymous SNV RIF1:NM_001177665:exon29:c.G4084A:p.V1362M,RIF1:NM_001177663:exon30:c.G4084A:p.V1362M,RIF1:NM_001177664:exon30:c.G4084A:p.V1362M,RIF1:NM_018151:exon30:c.G4084A:p.V1362M RS2123465 Eye color:Arthritis including non-Rheumatoid:Serum creatinine:Gene expression of TNFAIP6 in blood:Serum ratio of (10-heptadecenoate (17:1n7))/(margarate (17:0)):Parkinson's disease:Gene expression of RIF1 in normal prepouch ileum
2 152322095 2 RIF1 A T exonic nonsynonymous SNV RIF1:NM_001177665:exon29:c.A6061T:p.N2021Y,RIF1:NM_001177663:exon30:c.A6061T:p.N2021Y,RIF1:NM_001177664:exon30:c.A6061T:p.N2021Y,RIF1:NM_018151:exon30:c.A6061T:p.N2021Y
2 153041544 2
2 153042419 2
2 153405594 1 FMNL2 G A exonic synonymous SNV FMNL2:NM_052905:exon4:c.G342A:p.L114L RS1155779 Serum ratio of (p-cresol sulfate)/(phenylacetate)
2 158626980 2 ACVR1 C T exonic synonymous SNV ACVR1:NM_001105:exon7:c.G690A:p.E230E,ACVR1:NM_001111067:exon7:c.G690A:p.E230E,ACVR1:NM_001347663:exon7:c.G690A:p.E230E,ACVR1:NM_001347664:exon8:c.G690A:p.E230E,ACVR1:NM_001347665:exon8:c.G690A:p.E230E,ACVR1:NM_001347666:exon8:c.G690A:p.E230E,ACVR1:NM_001347667:exon8:c.G690A:p.E230E RS1146031 Polycystic ovary syndrome
2 158636910 2 ACVR1 G A exonic synonymous SNV ACVR1:NM_001105:exon4:c.C270T:p.A90A,ACVR1:NM_001111067:exon4:c.C270T:p.A90A,ACVR1:NM_001347663:exon4:c.C270T:p.A90A,ACVR1:NM_001347664:exon5:c.C270T:p.A90A,ACVR1:NM_001347665:exon5:c.C270T:p.A90A,ACVR1:NM_001347666:exon5:c.C270T:p.A90A,ACVR1:NM_001347667:exon5:c.C270T:p.A90A
2 159389762 1 PKP4 C T exonic synonymous SNV PKP4:NM_001005476:exon2:c.C66T:p.A22A,PKP4:NM_001304969:exon2:c.C66T:p.A22A,PKP4:NM_001304971:exon2:c.C66T:p.A22A,PKP4:NM_003628:exon2:c.C66T:p.A22A
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 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 160604936 1 7-Mar G A exonic nonsynonymous SNV MARCH7:NM_001282806:exon4:c.G967A:p.G323S,MARCH7:NM_001282807:exon4:c.G1021A:p.G341S,MARCH7:NM_022826:exon5:c.G1135A:p.G379S,MARCH7:NM_001282805:exon7:c.G1135A:p.G379S RS13024801 Cystatin C in serum:Serum creatinine:Systolic blood pressure (SBP):Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
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 162929979 1 DPP4 A G exonic synonymous SNV DPP4:NM_001935:exon2:c.T24C:p.L8L
2 165476253 1 GRB14 A T exonic nonsynonymous SNV GRB14:NM_004490:exon2:c.T268A:p.F90I
2 166740469 1 TTC21B A G exonic synonymous SNV TTC21B:NM_024753:exon26:c.T3519C:p.T1173T
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 170403030 2 FASTKD1 T C exonic nonsynonymous SNV FASTKD1:NM_001322048:exon7:c.A1330G:p.M444V,FASTKD1:NM_001322049:exon7:c.A1330G:p.M444V,FASTKD1:NM_001281476:exon8:c.A1399G:p.M467V,FASTKD1:NM_001322046:exon8:c.A1399G:p.M467V,FASTKD1:NM_024622:exon8:c.A1399G:p.M467V RS2253680 Celiac disease:Hip bone mineral density (BMD):Gene expression of PHOSPHO2///KLHL23 in blood:Sporadic Creutzfeldt-Jakob disease:Gene expression of PHOSPHO2 in liver:College completion
2 170411693 2 FASTKD1 T C exonic synonymous SNV FASTKD1:NM_001322048:exon6:c.A1086G:p.L362L,FASTKD1:NM_001322049:exon6:c.A1086G:p.L362L,FASTKD1:NM_001281476:exon7:c.A1155G:p.L385L,FASTKD1:NM_001322046:exon7:c.A1155G:p.L385L,FASTKD1:NM_024622:exon7:c.A1155G:p.L385L RS2683455 Years of education:College completion
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 171572940 1 SP5 G A exonic nonsynonymous SNV SP5:NM_001003845:exon2:c.G223A:p.A75T
2 171627676 2 ERICH2 T G exonic nonsynonymous SNV ERICH2:NM_001290030:exon1:c.T485G:p.L162R,ERICH2:NM_001290031:exon1:c.T485G:p.L162R
2 171822466 2 GORASP2 C T exonic synonymous SNV GORASP2:NM_001201428:exon10:c.C981T:p.S327S,GORASP2:NM_015530:exon10:c.C1185T:p.S395S RS4668356 Hip bone mineral density (BMD):Paired associates learning total errors 8 patterns:HOMA-IR:Exceptional Longevity:Body mass index (BMI):Serum ratio of (glycine)/(n-Butyl Oleate):Tourette's syndrome:Primary rhegmatogenous retinal detachment
2 172180771 2 METTL8 A G exonic unknown UNKNOWN
2 172725301 2 SLC25A12 A G exonic synonymous SNV SLC25A12:NM_003705:exon3:c.T99C:p.Y33Y RS1878583 Xylose:trans-Aconitate:Serum ratio of (arabinose)/(indolepropionate):Serum ratio of (1-stearoylglycerol (1-monostearin))/(1,7-dimethylurate):Hypertension (early onset hypertension):Transmission distortion:Maternal transmission distortion:Obesity with early age of onset (age >2)
2 174128513 1 MAP3K20 C T exonic nonsynonymous SNV MAP3K20:NM_016653:exon19:c.C1592T:p.S531L RS3769148 LDL cholesterol change with statins:Total cholesterol change with statins:Serum creatinine:Gene expression of ZAK in blood:Serum ratio of (3-methylhistidine)/(laurylcarnitine):Obesity with early age of onset (age >2)
2 174946760 1 OLA1 T C exonic nonsynonymous SNV OLA1:NM_001011708:exon7:c.A287G:p.Y96C,OLA1:NM_013341:exon8:c.A761G:p.Y254C
2 175263063 2 SCRN3 G A exonic nonsynonymous SNV SCRN3:NM_024583:exon2:c.G52A:p.D18N RS10497410 Hip bone mineral density (BMD):Spine bone mineral density (BMD):Fasting blood glucose:Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration:Hypertension (early onset hypertension):Advanced age-related macular degeneration (geographic atrophy):Years of education:College completion:Infant head circumference:Adiponectin levels
2 176866948 1 LNPK G A exonic nonsynonymous SNV LNPK:NM_001305008:exon1:c.C71T:p.A24V,LNPK:NM_001305010:exon1:c.C71T:p.A24V
2 180047908 2 SESTD1 T C exonic synonymous SNV SESTD1:NM_178123:exon3:c.A63G:p.K21K RS6757681 Birth weight
2 180810180 2 CWC22 C T exonic synonymous SNV CWC22:NM_020943:exon20:c.G2403A:p.A801A RS6433817 Birth weight
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 183584755 2 DNAJC10 G A exonic nonsynonymous SNV DNAJC10:NM_001271581:exon4:c.G226A:p.D76N,DNAJC10:NM_018981:exon4:c.G226A:p.D76N
2 183593697 2 DNAJC10 C T exonic synonymous SNV DNAJC10:NM_001271581:exon7:c.C609T:p.S203S,DNAJC10:NM_018981:exon7:c.C609T:p.S203S RS288280 Differential exon level expression of DNAJC10 [probe 2518636] in brain cortex:Alzheimer's disease:Neuroblastoma (brain cancer):Gene expression of DNAJC10 in blood:Serum concentration of erythritol:Sporadic Creutzfeldt-Jakob disease
2 183622547 2 DNAJC10 T G exonic nonsynonymous SNV DNAJC10:NM_001271581:exon18:c.T1800G:p.H600Q,DNAJC10:NM_018981:exon19:c.T1938G:p.H646Q RS288334 Differential exon level expression of DNAJC10 [probe 2518636] in brain cortex:Alzheimer's disease:Neuroblastoma (brain cancer):Gene expression of DNAJC10 in blood:Serum concentration of erythritol:Sporadic Creutzfeldt-Jakob disease
2 183627504 2 DNAJC10 A G exonic synonymous SNV DNAJC10:NM_001271581:exon21:c.A2103G:p.K701K,DNAJC10:NM_018981:exon22:c.A2241G:p.K747K
2 187371544 1 ZC3H15 A G exonic synonymous SNV ZC3H15:NM_018471:exon9:c.A1071G:p.T357T
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 188343497 1 TFPI T C exonic nonsynonymous SNV TFPI:NM_001032281:exon7:c.A662G:p.N221S,TFPI:NM_001318941:exon8:c.A662G:p.N221S RS7586970 Longstanding arthritis:Differential exon level expression of CALCRL [probe 2591390] in brain cortex:Total cholesterol:LDL cholesterol:Waist hip ratio:Coronary artery disease (CAD):Gene expression of TFPI [transcript NM_006287, probe A_32_P100947] in liver:Gene expression of TFPI (probeID ILMN_1701032) in temporal cortex in Alzheimer's disease cases:Gene expression of TFPI (probeID ILMN_1701032) in cerebellum in Alzheimer's disease cases:Gene expression of TFPI (probeID ILMN_1701032) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TFPI (probeID ILMN_1701032) in cerebellum in Alzheimer's disease cases and controls
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 190430177 2 SLC40A1 A G exonic synonymous SNV SLC40A1:NM_014585:exon6:c.T663C:p.V221V RS2304704 Differential exon level expression of SLC40A1 [probe 2591868] in brain cortex:Tardive dyskinesia:Serum creatinine:Gene expression of SLC40A1 in blood:Aortic valve calcium:Advanced age-related macular degeneration (geographic atrophy):Birth weight:Diabetic retinopathy in Type 2 diabetes mellitus:Infant head circumference
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 190620216 1 OSGEPL1 C T exonic nonsynonymous SNV OSGEPL1:NM_022353:exon3:c.G292A:p.A98T
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 191301368 1 MFSD6 A G exonic nonsynonymous SNV MFSD6:NM_017694:exon3:c.A613G:p.R205G RS9646748 Gene expression of MFSD6 [probe 225325_at] in lymphoblastoid cell lines:Longstanding arthritis:Gene expression of FLJ20160 [probe ILMN_5981] in osteoblasts:Major depressive disorder:Total cholesterol change with statins:Triglycerides change with statins:Lp-PLA2 mass:Partial epilepsy:Total cholesterol:Triglycerides:Neuroblastoma (brain cancer):Gene expression of MFSD6 in blood:Serum ratio of (aspartylphenylalanine)/(taurochenodeoxycholate):Systolic blood pressure (SBP):Bipolar disorder:Salmonella-induced pyroptosis:Years of education:Birth weight
2 191379268 2 NEMP2 G A exonic synonymous SNV NEMP2:NM_001142645:exon7:c.C864T:p.A288A RS4586658 Triglycerides:PROP taste detection threshold:Birth weight
2 192160875 2 MYO1B C T exonic synonymous SNV MYO1B:NM_001130158:exon3:c.C174T:p.Y58Y,MYO1B:NM_001161819:exon3:c.C174T:p.Y58Y,MYO1B:NM_001330237:exon3:c.C174T:p.Y58Y,MYO1B:NM_001330238:exon3:c.C174T:p.Y58Y,MYO1B:NM_012223:exon3:c.C174T:p.Y58Y RS4853575 Gene expression of MYO1B [probe 212365_at] in lymphoblastoid cell lines:Gene expression of MYO1B [probe 212364_at] in lymphoblastoid cell lines:Cystatin C in serum:Chronic kidney disease:Serum creatinine:Lp-PLA2 mass:Lp-PLA2 activity:LDL cholesterol:Serum concentration of glucose:Serum ratio of (phenol sulfate)/(pyroglutamylglycine):Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease:Adiponectin levels
2 192250726 1 MYO1B G A exonic synonymous SNV MYO1B:NM_001130158:exon16:c.G1470A:p.E490E,MYO1B:NM_001161819:exon16:c.G1470A:p.E490E,MYO1B:NM_001330237:exon16:c.G1470A:p.E490E,MYO1B:NM_001330238:exon16:c.G1470A:p.E490E,MYO1B:NM_012223:exon16:c.G1470A:p.E490E RS13018796 Infant head circumference
2 192279327 1 MYO1B T C exonic synonymous SNV MYO1B:NM_012223:exon27:c.T2917C:p.L973L,MYO1B:NM_001330237:exon28:c.T3004C:p.L1002L,MYO1B:NM_001330238:exon28:c.T3004C:p.L1002L,MYO1B:NM_001130158:exon29:c.T3091C:p.L1031L,MYO1B:NM_001161819:exon29:c.T3091C:p.L1031L RS2271767 LDL cholesterol:Infant head circumference
2 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 197662526 1 GTF3C3 T C exonic nonsynonymous SNV GTF3C3:NM_001206774:exon2:c.A209G:p.N70S,GTF3C3:NM_012086:exon2:c.A209G:p.N70S RS11559078 Microalbuminuria:PROP taste detection threshold:Gene expression of C2orf66 in normal prepouch ileum
2 198257795 1 SF3B1 T C exonic synonymous SNV SF3B1:NM_012433:exon24:c.A3657G:p.V1219V RS4685 Rheumatoid arthritis:Gene expression of PLCL1 in peripheral blood monocytes:Gene expression of COL6A3 in peripheral blood monocytes:Triglycerides:Infant head circumference
2 198265526 1 SF3B1 A G exonic synonymous SNV SF3B1:NM_012433:exon18:c.T2631C:p.G877G RS788018 Irritible bowel syndrome:Rheumatoid arthritis:Gene expression of SF3B1 in blood:Gene expression of HSPD1///HSPE1 in blood:Serum concentration of cysteine:Infant head circumference
2 198283305 1 SF3B1 T C exonic synonymous SNV SF3B1:NM_012433:exon5:c.A423G:p.K141K RS788023 Rheumatoid arthritis:Infant head circumference
2 198327314 1 COQ10B G A exonic synonymous SNV COQ10B:NM_001320818:exon2:c.G156A:p.K52K,COQ10B:NM_001320819:exon3:c.G222A:p.K74K,COQ10B:NM_001320820:exon3:c.G177A:p.K59K,COQ10B:NM_025147:exon3:c.G306A:p.K102K RS3754822 Hip bone mineral density (BMD):2 hour glucose:HOMA-IR:Fasting insulin:Body mass index (BMI):Serum ratio of (asparagine)/(myo-inositol):Prostate cancer:Gene expression of MARS2 in normal prepouch ileum:Maternal transmission distortion
2 198362018 1 HSPD1 T C exonic synonymous SNV HSPD1:NM_002156:exon3:c.A273G:p.K91K,HSPD1:NM_199440:exon3:c.A273G:p.K91K RS8539 Irritible bowel syndrome:2 hour glucose:Rheumatoid arthritis:Gene expression of PLCL1 in peripheral blood monocytes:Triglycerides:Infant head circumference
2 198363504 1 HSPD1 A G exonic synonymous SNV HSPD1:NM_002156:exon2:c.T69C:p.T23T,HSPD1:NM_199440:exon2:c.T69C:p.T23T
2 200776353 1 C2orf69 T G exonic nonsynonymous SNV C2orf69:NM_153689:exon1:c.T192G:p.D64E
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 201355106 1 KCTD18 G A exonic nonsynonymous SNV KCTD18:NM_001321547:exon7:c.C998T:p.A333V,KCTD18:NM_001321548:exon7:c.C371T:p.A124V,KCTD18:NM_001321550:exon7:c.C371T:p.A124V,KCTD18:NM_152387:exon7:c.C998T:p.A333V RS13018579 Serum ratio of (glycerol 2-phosphate)/(pyroglutamine*)
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 202025621 2 CFLAR A G exonic synonymous SNV CFLAR:NM_001202515:exon5:c.A525G:p.P175P,CFLAR:NM_001202516:exon7:c.A1155G:p.P385P,CFLAR:NM_001202518:exon7:c.A972G:p.P324P,CFLAR:NM_001202517:exon8:c.A972G:p.P324P,CFLAR:NM_001202519:exon8:c.A972G:p.P324P,CFLAR:NM_001351593:exon8:c.A972G:p.P324P,CFLAR:NM_001127183:exon9:c.A1260G:p.P420P,CFLAR:NM_001308042:exon9:c.A1260G:p.P420P,CFLAR:NM_001351590:exon9:c.A1260G:p.P420P,CFLAR:NM_001351594:exon9:c.A972G:p.P324P,CFLAR:NM_003879:exon9:c.A1260G:p.P420P RS1594 Gene expression of Hs.516624 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of CFLAR [probe 211317_s_at] in lymphoblastoid cell lines:Gene expression of CFLAR [probe 208485_x_at] in lymphoblastoid cell lines:Triglycerides change with statins:Gene expression of PPIL3 in Temporal cortex:Triglycerides:Total cholesterol:Gene expression change of CASP10 (ENSG00000003400) in dendritic cells after treatment with Mycobacterium tuberculosis:Advanced age-related macular degeneration:College completion:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Mitral annular calcium:Years of education
2 202050677 2 CASP10 A G exonic synonymous SNV CASP10:NM_001206524:exon2:c.A177G:p.S59S,CASP10:NM_001206542:exon2:c.A177G:p.S59S,CASP10:NM_001230:exon2:c.A177G:p.S59S,CASP10:NM_001306083:exon2:c.A177G:p.S59S,CASP10:NM_032974:exon2:c.A177G:p.S59S,CASP10:NM_032976:exon2:c.A177G:p.S59S,CASP10:NM_032977:exon2:c.A177G:p.S59S RS3900115 Major depressive disorder (broad definition) (females):Major depressive disorder (broad definition):Triglycerides change with statins:LDL cholesterol:Triglycerides:College completion:Mitral annular calcium:Years of education:Gene expression of CFLAR (ENSG00000003402) in dendritic cells treated with Mycobacterium tuberculosis:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression change of CFLAR (ENSG00000003402) in dendritic cells after treatment with Mycobacterium tuberculosis
2 202074098 1 CASP10 G A exonic nonsynonymous SNV CASP10:NM_001206524:exon7:c.G1027A:p.V343I,CASP10:NM_001206542:exon7:c.G1099A:p.V367I,CASP10:NM_001230:exon7:c.G1099A:p.V367I,CASP10:NM_032974:exon9:c.G1228A:p.V410I,CASP10:NM_032977:exon9:c.G1228A:p.V410I RS13010627 2 hour glucose:Fasting blood glucose:Gene expression of PPIL3 in peripheral blood monocytes
2 202082459 2 CASP10 T A exonic nonsynonymous SNV CASP10:NM_001206524:exon8:c.T1363A:p.L455I,CASP10:NM_001230:exon8:c.T1435A:p.L479I,CASP10:NM_032977:exon10:c.T1564A:p.L522I RS13006529 Triglycerides change with statins:Triglycerides:Years of education:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Mitral annular calcium
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 202149589 2 CASP8 G C exonic nonsynonymous SNV CASP8:NM_033356:exon7:c.G808C:p.D270H,CASP8:NM_001080124:exon8:c.G808C:p.D270H,CASP8:NM_001080125:exon8:c.G1030C:p.D344H,CASP8:NM_001228:exon9:c.G904C:p.D302H,CASP8:NM_033355:exon9:c.G853C:p.D285H RS1045485 HDL cholesterol:LDL cholesterol:Total cholesterol:Breast cancer (Estrogen receptor negative breast cancer):Obesity with early age of onset (age >2):Breast cancer:College completion:Breast cancer (Estrogen receptor negative breast cancer)
2 202264156 1 TRAK2 C T exonic nonsynonymous SNV TRAK2:NM_015049:exon5:c.G424A:p.V142I RS13022344 Partial epilepsy:LDL cholesterol:Total cholesterol:Gene expression of ALS2CR2 in blood:Cognitive response to topiramate treatment as measured by the Controlled Oral Word Association cognitive test:College completion
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 202342402 1 STRADB G T exonic synonymous SNV STRADB:NM_001206864:exon8:c.G609T:p.L203L,STRADB:NM_018571:exon8:c.G609T:p.L203L
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 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 207631461 1 FASTKD2 G A exonic nonsynonymous SNV FASTKD2:NM_001136193:exon2:c.G44A:p.S15N,FASTKD2:NM_001136194:exon2:c.G44A:p.S15N,FASTKD2:NM_014929:exon2:c.G44A:p.S15N RS3762568 LDL cholesterol change with statins:Cystatin C in serum
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 208478055 1 METTL21A A G exonic synonymous SNV METTL21A:NM_001127395:exon4:c.T372C:p.T124T,METTL21A:NM_001330130:exon4:c.T372C:p.T124T,METTL21A:NM_001330134:exon4:c.T372C:p.T124T,METTL21A:NM_145280:exon4:c.T372C:p.T124T,METTL21A:NM_001330137:exon5:c.T426C:p.T142T RS17520056 Rheumatoid arthritis
2 208633413 2 FZD5 T C exonic synonymous SNV FZD5:NM_003468:exon2:c.A51G:p.L17L
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 211456637 1 CPS1 A G exonic nonsynonymous SNV CPS1:NM_001875:exon10:c.A1030G:p.T344A,CPS1:NM_001122633:exon11:c.A1048G:p.T350A RS1047883 HDL cholesterol:LDL cholesterol
2 211456639 1 CPS1 C T exonic synonymous SNV CPS1:NM_001875:exon10:c.C1032T:p.T344T,CPS1:NM_001122633:exon11:c.C1050T:p.T350T RS2229589 HDL cholesterol
2 214142447 1 LOC100130451 G A exonic synonymous SNV LOC100130451:NM_001242575:exon3:c.C429T:p.C143C
2 215632255 2 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 216190020 1 ATIC C G exonic nonsynonymous SNV ATIC:NM_004044:exon5:c.C347G:p.T116S RS2372536 Tardive dyskinesia:Abnormal Involuntary Movement Scale:Triglycerides change with statins:LDL cholesterol
2 216229692 1 FN1 A G exonic synonymous SNV FN1:NM_212474:exon42:c.T6258C:p.Y2086Y,FN1:NM_212476:exon42:c.T6618C:p.Y2206Y,FN1:NM_001306130:exon43:c.T6531C:p.Y2177Y,FN1:NM_001306131:exon43:c.T6525C:p.Y2175Y,FN1:NM_001306132:exon43:c.T6450C:p.Y2150Y,FN1:NM_002026:exon44:c.T6795C:p.Y2265Y,FN1:NM_212478:exon44:c.T6720C:p.Y2240Y,FN1:NM_212482:exon44:c.T7161C:p.Y2387Y,FN1:NM_001306129:exon45:c.T7068C:p.Y2356Y RS11651 Gene expression of ATIC in peripheral blood monocytes:Urinary albumin-to-creatinine ratio
2 216235089 2 FN1 C T exonic nonsynonymous SNV FN1:NM_212474:exon39:c.G5878A:p.V1960I,FN1:NM_212476:exon39:c.G6238A:p.V2080I,FN1:NM_001306130:exon40:c.G6151A:p.V2051I,FN1:NM_001306131:exon40:c.G6145A:p.V2049I,FN1:NM_001306132:exon40:c.G6070A:p.V2024I,FN1:NM_002026:exon41:c.G6415A:p.V2139I,FN1:NM_212478:exon41:c.G6340A:p.V2114I,FN1:NM_212482:exon41:c.G6781A:p.V2261I,FN1:NM_001306129:exon42:c.G6688A:p.V2230I
2 216242917 1 FN1 T A exonic synonymous SNV FN1:NM_001306131:exon33:c.A5148T:p.G1716G,FN1:NM_001306132:exon33:c.A5148T:p.G1716G,FN1:NM_212474:exon33:c.A5148T:p.G1716G,FN1:NM_212476:exon33:c.A5148T:p.G1716G,FN1:NM_001306130:exon34:c.A5421T:p.G1807G,FN1:NM_002026:exon34:c.A5418T:p.G1806G,FN1:NM_212478:exon34:c.A5418T:p.G1806G,FN1:NM_001306129:exon35:c.A5691T:p.G1897G,FN1:NM_212482:exon35:c.A5691T:p.G1897G
2 216249587 2 FN1 C T exonic synonymous SNV FN1:NM_001306131:exon28:c.G4452A:p.E1484E,FN1:NM_001306132:exon28:c.G4452A:p.E1484E,FN1:NM_002026:exon28:c.G4452A:p.E1484E,FN1:NM_212474:exon28:c.G4452A:p.E1484E,FN1:NM_212476:exon28:c.G4452A:p.E1484E,FN1:NM_212478:exon28:c.G4452A:p.E1484E,FN1:NM_001306129:exon29:c.G4725A:p.E1575E,FN1:NM_001306130:exon29:c.G4725A:p.E1575E,FN1:NM_212482:exon29:c.G4725A:p.E1575E RS13652 Hip bone mineral density (BMD):HOMA-B:Microalbuminuria:Late onset Alzheimer's disease
2 216269209 1 FN1 T G exonic synonymous SNV FN1:NM_001306129:exon20:c.A3156C:p.P1052P,FN1:NM_001306130:exon20:c.A3156C:p.P1052P,FN1:NM_001306131:exon20:c.A3156C:p.P1052P,FN1:NM_001306132:exon20:c.A3156C:p.P1052P,FN1:NM_002026:exon20:c.A3156C:p.P1052P,FN1:NM_212474:exon20:c.A3156C:p.P1052P,FN1:NM_212476:exon20:c.A3156C:p.P1052P,FN1:NM_212478:exon20:c.A3156C:p.P1052P,FN1:NM_212482:exon20:c.A3156C:p.P1052P RS1053238 Triglycerides change with statins:LDL cholesterol:Total cholesterol
2 216269254 1 FN1 T G exonic synonymous SNV FN1:NM_001306129:exon20:c.A3111C:p.G1037G,FN1:NM_001306130:exon20:c.A3111C:p.G1037G,FN1:NM_001306131:exon20:c.A3111C:p.G1037G,FN1:NM_001306132:exon20:c.A3111C:p.G1037G,FN1:NM_002026:exon20:c.A3111C:p.G1037G,FN1:NM_212474:exon20:c.A3111C:p.G1037G,FN1:NM_212476:exon20:c.A3111C:p.G1037G,FN1:NM_212478:exon20:c.A3111C:p.G1037G,FN1:NM_212482:exon20:c.A3111C:p.G1037G
2 216300482 1 FN1 T A exonic nonsynonymous SNV FN1:NM_001306129:exon1:c.A44T:p.Q15L,FN1:NM_001306130:exon1:c.A44T:p.Q15L,FN1:NM_001306131:exon1:c.A44T:p.Q15L,FN1:NM_001306132:exon1:c.A44T:p.Q15L,FN1:NM_002026:exon1:c.A44T:p.Q15L,FN1:NM_054034:exon1:c.A44T:p.Q15L,FN1:NM_212474:exon1:c.A44T:p.Q15L,FN1:NM_212476:exon1:c.A44T:p.Q15L,FN1:NM_212478:exon1:c.A44T:p.Q15L,FN1:NM_212482:exon1:c.A44T:p.Q15L RS1250259 Triglycerides change with statins:LDL cholesterol:Total cholesterol:Waist hip ratio:Nonsyndromic striae distensae (stretch marks)
2 217012901 1 XRCC5 A G exonic synonymous SNV XRCC5:NM_021141:exon14:c.A1572G:p.T524T RS207906 Gene expression of XRCC5 in blood:Salmonella-induced pyroptosis:Gene expression change of PECR (ENSG00000115425) in dendritic cells after treatment with Mycobacterium tuberculosis:Infant head circumference:Gene expression of PECR (ENSG00000115425) in dendritic cells treated with Mycobacterium tuberculosis:Maternal transmission distortion
2 217279768 1 SMARCAL1 G A exonic nonsynonymous SNV SMARCAL1:NM_001127207:exon3:c.G341A:p.R114H,SMARCAL1:NM_014140:exon3:c.G341A:p.R114H
2 217285119 1 SMARCAL1 C T exonic synonymous SNV SMARCAL1:NM_001127207:exon5:c.C960T:p.A320A,SMARCAL1:NM_014140:exon5:c.C960T:p.A320A
2 218674697 1 TNS1 C T exonic nonsynonymous SNV TNS1:NM_001308023:exon27:c.G4747A:p.V1583I,TNS1:NM_001308022:exon28:c.G4768A:p.V1590I,TNS1:NM_022648:exon30:c.G4810A:p.V1604I RS918949 Spine bone mineral density (BMD):Tardive dyskinesia:HDL cholesterol:Body mass index (BMI):Gene expression of TNS1 in blood:Systolic blood pressure (SBP):Coronary artery disease (CAD):Lung function, forced expiratory volume in 1 second (FEV1) percent predicted (in nonasthmatic participants)
2 218683154 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 218712306 1 TNS1 C T exonic synonymous SNV TNS1:NM_001308022:exon16:c.G2559A:p.A853A,TNS1:NM_001308023:exon16:c.G2559A:p.A853A,TNS1:NM_022648:exon17:c.G2559A:p.A853A
2 218745685 2 TNS1 G A exonic synonymous SNV TNS1:NM_001308022:exon15:c.C990T:p.S330S,TNS1:NM_001308023:exon15:c.C990T:p.S330S,TNS1:NM_022648:exon16:c.C990T:p.S330S RS10199795 College completion
2 219140288 1 TMBIM1 G C exonic synonymous SNV TMBIM1:NM_001321438:exon11:c.C513G:p.P171P,TMBIM1:NM_001321428:exon12:c.C846G:p.P282P,TMBIM1:NM_001321432:exon12:c.C846G:p.P282P,TMBIM1:NM_022152:exon12:c.C846G:p.P282P,TMBIM1:NM_001321427:exon13:c.C846G:p.P282P,TMBIM1:NM_001321429:exon13:c.C846G:p.P282P,TMBIM1:NM_001321430:exon13:c.C846G:p.P282P,TMBIM1:NM_001321433:exon13:c.C846G:p.P282P,TMBIM1:NM_001321435:exon13:c.C846G:p.P282P,TMBIM1:NM_001321436:exon13:c.C846G:p.P282P RS2292550 Fasting blood glucose:Rheumatoid arthritis:Height:Birth weight:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Aortic valve calcium
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 219146803 1 TMBIM1 G A exonic nonsynonymous SNV TMBIM1:NM_001321428:exon2:c.C62T:p.P21L,TMBIM1:NM_001321432:exon2:c.C62T:p.P21L,TMBIM1:NM_022152:exon2:c.C62T:p.P21L,TMBIM1:NM_001321427:exon3:c.C62T:p.P21L,TMBIM1:NM_001321429:exon3:c.C62T:p.P21L,TMBIM1:NM_001321430:exon3:c.C62T:p.P21L,TMBIM1:NM_001321433:exon3:c.C62T:p.P21L,TMBIM1:NM_001321435:exon3:c.C62T:p.P21L,TMBIM1:NM_001321436:exon3:c.C62T:p.P21L
2 219267781 1 CTDSP1 C T exonic synonymous SNV CTDSP1:NM_001206878:exon5:c.C399T:p.H133H,CTDSP1:NM_021198:exon5:c.C402T:p.H134H,CTDSP1:NM_182642:exon5:c.C399T:p.H133H RS2227255 Schizophrenia:Differential exon level expression of CTDSP1 [probe 2527799] in brain cortex:Differential exon level expression of CTDSP1 [probe 2527799] in peripheral blood mononuclear cells:Abnormal Involuntary Movement Scale:Gene expression of SLC11A1 in CD4+ lymphocytes:Height:Body mass index (BMI):Gene expression of CTDSP1///hsa-mir in blood:Gene expression of SLC11A1 in blood:Serum ratio of (cysteine-glutathione disulfide)/(oleoylcarnitine):Gene expression of CTDSP1 (ENSG00000144579) in dendritic cells treated with Mycobacterium tuberculosis
2 219292724 1 VIL1 C T exonic synonymous SNV VIL1:NM_007127:exon5:c.C384T:p.H128H
2 219319657 2 USP37 A G exonic nonsynonymous SNV USP37:NM_020935:exon26:c.T2936C:p.L979S
2 219508372 1 ZNF142 A T exonic nonsynonymous SNV ZNF142:NM_001105537:exon8:c.T2867A:p.L956H RS3770213 Height:Suicide attempts in major depressive disorder
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 219562675 1 STK36 G A exonic nonsynonymous SNV STK36:NM_001243313:exon25:c.G2945A:p.G982D,STK36:NM_015690:exon25:c.G3008A:p.G1003D RS1863704 Gene expression of RQCD1 [probe 213098_at] in lymphoblastoid cell lines:Gene expression of CYP27A1 in blood cells in Celiac disease:Premature ovarian failure:HOMA-B:Fasting insulin:Triglycerides change with statins:Gene expression of FAM134A [probe 221983_at] in prefrontal cortex:Gene expression of SLC11A1 in peripheral blood monocytes:Gene expression of STK36 in peripheral blood monocytes:Gene expression of CYP27A1 in peripheral blood monocytes:Triglycerides:Height:Body mass index (BMI):Suicide attempts in major depressive disorder:Gene expression of CYP27A1 in blood:Gene expression of ZNF142 in blood:Gene expression of TTLL4 in blood:Gene expression of RQCD1 in blood:Serum ratio of (glutamate)/(N2,N2-dimethylguanosine):Tetrology of fallot:Gene expression of SLC27A1 (probeID ILMN_1704985) in whole blood in amyotrophic lateral sclerosis cases and controls:Amyotrophic lateral sclerosis (ALS):Amyotrophic lateral sclerosis (ALS):Gene expression of CYP27A1 (probeID ILMN_1704985) in whole blood
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 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 220037666 1 CNPPD1 A G exonic nonsynonymous SNV CNPPD1:NM_015680:exon8:c.T875C:p.L292P,CNPPD1:NM_001321389:exon9:c.T875C:p.L292P,CNPPD1:NM_001321390:exon9:c.T875C:p.L292P,CNPPD1:NM_001321391:exon9:c.T875C:p.L292P RS1127102 Gene expression of SLC23A3 in CD4+ lymphocytes:Hypertension (early onset hypertension)
2 220037756 1 CNPPD1 A G exonic nonsynonymous SNV CNPPD1:NM_015680:exon8:c.T785C:p.I262T,CNPPD1:NM_001321389:exon9:c.T785C:p.I262T,CNPPD1:NM_001321390:exon9:c.T785C:p.I262T,CNPPD1:NM_001321391:exon9:c.T785C:p.I262T RS1043160 Longstanding arthritis:Gene expression of SLC23A3 in CD4+ lymphocytes:Height:Gene expression of STK16 [transcript NM_001008910, probe A_23_P108514] in liver:Gene expression of FAM134A in blood:Gene expression of SLC23A3///NHEJ1 in blood:Gene expression of ANKZF1///GLB1L in blood:Gene expression of C2orf24 in blood:Hypertension (early onset hypertension)
2 220040330 1 CNPPD1 A G exonic synonymous SNV CNPPD1:NM_015680:exon3:c.T243C:p.Y81Y,CNPPD1:NM_001321389:exon4:c.T243C:p.Y81Y,CNPPD1:NM_001321390:exon4:c.T243C:p.Y81Y,CNPPD1:NM_001321391:exon4:c.T243C:p.Y81Y RS1127101 Hypertension, combined control dataset:Simpson-Angus Scale:Major depressive disorder:Gene expression of FAM134A in peripheral blood monocytes:Gene expression of GLB1L in peripheral blood monocytes:Gene expression of SLC23A3 in peripheral blood monocytes:Height:Transmission distortion:Maternal transmission distortion
2 220045454 1 RETREG2 G A exonic synonymous SNV RETREG2:NM_024293:exon5:c.G618A:p.G206G RS2293072 Gene expression of FAM134A in peripheral blood monocytes:Height:Eosinophil count:Serum ratio of (p-cresol sulfate)/(sebacate (decanedioate)):Comorbid depressive syndrome and alcohol dependence:PROP taste detection threshold:Refractive error:Salmonella-induced pyroptosis
2 220046975 1 RETREG2 C A exonic nonsynonymous SNV RETREG2:NM_001321110:exon8:c.C635A:p.P212Q,RETREG2:NM_001321109:exon9:c.C635A:p.P212Q,RETREG2:NM_024293:exon9:c.C1256A:p.P419Q RS3731900 Gene expression of SLC23A3 in blood cells in Celiac disease:Total cholesterol change with statins:Gene expression of SLC23A3 in CD4+ lymphocytes:Gene expression of FAM134A in blood:Gene expression of SLC23A3///NHEJ1 in blood:Gene expression of ANKZF1///GLB1L in blood:Gene expression of C2orf24 in blood:Serum ratio of (1-oleoylglycerophosphoethanolamine)/(proline):Gene expression of SLC23A3 [probeset 230949_at] in sputum:Hypertension (early onset hypertension)
2 220047173 1 RETREG2 A T exonic nonsynonymous SNV RETREG2:NM_001321109:exon9:c.A833T:p.E278V,RETREG2:NM_001321110:exon9:c.A728T:p.E243V,RETREG2:NM_024293:exon9:c.A1454T:p.E485V
2 220083279 1 ABCB6 C T exonic synonymous SNV ABCB6:NM_001349828:exon1:c.G117A:p.L39L,ABCB6:NM_005689:exon1:c.G117A:p.L39L RS1109866 HDL cholesterol:Cystatin C in serum:Years of education:College completion
2 220085845 2 ATG9A A G exonic synonymous SNV ATG9A:NM_024085:exon13:c.T2325C:p.T775T,ATG9A:NM_001077198:exon14:c.T2325C:p.T775T RS2276633 Triglycerides:HDL cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
2 220087441 1 ATG9A T C exonic nonsynonymous SNV ATG9A:NM_024085:exon10:c.A1774G:p.S592G,ATG9A:NM_001077198:exon11:c.A1774G:p.S592G RS2276635 Total cholesterol:LDL cholesterol:Years of education:Diabetic retinopathy in Type 2 diabetes mellitus
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 220369959 1 GMPPA A T exonic synonymous SNV GMPPA:NM_013335:exon8:c.A630T:p.S210S,GMPPA:NM_205847:exon8:c.A630T:p.S210S
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 220404648 1 CHPF C T exonic synonymous SNV CHPF:NM_001195731:exon4:c.G1299A:p.L433L,CHPF:NM_024536:exon4:c.G1785A:p.L595L RS1043833 Triglycerides:Total cholesterol:Triglycerides:HDL cholesterol:Waist hip ratio:Gene expression of TMEM198 in normal prepouch ileum:Gene expression of CHPF in normal prepouch ileum
2 220404726 1 CHPF G A exonic synonymous SNV CHPF:NM_001195731:exon4:c.C1221T:p.H407H,CHPF:NM_024536:exon4:c.C1707T:p.H569H
2 220405230 1 CHPF G A exonic synonymous SNV CHPF:NM_001195731:exon4:c.C717T:p.H239H,CHPF:NM_024536:exon4:c.C1203T:p.H401H
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 220412282 1 TMEM198 T G exonic nonsynonymous SNV TMEM198:NM_001005209:exon3:c.T221G:p.V74G,TMEM198:NM_001303098:exon4:c.T221G:p.V74G
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 220414019 1 TMEM198 T C exonic synonymous SNV TMEM198:NM_001005209:exon4:c.T888C:p.P296P,TMEM198:NM_001303098:exon5:c.T888C:p.P296P
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 220422774 1 OBSL1 A G exonic synonymous SNV OBSL1:NM_001173431:exon11:c.T3561C:p.P1187P,OBSL1:NM_015311:exon11:c.T3561C:p.P1187P
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 220431631 1 OBSL1 G T exonic synonymous SNV OBSL1:NM_001173408:exon5:c.C2055A:p.A685A,OBSL1:NM_001173431:exon5:c.C2055A:p.A685A,OBSL1:NM_015311:exon5:c.C2055A:p.A685A
2 220432014 1 OBSL1 G A exonic synonymous SNV OBSL1:NM_001173408:exon4:c.C1818T:p.F606F,OBSL1:NM_001173431:exon4:c.C1818T:p.F606F,OBSL1:NM_015311:exon4:c.C1818T:p.F606F
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 220473025 1 STK11IP G A exonic synonymous SNV STK11IP:NM_052902:exon14:c.G1476A:p.A492A
2 220476443 2 STK11IP C T exonic nonsynonymous SNV STK11IP:NM_052902:exon18:c.C2222T:p.S741F RS627530 Triglycerides
2 223436607 1 FARSB C T exonic nonsynonymous SNV FARSB:NM_005687:exon17:c.G1753A:p.V585I RS7185 Irritible bowel syndrome:Alzheimer's disease:Eur students <30 Digit Symbol:Total cholesterol:Autism:Asthma:Infant head circumference
2 223795450 1 ACSL3 T C exonic nonsynonymous SNV ACSL3:NM_203372:exon13:c.T1652C:p.F551S,ACSL3:NM_004457:exon14:c.T1652C:p.F551S
2 224856650 1 SERPINE2 G A exonic synonymous SNV SERPINE2:NM_001136528:exon4:c.C555T:p.N185N,SERPINE2:NM_001136530:exon4:c.C591T:p.N197N,SERPINE2:NM_006216:exon4:c.C555T:p.N185N RS6712954 Diabetic retinopathy in Type 2 diabetes mellitus
2 227661043 1 IRS1 T C exonic synonymous SNV IRS1:NM_005544:exon1:c.A2412G:p.A804A RS1801123 Gene expression of IRS1 in CEU-CHB-JPT lymphoblastoid cell lines:HOMA-IR:Fasting insulin:Rheumatoid arthritis:Height:Infant head circumference
2 228398422 1 AGFG1 A G exonic synonymous SNV AGFG1:NM_001135189:exon6:c.A852G:p.A284A,AGFG1:NM_001135188:exon7:c.A972G:p.A324A,AGFG1:NM_004504:exon7:c.A972G:p.A324A,AGFG1:NM_001135187:exon8:c.A1044G:p.A348A
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 231902316 1 C2orf72 T C exonic synonymous SNV C2orf72:NM_001144994:exon1:c.T36C:p.L12L
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 232099979 1 ARMC9 G A exonic nonsynonymous SNV ARMC9:NM_001291656:exon8:c.G665A:p.R222H,ARMC9:NM_025139:exon8:c.G665A:p.R222H
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 233413771 1 TIGD1 C T exonic synonymous SNV TIGD1:NM_145702:exon1:c.G822A:p.A274A RS6752614 Myopia
2 233414341 1 TIGD1 C T exonic synonymous SNV TIGD1:NM_145702:exon1:c.G252A:p.K84K RS4973540 Myopia
2 233684603 1 GIGYF2 A G exonic nonsynonymous SNV GIGYF2:NM_001103148:exon20:c.A2419G:p.R807G,GIGYF2:NM_001103146:exon21:c.A2437G:p.R813G,GIGYF2:NM_001103147:exon23:c.A2500G:p.R834G,GIGYF2:NM_015575:exon23:c.A2437G:p.R813G
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 233757679 1 NGEF G A exonic synonymous SNV NGEF:NM_001114090:exon5:c.C795T:p.A265A,NGEF:NM_019850:exon7:c.C1071T:p.A357A RS748002 Height:Urinary albumin-to-creatinine ratio:Years of education
2 233757697 2 NGEF A G exonic synonymous SNV NGEF:NM_001114090:exon5:c.T777C:p.I259I,NGEF:NM_019850:exon7:c.T1053C:p.I351I RS895432 Total cholesterol change with statins:Lp-PLA2 activity:Serum ratio of (cysteine-glutathione disulfide)/(lathosterol):Infant head circumference:Refractive error
2 233785015 2 NGEF G A exonic synonymous SNV NGEF:NM_001114090:exon3:c.C531T:p.P177P,NGEF:NM_019850:exon5:c.C807T:p.P269P RS778354 Tardive dyskinesia:Total cholesterol change with statins:Serum ratio of (n-Butyl Oleate)/(sebacate (decanedioate)):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Mitral annular calcium:Prostate cancer:Refractive error
2 233834975 2 NGEF A G exonic nonsynonymous SNV NGEF:NM_019850:exon3:c.T332C:p.M111T RS4973588 2 hour glucose:Triglycerides change with statins:HDL cholesterol change with statins:Autism:Diastolic blood pressure (DBP):Systolic blood pressure (SBP)
2 234066969 1 INPP5D C G exonic unknown UNKNOWN
2 234113057 1 INPP5D G A exonic unknown UNKNOWN RS7346 Diabetic retinopathy in Type 2 diabetes mellitus
2 234113301 1 INPP5D C T exonic unknown UNKNOWN RS9247 Asthma:Hypertension (early onset hypertension):Diabetic retinopathy in Type 2 diabetes mellitus
2 234750542 1 HJURP G C exonic nonsynonymous SNV HJURP:NM_001282963:exon5:c.C629G:p.S210C,HJURP:NM_001282962:exon6:c.C722G:p.S241C,HJURP:NM_018410:exon8:c.C884G:p.S295C RS3732215 LDL cholesterol change with statins:Cystatin C in serum:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
2 234750831 1 HJURP T C exonic nonsynonymous SNV HJURP:NM_001282963:exon5:c.A340G:p.R114G,HJURP:NM_001282962:exon6:c.A433G:p.R145G,HJURP:NM_018410:exon8:c.A595G:p.R199G RS3806589 Longstanding arthritis:HDL cholesterol:Cystatin C in serum:Partial epilepsy:Variant Creutzfeldt-Jakob disease:Salmonella-induced pyroptosis
2 235950187 1 SH3BP4 T C exonic synonymous SNV SH3BP4:NM_014521:exon4:c.T774C:p.D258D RS1469375 Triglycerides:2 hour glucose:Ulcerative colitis:Asthma:Serum concentration of inosine:Adiponectin levels
2 235951819 1 SH3BP4 A G exonic synonymous SNV SH3BP4:NM_014521:exon4:c.A2406G:p.L802L RS3795962 2 hour glucose:Adiponectin levels
2 236957822 2 AGAP1 G A exonic nonsynonymous SNV AGAP1:NM_014914:exon15:c.G1852A:p.V618I,AGAP1:NM_001037131:exon16:c.G2011A:p.V671I RS2034648 Body mass index (BMI):Diastolic blood pressure (DBP):Paternal transmission distortion:Transmission distortion:Maternal transmission distortion:Hypertension (early onset hypertension)
2 238969711 1 SCLY G A exonic nonsynonymous SNV SCLY:NM_016510:exon1:c.G40A:p.A14T
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 241404317 2 GPC1 C T exonic synonymous SNV GPC1:NM_002081:exon6:c.C1059T:p.P353P
2 241405528 2 GPC1 A G exonic nonsynonymous SNV GPC1:NM_002081:exon9:c.A1498G:p.S500G RS2228331 Total cholesterol:Serum creatinine:Intracranial aneurysm (female)
2 241463453 1 ANKMY1 C A exonic nonsynonymous SNV ANKMY1:NM_001282780:exon6:c.G991T:p.V331L,ANKMY1:NM_001308375:exon6:c.G1228T:p.V410L,ANKMY1:NM_017844:exon6:c.G991T:p.V331L,ANKMY1:NM_016552:exon7:c.G1414T:p.V472L,ANKMY1:NM_001282771:exon8:c.G1681T:p.V561L RS3821348 Gene expression of ANKMY1 in blood cells in Celiac disease:Gene expression of ANKMY1 [probe 2606741] in peripheral blood mononuclear cells:Gene expression of ANKMY1 [probe ILMN_24429] in osteoblasts:Serum creatinine:Gene expression of ANKMY1 in CD4+ lymphocytes:Gene expression of ANKMY1 [probe ILMN_24429] in untreated osteoblasts:Gene expression of ANKMY1 [probe ILMN_24429] in osteoblasts treated with PGE2:Gene expression of ANKMY1 [probe ILMN_24429] in osteoblasts treated with BMP2:Gene expression of ANKMY1 [probe ILMN_24429] in osteoblasts treated with dexamethasone:Gene expression of ANKMY1 in blood:Gene expression of DUSP28 in blood:Serum concentration of fructose:Bipolar disorder:Transmission distortion
2 241537421 2 CAPN10 G A exonic synonymous SNV CAPN10:NM_023085:exon8:c.G1395A:p.A465A,CAPN10:NM_023083:exon10:c.G1860A:p.A620A RS3749166 Total cholesterol:Adiponectin levels
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 241558397 1 GPR35 G A exonic nonsynonymous SNV GPR35:NM_001195381:exon5:c.G38A:p.R13H,GPR35:NM_001195382:exon5:c.G38A:p.R13H
2 241570249 1 GPR35 A C exonic nonsynonymous SNV GPR35:NM_005301:exon2:c.A880C:p.S294R,GPR35:NM_001195381:exon6:c.A973C:p.S325R,GPR35:NM_001195382:exon6:c.A973C:p.S325R RS3749172 Aortic valve calcium
2 241828034 2 C2orf54 A G exonic nonsynonymous SNV C2orf54:NM_001085437:exon4:c.T926C:p.L309P,C2orf54:NM_001282921:exon4:c.T479C:p.L160P,C2orf54:NM_024861:exon4:c.T422C:p.L141P
2 242035544 1 MTERF4 G C exonic nonsynonymous SNV MTERF4:NM_001330179:exon3:c.C451G:p.L151V,MTERF4:NM_182501:exon4:c.C1015G:p.L339V RS2240539 Fasting blood glucose:HOMA-IR:HDL cholesterol
2 242039198 1 MTERF4 T C exonic nonsynonymous SNV MTERF4:NM_001330180:exon2:c.A133G:p.T45A,MTERF4:NM_182501:exon2:c.A133G:p.T45A RS3796093 Irritible bowel syndrome:HOMA-IR:Fasting blood glucose:HDL cholesterol:Gene expression of PASK in blood:Gene expression of MTERFD2 in normal prepouch ileum:Maternal transmission distortion
2 242063448 1 PASK G A exonic synonymous SNV PASK:NM_001252119:exon11:c.C2820T:p.A940A,PASK:NM_001252122:exon11:c.C2715T:p.A905A,PASK:NM_001252124:exon11:c.C2820T:p.A940A,PASK:NM_015148:exon11:c.C2820T:p.A940A,PASK:NM_001252120:exon12:c.C2820T:p.A940A
2 242066314 1 PASK T C exonic synonymous SNV PASK:NM_001252119:exon10:c.A2016G:p.A672A,PASK:NM_001252122:exon10:c.A1911G:p.A637A,PASK:NM_001252124:exon10:c.A2016G:p.A672A,PASK:NM_015148:exon10:c.A2016G:p.A672A,PASK:NM_001252120:exon11:c.A2016G:p.A672A RS2240542 HOMA-B
2 242072357 1 PASK G A exonic synonymous SNV PASK:NM_001252119:exon9:c.C1395T:p.T465T,PASK:NM_001252122:exon9:c.C1290T:p.T430T,PASK:NM_001252124:exon9:c.C1395T:p.T465T,PASK:NM_015148:exon9:c.C1395T:p.T465T,PASK:NM_001252120:exon10:c.C1395T:p.T465T
2 242203916 2 HDLBP A C exonic nonsynonymous SNV HDLBP:NM_001320965:exon4:c.T181G:p.S61A,HDLBP:NM_001320966:exon4:c.T181G:p.S61A,HDLBP:NM_001320967:exon4:c.T181G:p.S61A,HDLBP:NM_005336:exon4:c.T181G:p.S61A,HDLBP:NM_203346:exon4:c.T181G:p.S61A,HDLBP:NM_001243900:exon5:c.T289G:p.S97A
2 242572846 1 THAP4 A G exonic synonymous SNV THAP4:NM_015963:exon2:c.T726C:p.S242S
2 242573211 1 THAP4 T C exonic nonsynonymous SNV THAP4:NM_015963:exon2:c.A361G:p.S121G
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
2 242618050 1 DTYMK A G exonic synonymous SNV DTYMK:NM_001320902:exon3:c.T216C:p.D72D,DTYMK:NM_001320904:exon4:c.T288C:p.D96D,DTYMK:NM_012145:exon4:c.T345C:p.D115D,DTYMK:NM_001320905:exon5:c.T462C:p.D154D
2 242757820 1 NEU4 G A exonic nonsynonymous SNV NEU4:NM_001167599:exon4:c.G940A:p.G314R,NEU4:NM_001167600:exon4:c.G901A:p.G301R,NEU4:NM_001167601:exon4:c.G901A:p.G301R,NEU4:NM_080741:exon4:c.G937A:p.G313R,NEU4:NM_001167602:exon5:c.G901A:p.G301R
3 3170792 1 TRNT1 C T exonic nonsynonymous SNV TRNT1:NM_001302946:exon2:c.C68T:p.P23L,TRNT1:NM_182916:exon2:c.C68T:p.P23L RS334773 Salmonella-induced pyroptosis
3 3189279 1 TRNT1 A G exonic synonymous SNV TRNT1:NM_001302946:exon7:c.A888G:p.A296A,TRNT1:NM_182916:exon7:c.A948G:p.A316A RS1705805 Gene expression of TRNT1 in YRI lymphoblastoid cell lines:HOMA-IR:Fasting insulin:HOMA-B:Body mass index (BMI):Gene expression of CRBN in blood
3 4403837 1 SUMF1 A G exonic synonymous SNV SUMF1:NM_001164674:exon8:c.T1041C:p.T347T,SUMF1:NM_001164675:exon8:c.T1056C:p.T352T,SUMF1:NM_182760:exon9:c.T1116C:p.T372T RS2633852 Gene expression of SUMF1 in peripheral blood monocytes:Gene expression of SETMAR in peripheral blood monocytes:Triglycerides:PROP taste detection threshold:Gene expression of SUMF1 in normal prepouch ileum:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Transmission distortion
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 5241309 2 EDEM1 C A exonic synonymous SNV EDEM1:NM_014674:exon3:c.C615A:p.A205A RS410509 LDL cholesterol:Intron expression
3 9406836 2 THUMPD3 T C exonic synonymous SNV THUMPD3:NM_001114092:exon2:c.T84C:p.S28S,THUMPD3:NM_015453:exon2:c.T84C:p.S28S RS1054975 Triglycerides:Fasting blood glucose:Gene expression of THUMPD3 in normal prepouch ileum:Advanced age-related macular degeneration (geographic atrophy)
3 9422210 2 THUMPD3 T C exonic synonymous SNV THUMPD3:NM_001114092:exon7:c.T1032C:p.C344C,THUMPD3:NM_015453:exon7:c.T1032C:p.C344C RS2596916 Microalbuminuria:Serum ratio of (sebacate (decanedioate))/(taurolithocholate 3-sulfate)
3 9425911 2 THUMPD3 G A exonic synonymous SNV THUMPD3:NM_001114092:exon9:c.G1251A:p.K417K,THUMPD3:NM_015453:exon9:c.G1251A:p.K417K RS1129170 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
3 9426330 1 THUMPD3 A G exonic synonymous SNV THUMPD3:NM_001114092:exon10:c.A1482G:p.E494E,THUMPD3:NM_015453:exon10:c.A1482G:p.E494E
3 9870857 1 ARPC4-TTLL3;TTLL3 G A exonic synonymous SNV TTLL3:NM_001025930:exon10:c.G1761A:p.Q587Q,ARPC4-TTLL3:NM_001198793:exon11:c.G1515A:p.Q505Q
3 9871030 1 ARPC4-TTLL3;TTLL3 T G exonic nonsynonymous SNV TTLL3:NM_001025930:exon10:c.T1934G:p.M645R,ARPC4-TTLL3:NM_001198793:exon11:c.T1688G:p.M563R
3 9934605 1 JAGN1 T C exonic synonymous SNV JAGN1:NM_032492:exon2:c.T96C:p.T32T RS279553 Hip bone mineral density (BMD):Spine bone mineral density (BMD):Total cholesterol:Triglycerides change with statins:Chronic kidney disease:Cystatin C in serum:Gene expression of IL17RC in peripheral blood monocytes:Gene expression of CRELD1 in peripheral blood monocytes:Gene expression of PACAP in peripheral blood monocytes:HDL cholesterol:Height:Gene expression of TTLL3 in blood:Gene expression of CRELD1///PRRT3 in blood:Serum concentration of threitol:Emergence of suicidal ideation during treatment with antidepressants:Emergence of suicidal ideation during treatment with antidepressants  (broad definition - no increase in suicide ideation):Emergence of suicidal ideation during treatment with antidepressants  (narrow definition - emergence from suicidal ideation absent at baseline):Age at death with kuru exposure:Transmission distortion
3 9944636 1 IL17RE C T exonic nonsynonymous SNV IL17RE:NM_001193380:exon1:c.C20T:p.A7V,IL17RE:NM_153480:exon1:c.C20T:p.A7V,IL17RE:NM_153483:exon2:c.C140T:p.A47V
3 9952706 1 IL17RE A G exonic synonymous SNV IL17RE:NM_153481:exon7:c.A612G:p.T204T,IL17RE:NM_001193380:exon9:c.A960G:p.T320T,IL17RE:NM_153480:exon9:c.A960G:p.T320T,IL17RE:NM_153483:exon10:c.A1080G:p.T360T RS279572 Spine bone mineral density (BMD):Total cholesterol:Rheumatoid arthritis:HDL cholesterol:Gene expression of TTLL3 in blood:Gene expression of CRELD1///PRRT3 in blood:Serum ratio of (2-hydroxystearate)/(3-methoxytyrosine):Birth weight
3 9957455 1 IL17RE C T exonic synonymous SNV IL17RE:NM_153481:exon14:c.C1620T:p.L540L,IL17RE:NM_153480:exon16:c.C1968T:p.L656L,IL17RE:NM_153483:exon17:c.C2088T:p.L696L RS1056286 Gene expression of JAGN1 (ENSG00000171135) in dendritic cells
3 9960070 1 IL17RC C T exonic nonsynonymous SNV IL17RC:NM_001203263:exon4:c.C332T:p.S111L,IL17RC:NM_001203264:exon4:c.C332T:p.S111L,IL17RC:NM_001203265:exon4:c.C332T:p.S111L,IL17RC:NM_032732:exon4:c.C332T:p.S111L,IL17RC:NM_153460:exon4:c.C332T:p.S111L,IL17RC:NM_153461:exon4:c.C545T:p.S182L RS708567 Total cholesterol:Rheumatoid arthritis:HDL cholesterol:Height:Serum ratio of (gamma-glutamylisoleucine*)/(p-cresol sulfate):Birth weight
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 9970158 1 IL17RC C T exonic synonymous SNV IL17RC:NM_001203265:exon10:c.C1002T:p.N334N,IL17RC:NM_032732:exon10:c.C1002T:p.N334N,IL17RC:NM_001203263:exon11:c.C1047T:p.N349N,IL17RC:NM_001203264:exon11:c.C1047T:p.N349N,IL17RC:NM_153460:exon11:c.C1047T:p.N349N,IL17RC:NM_153461:exon11:c.C1260T:p.N420N RS279548 Gene expression change of CIDEC (ENSG00000187288) in dendritic cells after treatment with Mycobacterium tuberculosis
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 10967739 2 SLC6A11 T C exonic synonymous SNV SLC6A11:NM_014229:exon9:c.T1170C:p.P390P RS2272395 Total cholesterol:Rheumatoid arthritis
3 10976876 2 SLC6A11 A G exonic synonymous SNV SLC6A11:NM_014229:exon13:c.A1737G:p.T579T RS2245532 LDL cholesterol:Total cholesterol:LDL cholesterol:Total cholesterol
3 11400019 1 ATG7 T C exonic nonsynonymous SNV ATG7:NM_001144912:exon12:c.T1295C:p.V432A,ATG7:NM_001349236:exon12:c.T1295C:p.V432A,ATG7:NM_001349237:exon12:c.T1253C:p.V418A,ATG7:NM_001349238:exon12:c.T479C:p.V160A,ATG7:NM_001136031:exon13:c.T1412C:p.V471A,ATG7:NM_006395:exon13:c.T1412C:p.V471A,ATG7:NM_001349233:exon14:c.T1412C:p.V471A,ATG7:NM_001349234:exon14:c.T1412C:p.V471A,ATG7:NM_001349235:exon14:c.T1412C:p.V471A,ATG7:NM_001349232:exon15:c.T1412C:p.V471A
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 12962074 1 IQSEC1 G A exonic nonsynonymous SNV IQSEC1:NM_001134382:exon6:c.C1876T:p.P626S,IQSEC1:NM_001330619:exon6:c.C1552T:p.P518S,IQSEC1:NM_014869:exon6:c.C1918T:p.P640S
3 13361287 1 NUP210 C T exonic nonsynonymous SNV NUP210:NM_024923:exon37:c.G5359A:p.V1787M RS354478 Eye color:HDL cholesterol:Microalbuminuria:Serum concentration of indoleacetate
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 13364876 1 NUP210 G T exonic synonymous SNV NUP210:NM_024923:exon34:c.C4701A:p.T1567T RS514084 Differential splicing of NUP210 [probeset 2663554] in lymphoblastoid cell lines
3 13367406 1 NUP210 C T exonic synonymous SNV NUP210:NM_024923:exon33:c.G4533A:p.S1511S RS665064 Differential splicing of NUP210 [probeset 2663554] in lymphoblastoid cell lines:HDL cholesterol:LDL cholesterol:HOMA-IR:HDL cholesterol:Body mass index (BMI):Microalbuminuria
3 13368892 1 NUP210 G A exonic synonymous SNV NUP210:NM_024923:exon32:c.C4332T:p.C1444C RS2271509 Differential splicing of NUP210 [probeset 2663554] in lymphoblastoid cell lines:HDL cholesterol:HDL cholesterol:Body mass index (BMI):Microalbuminuria
3 13379400 1 NUP210 C T exonic synonymous SNV NUP210:NM_024923:exon26:c.G3489A:p.E1163E RS3773302 Gene expression of NUP210 (ENSG00000132182) in dendritic cells
3 13383540 1 NUP210 A G exonic synonymous SNV NUP210:NM_024923:exon22:c.T3048C:p.F1016F RS2271504 Differential splicing of NUP210 [probeset 2663554] in lymphoblastoid cell lines:HDL cholesterol:LDL cholesterol:HDL cholesterol:Body mass index (BMI):Microalbuminuria
3 13395475 1 NUP210 G C exonic nonsynonymous SNV NUP210:NM_024923:exon17:c.C2461G:p.P821A RS2280085 Adiponectin levels
3 13395579 1 NUP210 C A exonic nonsynonymous SNV NUP210:NM_024923:exon17:c.G2357T:p.R786L RS2280084 Eye color:LDL cholesterol:HDL cholesterol:HDL cholesterol:Body mass index (BMI):Microalbuminuria:Serum ratio of (5-oxoproline)/(stearoylcarnitine):Resistance to kuru in aged women despite likely exposure:Schizophrenia
3 13407556 1 NUP210 T C exonic nonsynonymous SNV NUP210:NM_024923:exon14:c.A1822G:p.I608V RS3732671 Differential splicing of NUP210 [probeset 2663554] in lymphoblastoid cell lines:HDL cholesterol:LDL cholesterol:HDL cholesterol:Body mass index (BMI):Microalbuminuria
3 13421150 1 NUP210 C T exonic nonsynonymous SNV NUP210:NM_024923:exon7:c.G889A:p.A297T RS7628051 Eye color:Differential splicing of NUP210 [probeset 2663554] in lymphoblastoid cell lines:HDL cholesterol:LDL cholesterol:Body mass index (BMI):Microalbuminuria:Resistance to kuru in aged women despite likely exposure
3 14187449 1 XPC G T exonic nonsynonymous SNV XPC:NM_004628:exon16:c.C2815A:p.Q939K RS2228001 Stabilized warfarin dose:Serum creatinine:Serum concentration of 1-palmitoylglycerophosphoethanolamine
3 14197987 2 XPC A T exonic synonymous SNV XPC:NM_004628:exon10:c.T1881A:p.A627A
3 14199887 1 XPC G A exonic nonsynonymous SNV XPC:NM_004628:exon9:c.C1496T:p.A499V RS2228000 Tardive dyskinesia:Abnormal Involuntary Movement Scale:Rheumatoid arthritis:Microalbuminuria
3 15737689 2 ANKRD28 G A exonic synonymous SNV ANKRD28:NM_001195099:exon13:c.C1059T:p.N353N,ANKRD28:NM_001349280:exon14:c.C1353T:p.N451N,ANKRD28:NM_001195098:exon15:c.C1059T:p.N353N,ANKRD28:NM_001349277:exon15:c.C1620T:p.N540N,ANKRD28:NM_001349278:exon15:c.C1611T:p.N537N,ANKRD28:NM_001349281:exon15:c.C1353T:p.N451N,ANKRD28:NM_001349282:exon15:c.C1353T:p.N451N,ANKRD28:NM_001349283:exon15:c.C1059T:p.N353N,ANKRD28:NM_015199:exon15:c.C1521T:p.N507N,ANKRD28:NM_001349279:exon16:c.C1512T:p.N504N
3 15737698 2 ANKRD28 T C exonic synonymous SNV ANKRD28:NM_001195099:exon13:c.A1050G:p.Q350Q,ANKRD28:NM_001349280:exon14:c.A1344G:p.Q448Q,ANKRD28:NM_001195098:exon15:c.A1050G:p.Q350Q,ANKRD28:NM_001349277:exon15:c.A1611G:p.Q537Q,ANKRD28:NM_001349278:exon15:c.A1602G:p.Q534Q,ANKRD28:NM_001349281:exon15:c.A1344G:p.Q448Q,ANKRD28:NM_001349282:exon15:c.A1344G:p.Q448Q,ANKRD28:NM_001349283:exon15:c.A1050G:p.Q350Q,ANKRD28:NM_015199:exon15:c.A1512G:p.Q504Q,ANKRD28:NM_001349279:exon16:c.A1503G:p.Q501Q RS2470549 Gene expression of ANKRD28 [probe 229307_at] in lymphoblastoid cell lines:Fasting insulin:HOMA-IR:HOMA-B:Cystatin C in serum:Gene expression of COLQ in blood:Serum ratio of (dehydroisoandrosterone sulfate (DHEA-S))/(epiandrosterone sulfate):Birth weight
3 19992432 2 RAB5A G T exonic synonymous SNV RAB5A:NM_001292048:exon2:c.G42T:p.T14T,RAB5A:NM_004162:exon2:c.G42T:p.T14T
3 25642676 1 TOP2B G T exonic synonymous SNV TOP2B:NM_001068:exon34:c.C4515A:p.A1505A,TOP2B:NM_001330700:exon34:c.C4530A:p.A1510A
3 31789582 1 OSBPL10 T C exonic nonsynonymous SNV OSBPL10:NM_001174060:exon4:c.A568G:p.N190D,OSBPL10:NM_017784:exon5:c.A760G:p.N254D RS2290532 Fasting blood glucose:Late onset Alzheimer's disease:Serum ratio of (1-palmitoylglycerol (1-monopalmitin))/(taurodeoxycholate):Serum ratio of (alpha-hydroxyisovalerate)/(cysteine-glutathione disulfide)
3 32927509 2 TRIM71 G T exonic synonymous SNV TRIM71:NM_001039111:exon3:c.G1104T:p.T368T
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 33059981 1 GLB1 G A exonic nonsynonymous SNV GLB1:NM_001135602:exon10:c.C913T:p.L305F,GLB1:NM_000404:exon13:c.C1306T:p.L436F,GLB1:NM_001079811:exon13:c.C1216T:p.L406F,GLB1:NM_001317040:exon14:c.C1450T:p.L484F
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 33138549 1 GLB1 G A exonic nonsynonymous SNV GLB1:NM_000404:exon1:c.C29T:p.P10L,GLB1:NM_001135602:exon1:c.C29T:p.P10L,GLB1:NM_001317040:exon1:c.C29T:p.P10L RS7637099 Differential exon level expression of CRTAP [probe 2616183] in peripheral blood mononuclear cells:Fasting blood glucose:HDL cholesterol:LDL cholesterol change with statins:Methylation levels at chr3:33114052-33114102 [hg18 coord, probe cg27034836] in Frontal cortex:Serum ratio of (linolenate [alpha or gamma; (18:3n3 or 6)])/(tetradecanedioate):Resistance to kuru in aged women despite likely exposure:Gene expression of TMPPE in normal prepouch ileum
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 33458266 1 UBP1 T C exonic nonsynonymous SNV UBP1:NM_001128160:exon3:c.A326G:p.N109S,UBP1:NM_014517:exon3:c.A326G:p.N109S,UBP1:NM_001128161:exon4:c.A326G:p.N109S RS3736563 Longstanding arthritis:Differential exon level expression of UBP1 [probe 2668396] in brain cortex:Lp-PLA2 mass:Neuroblastoma (brain cancer):Serum ratio of (glycochenodeoxycholate)/(glycodeoxycholate):Diastolic blood pressure (DBP):Systolic blood pressure (SBP):PROP taste detection threshold:Hypertension (early onset hypertension)
3 38170810 1 ACAA1 C G exonic nonsynonymous SNV ACAA1:NM_001607:exon6:c.G516C:p.E172D RS156265 LDL cholesterol
3 38401839 2 XYLB T C exonic synonymous SNV XYLB:NM_001349178:exon3:c.T150C:p.G50G,XYLB:NM_005108:exon3:c.T150C:p.G50G
3 39184959 2 CSRNP1 C T exonic nonsynonymous SNV CSRNP1:NM_001320559:exon5:c.G1417A:p.V473I,CSRNP1:NM_001320560:exon5:c.G1357A:p.V453I,CSRNP1:NM_033027:exon5:c.G1357A:p.V453I RS1274958 Gene expression of KIAA1449 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of WDR48 [probe 221735_at] in lymphoblastoid cell lines:Arthritis including non-Rheumatoid:Gene expression of WDR48 in blood cells in Celiac disease:Gene expression of WDR48 [probe ILMN_15679] in osteoblasts:Gene expression of WDR48 in Cerebellum:Gene expression of WDR48 in Frontal cortex:Gene expression of WDR48 in Temporal cortex:Gene expression of WDR48 in Caudal pons:Gene expression of WDR48 in CD4+ lymphocytes:Asthma:Gene expression of WDR48 [probe ILMN_15679] in osteoblasts treated with BMP2:Gene expression of CX3CR1 in blood:Gene expression of WDR48///GORASP1 in blood:Gene expression of WDR48 in liver:Gene expression of WDR48 (probeID ILMN_1762103) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of WDR48 (probeID ILMN_1762103) in cerebellum in non-Alzheimer's disease samples:Gene expression of WDR48 (probeID ILMN_1762103) in cerebellum in Alzheimer's disease cases and controls:Gene expression of WDR48 (probeID ILMN_1762103) in cerebellum in Alzheimer's disease cases:Hypertension (early onset hypertension):Gene expression of WDR48 (probeID ILMN_1762103) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of WDR48 (probeID ILMN_1762103) in temporal cortex in Alzheimer's disease cases:Adiponectin levels:Gene expression of WDR48 (probeID ILMN_1762103) in cerebellum in Progressive Supranuclear Palsy cases
3 39185248 2 CSRNP1 A G exonic synonymous SNV CSRNP1:NM_001320559:exon5:c.T1128C:p.S376S,CSRNP1:NM_001320560:exon5:c.T1068C:p.S356S,CSRNP1:NM_033027:exon5:c.T1068C:p.S356S RS784519 Gene expression of WDR48 (probeID ILMN_1762103) in cerebellum in Alzheimer's disease cases and controls:Gene expression of WDR48 (probeID ILMN_1762103) in temporal cortex in Alzheimer's disease cases and controls:Adiponectin levels:Gene expression of WDR48 (probeID ILMN_1762103) in whole blood
3 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 42244083 1 TRAK1 C T exonic nonsynonymous SNV TRAK1:NM_001265609:exon12:c.C1361T:p.A454V,TRAK1:NM_001265610:exon12:c.C1361T:p.A454V,TRAK1:NM_001349248:exon12:c.C1361T:p.A454V,TRAK1:NM_001349249:exon12:c.C1361T:p.A454V,TRAK1:NM_014965:exon12:c.C1409T:p.A470V,TRAK1:NM_001042646:exon13:c.C1583T:p.A528V,TRAK1:NM_001265608:exon13:c.C1583T:p.A528V,TRAK1:NM_001349245:exon13:c.C1271T:p.A424V,TRAK1:NM_001349246:exon13:c.C1583T:p.A528V,TRAK1:NM_001349247:exon13:c.C1583T:p.A528V
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 43345175 1 SNRK G A exonic synonymous SNV SNRK:NM_001100594:exon2:c.G480A:p.G160G,SNRK:NM_017719:exon3:c.G480A:p.G160G RS17406308 HDL cholesterol
3 43602803 2 ANO10 C T exonic nonsynonymous SNV ANO10:NM_001204833:exon7:c.G1052A:p.R351Q,ANO10:NM_001204832:exon8:c.G1187A:p.R396Q,ANO10:NM_001204834:exon8:c.G815A:p.R272Q,ANO10:NM_001346466:exon8:c.G1187A:p.R396Q,ANO10:NM_001346469:exon8:c.G1187A:p.R396Q,ANO10:NM_001204831:exon9:c.G1385A:p.R462Q,ANO10:NM_001346463:exon9:c.G1385A:p.R462Q,ANO10:NM_001346464:exon9:c.G1385A:p.R462Q,ANO10:NM_001346465:exon9:c.G1385A:p.R462Q,ANO10:NM_001346467:exon9:c.G1385A:p.R462Q,ANO10:NM_001346468:exon9:c.G1385A:p.R462Q,ANO10:NM_018075:exon9:c.G1385A:p.R462Q RS3772165 HDL cholesterol:Serum creatinine:Triglycerides:Parkinson's disease
3 44611913 1 ZKSCAN7 A G exonic synonymous SNV ZKSCAN7:NM_001288592:exon5:c.A858G:p.K286K,ZKSCAN7:NM_001288590:exon6:c.A1311G:p.K437K,ZKSCAN7:NM_018651:exon6:c.A1311G:p.K437K
3 44884647 2 KIF15 C A exonic nonsynonymous SNV KIF15:NM_020242:exon30:c.C3616A:p.L1206M RS3804583 Irritible bowel syndrome:Gene expression of ZNF197 in peripheral blood monocytes:Gene expression of ZNF167 in peripheral blood monocytes:Gene expression of ZNF502 in peripheral blood monocytes:Gene expression of TMEM42 in peripheral blood monocytes:Total cholesterol:Late onset Alzheimer's disease:Gene expression of ZNF502 in blood:Serum ratio of (acetylcarnitine)/(gamma-glutamylisoleucine*):Gene expression of ZNF167 in normal prepouch ileum:Gene expression of ZNF502 in normal prepouch ileum
3 45052775 1 EXOSC7 G C exonic nonsynonymous SNV EXOSC7:NM_015004:exon8:c.G820C:p.V274L RS6794 Gene expression of KIAA0116 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:LDL cholesterol:Triglycerides:Handedness in individuals with dyslexia (PegQ test):Alanine/N,N-dimethylglycine ratio
3 45527218 2 LARS2 T C exonic synonymous SNV LARS2:NM_015340:exon11:c.T1053C:p.L351L RS7610357 Triglycerides
3 45533224 2 LARS2 G A exonic synonymous SNV LARS2:NM_015340:exon13:c.G1455A:p.A485A RS2128361 Irritible bowel syndrome:Transmission distortion:Maternal transmission distortion
3 45559519 2 LARS2 T C exonic synonymous SNV LARS2:NM_015340:exon18:c.T2169C:p.A723A RS2170549 Adiponectin levels
3 45565554 2 LARS2 A G exonic synonymous SNV LARS2:NM_015340:exon20:c.A2358G:p.V786V
3 45637239 1 LIMD1 G T exonic nonsynonymous SNV LIMD1:NM_014240:exon1:c.G868T:p.V290F
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 46009864 1 FYCO1 C G exonic nonsynonymous SNV FYCO1:NM_024513:exon8:c.G962C:p.G321A
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 47036756 1 NBEAL2 C G exonic nonsynonymous SNV NBEAL2:NM_015175:exon13:c.C1531G:p.R511G RS11720139 Gene expression of KLHL18 [probe 1557165_s_at] in lymphoblastoid cell lines:Total cholesterol:Alanine/N,N-dimethylglycine ratio:Adiponectin levels
3 47038054 1 NBEAL2 G A exonic synonymous SNV NBEAL2:NM_015175:exon16:c.G2445A:p.A815A
3 47043238 1 NBEAL2 C T exonic synonymous SNV NBEAL2:NM_015175:exon30:c.C4704T:p.N1568N RS12489851 HDL cholesterol:Aortic valve calcium
3 47043622 1 NBEAL2 G A exonic synonymous SNV NBEAL2:NM_015175:exon31:c.G4995A:p.V1665V RS2305635 Total cholesterol:HDL cholesterol:Alanine/N,N-dimethylglycine ratio:Adiponectin levels
3 47049345 1 NBEAL2 A G exonic nonsynonymous SNV NBEAL2:NM_015175:exon49:c.A7547G:p.Y2516C
3 47162661 1 SETD2 A G exonic synonymous SNV SETD2:NM_001349370:exon2:c.T3333C:p.N1111N,SETD2:NM_014159:exon3:c.T3465C:p.N1155N RS6767907 Gene expression of DHX30 in JPT lymphoblastoid cell lines:Neuroticism:Total cholesterol:HDL cholesterol:Alanine/N,N-dimethylglycine ratio:Serum ratio of (1-methylurate)/(arabinose):Systolic blood pressure (SBP):Bipolar disorder:Adiponectin levels
3 47162886 1 SETD2 C T exonic nonsynonymous SNV SETD2:NM_001349370:exon2:c.G3108A:p.M1036I,SETD2:NM_014159:exon3:c.G3240A:p.M1080I
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 47452118 1 PTPN23 G A exonic nonsynonymous SNV PTPN23:NM_001304482:exon19:c.G2452A:p.A818T,PTPN23:NM_015466:exon20:c.G2830A:p.A944T RS6780013 Gene expression of KLHL18 [probe 1557165_s_at] in lymphoblastoid cell lines:Total cholesterol:HDL cholesterol:Gene expression of KIF9 [transcript NM_182902, probe A_24_P225878] in liver:Gene expression of PTPN23///SCAP in blood:Serum ratio of (4-vinylphenol sulfate)/(cysteine-glutathione disulfide):Adiponectin levels:Gene expression of PTPN23 (ENSG00000076201) in dendritic cells treated with Mycobacterium tuberculosis
3 47453417 1 PTPN23 C T exonic nonsynonymous SNV PTPN23:NM_001304482:exon20:c.C3655T:p.R1219C,PTPN23:NM_015466:exon21:c.C4033T:p.R1345C
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 48309812 1 ZNF589 G A exonic nonsynonymous SNV ZNF589:NM_016089:exon4:c.G631A:p.G211R
3 48456706 1 PLXNB1 G A exonic nonsynonymous SNV PLXNB1:NM_001130082:exon20:c.C3845T:p.T1282M,PLXNB1:NM_002673:exon20:c.C3845T:p.T1282M
3 48461313 1 PLXNB1 C G exonic synonymous SNV PLXNB1:NM_001130082:exon11:c.G2382C:p.P794P,PLXNB1:NM_002673:exon11:c.G2382C:p.P794P RS2362450 LDL cholesterol change with statins:Total cholesterol change with statins:Serum creatinine:Triglycerides:Waist hip ratio
3 48474249 1 CCDC51 A G exonic synonymous SNV CCDC51:NM_001256964:exon4:c.T805C:p.L269L,CCDC51:NM_001256965:exon4:c.T478C:p.L160L,CCDC51:NM_001256966:exon4:c.T478C:p.L160L,CCDC51:NM_001256967:exon4:c.T478C:p.L160L,CCDC51:NM_001256968:exon4:c.T478C:p.L160L,CCDC51:NM_001256969:exon4:c.T478C:p.L160L,CCDC51:NM_024661:exon4:c.T805C:p.L269L RS2279077 HDL cholesterol:Fasting blood glucose:LDL cholesterol change with statins:Total cholesterol change with statins:Parkinson's disease:Gene expression of CCDC72 in normal prepouch ileum
3 48476431 2 CCDC51 C G exonic synonymous SNV CCDC51:NM_001256964:exon2:c.G108C:p.L36L,CCDC51:NM_024661:exon2:c.G108C:p.L36L
3 48625266 2 COL7A1 T C exonic synonymous SNV COL7A1:NM_000094:exon21:c.A2817G:p.P939P RS1264194 Total cholesterol:Waist hip ratio:Aortic valve calcium:Years of education:Adiponectin levels
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 49050922 1 WDR6 A G exonic nonsynonymous SNV WDR6:NM_001320546:exon2:c.A1877G:p.N626S,WDR6:NM_001320547:exon2:c.A1802G:p.N601S,WDR6:NM_018031:exon2:c.A2045G:p.N682S
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 49161660 1 LAMB2 T C exonic synonymous SNV LAMB2:NM_002292:exon23:c.A3387G:p.Q1129Q
3 49162284 1 LAMB2 C T exonic nonsynonymous SNV LAMB2:NM_002292:exon21:c.G2959A:p.E987K
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 49339833 1 USP4 T C exonic nonsynonymous SNV USP4:NM_199443:exon9:c.A1130G:p.N377S,USP4:NM_003363:exon10:c.A1271G:p.N424S
3 49394834 1 GPX1 G A exonic nonsynonymous SNV GPX1:NM_001329455:exon2:c.C461T:p.P154L
3 49455330 1 AMT C T exonic synonymous SNV AMT:NM_001164710:exon7:c.G822A:p.R274R,AMT:NM_001164711:exon7:c.G786A:p.R262R,AMT:NM_000481:exon8:c.G954A:p.R318R,AMT:NM_001164712:exon8:c.G954A:p.R318R RS11715915 Crohn's disease, combined control dataset:Irritible bowel syndrome:PC aa C42:2:PC aa C40:2 / Tyr-PTC:HOMA-IR:Fasting insulin:Fasting blood glucose:Total cholesterol:Serum creatinine:Gene expression of APEH in peripheral blood monocytes:Gene expression of CAMSAP1 in peripheral blood monocytes:Gene expression of USP4 in peripheral blood monocytes:Gene expression of ATRIP in peripheral blood monocytes:Gene expression of NICN1 in peripheral blood monocytes:Gene expression of GPX1 in peripheral blood monocytes:Gene expression of UBA7 in peripheral blood monocytes:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):College completion:Coronary artery disease (CAD):Fasting insulin:Years of education:Fasting blood glucose:2-hour glucose tolerance test
3 49459553 1 AMT A G exonic nonsynonymous SNV AMT:NM_000481:exon2:c.T242C:p.V81A,AMT:NM_001164710:exon2:c.T242C:p.V81A,AMT:NM_001164712:exon2:c.T242C:p.V81A
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 49570200 1 DAG1 C T exonic synonymous SNV DAG1:NM_001177639:exon3:c.C2256T:p.H752H,DAG1:NM_001177643:exon3:c.C2256T:p.H752H,DAG1:NM_001177644:exon3:c.C2256T:p.H752H,DAG1:NM_004393:exon3:c.C2256T:p.H752H,DAG1:NM_001177635:exon4:c.C2256T:p.H752H,DAG1:NM_001177637:exon4:c.C2256T:p.H752H,DAG1:NM_001177638:exon4:c.C2256T:p.H752H,DAG1:NM_001177640:exon4:c.C2256T:p.H752H,DAG1:NM_001177641:exon4:c.C2256T:p.H752H,DAG1:NM_001177642:exon4:c.C2256T:p.H752H,DAG1:NM_001177636:exon5:c.C2256T:p.H752H,DAG1:NM_001165928:exon6:c.C2256T:p.H752H,DAG1:NM_001177634:exon6:c.C2256T:p.H752H RS1801143 Crohn's disease, combined control dataset:Irritible bowel syndrome:Biploar disorder (bipolar schizoaffective disorder):HOMA-IR:Fasting blood glucose:Fasting insulin:Total cholesterol:LDL cholesterol:Gene expression of GPX1 [probe 200736_s_at] in prefrontal cortex:Serum creatinine:Gene expression of APEH in peripheral blood monocytes:Gene expression of USP4 in peripheral blood monocytes:Gene expression of GPX1 in peripheral blood monocytes:Gene expression of UBA7 in peripheral blood monocytes:Gene expression of ATRIP in peripheral blood monocytes:Gene expression of NICN1 in peripheral blood monocytes:Gene expression of RBM6 in peripheral blood monocytes:Serum concentration of inosine:Systolic blood pressure (SBP):Birth weight:Maternal transmission distortion:College completion:Years of education
3 49721532 1 MST1 G A exonic nonsynonymous SNV MST1:NM_020998:exon18:c.C2107T:p.R703C RS3197999 Eye color:Irritible bowel syndrome:Crohn's disease:Differential exon level expression of APEH [probe 2622214] in peripheral blood mononuclear cells:Differential exon level expression of APEH [probe 2622214] in brain cortex:Differential exon level expression of BSN [probe 2622187] in brain cortex:Premature ovarian failure:Irritable bowel disorder:Ulcerative colitis:Crohn's disease:Primary sclerosing cholangitis (with inflammatory bowel disease):Primary sclerosing cholangitis:HOMA-IR:Fasting blood glucose:Asthma:Ulcerative colitis:Ulcerative colitis:Total cholesterol:Serum creatinine:Cardiac neonatal lupus:Selective immunoglobulin A deficiency (IgAD):Crohn's disease:Crohn's disease:Primary sclerosing cholangitis:Crohn's disease:Ulcerative colitis:MST1 gene expression in subcutaneous adipose tissue:Gene expression of C3orf54///UBA7 in blood:Gene expression of MST1///APEH in blood:Gene expression of RNF123///AMIGO3///GMPPB in blood:Gene expression of IGFBP7 in normal prepouch ileum:Gene expression of VPS37C in normal prepouch ileum:Gene expression of RAD23A in normal prepouch ileum:Gene expression of WDR12 in normal prepouch ileum:Gene expression of CTNND1 in normal prepouch ileum:Gene expression of FBXO36 in normal prepouch ileum:Gene expression of THG1L in normal prepouch ileum:Gene expression of CCDC27 in normal prepouch ileum:Gene expression of UXS1 in normal prepouch ileum:Gene expression of MEIS3 in normal prepouch ileum:Gene expression of NR2E3 in normal prepouch ileum:Gene expression of DENND5A in normal prepouch ileum:Gene expression of CAMK2A in normal prepouch ileum:Gene expression of C21orf33 in normal prepouch ileum:Gene expression of DPH2 in normal prepouch ileum:Gene expression of ACSBG2 in normal prepouch ileum:Gene expression of THTPA in normal prepouch ileum:Gene expression of METTL13 in normal prepouch ileum:Gene expression of C1orf109 in normal prepouch ileum:Gene expression of UBE2Q2 in normal prepouch ileum:Gene expression of SERPINA6 in normal prepouch ileum:Gene expression of DSG1 in normal prepouch ileum:Gene expression of SSBP1 in normal prepouch ileum:Gene expression of PPM1F in normal prepouch ileum:Gene expression of VWA1 in normal prepouch ileum:Gene expression of OR7E14P in normal prepouch ileum:Gene expression of COMMD7 in normal prepouch ileum:Gene expression of TAL2 in normal prepouch ileum:Gene expression of PPARD in normal prepouch ileum:Gene expression of AFAP1L1 in normal prepouch ileum:Gene expression of FAM75D5 in normal prepouch ileum:Gene expression of MYOG in normal prepouch ileum:College completion:Gene expression of LHB in normal prepouch ileum:Gene expression of FOXQ1 in normal prepouch ileum:Gene expression of DMRT2 in normal prepouch ileum:Gene expression of M6PR in normal prepouch ileum:Gene expression of ARL6IP5 in normal prepouch ileum:Gene expression of IQUB in normal prepouch ileum:Gene expression of C14orf21 in normal prepouch ileum:Gene expression of SPATA21 in normal prepouch ileum:Gene expression of BCAP29 in normal prepouch ileum:Gene expression of UBA2 in normal prepouch ileum:Gene expression of SBSN in normal prepouch ileum:Gene expression of ANKRD30BL in normal prepouch ileum:Gene expression of ZNF541 in normal prepouch ileum:Gene expression of ZNF843 in normal prepouch ileum:Gene expression of C16orf88 in normal prepouch ileum:Gene expression of CSRP1 in normal prepouch ileum:Gene expression of KCNK12 in normal prepouch ileum:Gene expression of LRFN2 in normal prepouch ileum:Gene expression of DOC2B in normal prepouch ileum:Gene expression of RPL22 in normal prepouch ileum:Gene expression of MYH16 in normal prepouch ileum:Gene expression of INTS10 in normal prepouch ileum:Gene expression of C19orf26 in normal prepouch ileum:Gene expression of MGC16703 in normal prepouch ileum:Gene expression of ASB15 in normal prepouch ileum:Gene expression of SPON2 in normal prepouch ileum:Gene expression of IDH3B in normal prepouch ileum:Gene expression of SLC30A3 in normal prepouch ileum:Gene expression of C1orf216 in normal prepouch ileum:Gene expression of NOS1AP in normal prepouch ileum:Gene expression of MOV10L1 in normal prepouch ileum:Gene expression of SLC38A4 in normal prepouch ileum:Gene expression of KLF4 in normal prepouch ileum:Gene expression of MEOX1 in normal prepouch ileum:Gene expression of FAM20C in normal prepouch ileum:Gene expression of ATP6AP1L in normal prepouch ileum:Gene expression of CABP2 in normal prepouch ileum:Gene expression of C9orf30 in normal prepouch ileum:Gene expression of SHROOM1 in normal prepouch ileum:Gene expression of KIAA0319 in normal prepouch ileum:Inflammatory bowel disease:Gene expression of FOLR2 in normal prepouch ileum:Gene expression of ZNF646 in normal prepouch ileum:Gene expression of CLEC1B in normal prepouch ileum:Gene expression of KIAA1524 in normal prepouch ileum:Gene expression of KCNH1 in normal prepouch ileum:Gene expression of KRT2 in normal prepouch ileum:Gene expression of OLFM1 in normal prepouch ileum:Gene expression of CYP21A2 in normal prepouch ileum:Gene expression of BPIL2 in normal prepouch ileum:Gene expression of DCAF5 in normal prepouch ileum:Gene expression of WDR66 in normal prepouch ileum:Gene expression of C8orf22 in normal prepouch ileum:Gene expression of OR4D11 in normal prepouch ileum:Gene expression of C7orf34 in normal prepouch ileum:Gene expression of FBXO5 in normal prepouch ileum:Gene expression of FER1L6 in normal prepouch ileum:Gene expression of MYO7A in normal prepouch ileum:Gene expression of SERPINB13 in normal prepouch ileum:Gene expression of FSCN1 in normal prepouch ileum:Gene expression of OVGP1 in normal prepouch ileum:Gene expression of PLEKHG4B in normal prepouch ileum:Gene expression of PCP2 in normal prepouch ileum:Gene expression of RAB42 in normal prepouch ileum:Gene expression of MRPS18B in normal prepouch ileum:Gene expression of RPUSD4 in normal prepouch ileum:Gene expression of TFAM in normal prepouch ileum:Gene expression of EID1 in normal prepouch ileum:Gene expression of USP13 in normal prepouch ileum:Gene expression of ZNF200 in normal prepouch ileum:Gene expression of SLCO5A1 in normal prepouch ileum:Gene expression of DNAH10 in normal prepouch ileum:Gene expression of OR3A4 in normal prepouch ileum:Gene expression of OR5AN1 in normal prepouch ileum:Gene expression of CECR2 in normal prepouch ileum:Gene expression of DDIT4 in normal prepouch ileum:Gene expression of STELLAR in normal prepouch ileum:Gene expression of PPP1R15B in normal prepouch ileum:Gene expression of SMCR5 in normal prepouch ileum:Gene expression of TMEM90A in normal prepouch ileum:Gene expression of BZW2 in normal prepouch ileum:Gene expression of QPCT in normal prepouch ileum:Gene expression of PRMT8 in normal prepouch ileum:Gene expression of GABRA6 in normal prepouch ileum:Gene expression of ISM2 in normal prepouch ileum:Gene expression of BRD1 in normal prepouch ileum:Gene expression of RNF144B in normal prepouch ileum:Gene expression of CLRN2 in normal prepouch ileum:Gene expression of HERC2 in normal prepouch ileum:Gene expression of ADAMTSL3 in normal prepouch ileum:Gene expression of C10orf32 in normal prepouch ileum:Gene expression of MIR205 in normal prepouch ileum:Gene expression of ATG12 in normal prepouch ileum:Gene expression of MRPS35 in normal prepouch ileum:Gene expression of ORC5 in normal prepouch ileum:Gene expression of MAMDC4 in normal prepouch ileum:Gene expression of OR4H12P in normal prepouch ileum:Gene expression of FAM78B in normal prepouch ileum:Gene expression of RAD1 in normal prepouch ileum:Gene expression of LYZL4 in normal prepouch ileum:Gene expression of BHMT in normal prepouch ileum:Gene expression of CAMTA2 in normal prepouch ileum:Gene expression of C1QTNF8 in normal prepouch ileum:Gene expression of SUMO2 in normal prepouch ileum:Gene expression of KIAA1614 in normal prepouch ileum:Gene expression of KCNA10 in normal prepouch ileum:Gene expression of CDKL3 in normal prepouch ileum:Gene expression of C11orf30 in normal prepouch ileum:Gene expression of SLFNL1 in normal prepouch ileum:Gene expression of OR10G7 in normal prepouch ileum:Gene expression of SLC41A3 in normal prepouch ileum:Gene expression of PAPOLB in normal prepouch ileum:Gene expression of VPS25 in normal prepouch ileum:Gene expression of ACP1 in normal prepouch ileum:Gene expression of NCR2 in normal prepouch ileum:Gene expression of IGFL2 in normal prepouch ileum:Gene expression of C19orf42 in normal prepouch ileum:Gene expression of EPB42 in normal prepouch ileum:Gene expression of SNORD49A in normal prepouch ileum:Gene expression of DNASE2 in normal prepouch ileum:Gene expression of DEFB123 in normal prepouch ileum:Gene expression of MND1 in normal prepouch ileum:Gene expression of OR2Z1 in normal prepouch ileum:Gene expression of SNORA70G in normal prepouch ileum:Gene expression of FXC1 in normal prepouch ileum:Gene expression of MGLL in normal prepouch ileum:Gene expression of VPS72 in normal prepouch ileum:Gene expression of FLJ32154 in normal prepouch ileum:Gene expression of HMBS in normal prepouch ileum:Gene expression of SF3B4 in normal prepouch ileum:Gene expression of C12orf69 in normal prepouch ileum:Gene expression of GORASP1 in normal prepouch ileum:Primary sclerosing cholangitis:Gene expression of MRPS21 in normal prepouch ileum:Gene expression of CPA1 in normal prepouch ileum:Gene expression of DEFB124 in normal prepouch ileum:Gene expression of GPR149 in normal prepouch ileum:Gene expression of GUSB in normal prepouch ileum:Gene expression of C5orf44 in normal prepouch ileum:Gene expression of KIAA1755 in normal prepouch ileum:Gene expression of IMPA2 in normal prepouch ileum:Gene expression of TMEM208 in normal prepouch ileum:Gene expression of ZNF582 in normal prepouch ileum:Gene expression of COG1 in normal prepouch ileum:Gene expression of COMMD1 in normal prepouch ileum:Gene expression of LIN9 in normal prepouch ileum:Gene expression of PIP in normal prepouch ileum:Gene expression of RUNDC2A in normal prepouch ileum:Gene expression of OR2Y1 in normal prepouch ileum:Gene expression of OR52W1 in normal prepouch ileum:Gene expression of PRM3 in normal prepouch ileum:Gene expression of C7orf45 in normal prepouch ileum:Gene expression of SH2B2 in normal prepouch ileum:Gene expression of FAM99A in normal prepouch ileum:Gene expression of ZBTB7B in normal prepouch ileum:Gene expression of FSHR in normal prepouch ileum:Gene expression of C1orf57 in normal prepouch ileum:Gene expression of COL23A1 in normal prepouch ileum:Gene expression of RFPL2 in normal prepouch ileum:Gene expression of SNORD50A in normal prepouch ileum:Gene expression of MKS1 in normal prepouch ileum:Gene expression of MFSD6 in normal prepouch ileum:Gene expression of TNFRSF17 in normal prepouch ileum:Gene expression of DNAJC8 in normal prepouch ileum:Gene expression of MIR132 in normal prepouch ileum:Gene expression of CELA1 in normal prepouch ileum:Gene expression of PAFAH1B1 in normal prepouch ileum:Gene expression of LHFPL3 in normal prepouch ileum:Gene expression of NMT1 in normal prepouch ileum:Gene expression of ULK2 in normal prepouch ileum:Gene expression of CAMK1G in normal prepouch ileum:Gene expression of TPRKB in normal prepouch ileum:Gene expression of MRPL44 in normal prepouch ileum:Gene expression of FAM72D in normal prepouch ileum:Gene expression of MIR487A in normal prepouch ileum:Gene expression of ZNHIT3 in normal prepouch ileum:Gene expression of NETO2 in normal prepouch ileum:Gene expression of CLCN6 in normal prepouch ileum:Gene expression of STRA6 in normal prepouch ileum:Gene expression of ANKHD1-EIF4EBP3 in normal prepouch ileum:Gene expression of HAP1 in normal prepouch ileum:Gene expression of ADAMTSL5 in normal prepouch ileum:Gene expression of N4BP3 in normal prepouch ileum:Gene expression of KRTAP5-6 in normal prepouch ileum:Gene expression of TNFRSF11A in normal prepouch ileum:Gene expression of SLC17A3 in normal prepouch ileum:Gene expression of IL1RN in normal prepouch ileum:Gene expression of FLJ45079 in normal prepouch ileum:Gene expression of IFT122 in normal prepouch ileum:Gene expression of CDSN in normal prepouch ileum:Gene expression of TLR5 in normal prepouch ileum:Gene expression of LOC200261 in normal prepouch ileum:Gene expression of GNRHR in normal prepouch ileum:Salmonella-induced pyroptosis:Gene expression of FMO3 in normal prepouch ileum:Gene expression of KRTAP5-2 in normal prepouch ileum:Gene expression of OPALIN in normal prepouch ileum:Gene expression of TGM4 in normal prepouch ileum:Gene expression of XIRP2 in normal prepouch ileum:Gene expression of SKA2 in normal prepouch ileum:Gene expression of RGS20 in normal prepouch ileum:Gene expression of KRT27 in normal prepouch ileum:Gene expression of PAX2 in normal prepouch ileum:Gene expression of RAB38 in normal prepouch ileum:Gene expression of C21orf57 in normal prepouch ileum:Gene expression of GGNBP1 in normal prepouch ileum:Gene expression of MCF2L in normal prepouch ileum:Gene expression of TWIST1 in normal prepouch ileum:Gene expression of KRTAP1-3 in normal prepouch ileum:Gene expression of LANCL2 in normal prepouch ileum:Gene expression of PDHB in normal prepouch ileum:Gene expression of TCF25 in normal prepouch ileum:Gene expression of SLC12A8 in normal prepouch ileum:Gene expression of WDR8 in normal prepouch ileum:Gene expression of TRPM1 in normal prepouch ileum:Gene expression of OVOL3 in normal prepouch ileum:Gene expression of LOC100130507 in normal prepouch ileum:Gene expression of CTSH in normal prepouch ileum:Gene expression of AFG3L1P in normal prepouch ileum:Gene expression of RBX1 in normal prepouch ileum:Gene expression of KLK2 in normal prepouch ileum:Gene expression of KCMF1 in normal prepouch ileum:Gene expression of TBC1D14 in normal prepouch ileum:Gene expression of ZNF648 in normal prepouch ileum:Gene expression of FIBCD1 in normal prepouch ileum:Gene expression of NUP43 in normal prepouch ileum:Gene expression of KCNF1 in normal prepouch ileum:Gene expression of KRBA2 in normal prepouch ileum:Gene expression of C22orf26 in normal prepouch ileum:Gene expression of LUZP3P in normal prepouch ileum:Gene expression of NR5A1 in normal prepouch ileum:Gene expression of OR14I1 in normal prepouch ileum:Gene expression of ABCB5 in normal prepouch ileum:Gene expression of ALS2CR4 in normal prepouch ileum:Gene expression of CGB7 in normal prepouch ileum:Gene expression of GAS1 in normal prepouch ileum:Gene expression of PIGL in normal prepouch ileum:Gene expression of C3orf34 in normal prepouch ileum:Gene expression of RNASE8 in normal prepouch ileum:Gene expression of MYCNOS in normal prepouch ileum:Gene expression of C9orf144B in normal prepouch ileum:Gene expression of FMO2 in normal prepouch ileum:Gene expression of TMCC2 in normal prepouch ileum:Years of education:Gene expression of RPS23 in normal prepouch ileum:Gene expression of CDCA2 in normal prepouch ileum:Gene expression of DDX56 in normal prepouch ileum:Gene expression of OR52E5 in normal prepouch ileum:Gene expression of GLI3 in normal prepouch ileum:Gene expression of RP1L1 in normal prepouch ileum:Gene expression of BOK in normal prepouch ileum:Gene expression of DEFB126 in normal prepouch ileum:Gene expression of GNAT1 in normal prepouch ileum:Gene expression of PANK2 in normal prepouch ileum:Gene expression of LOC348926 in normal prepouch ileum:Gene expression of MST1R in normal prepouch ileum:Gene expression of KRTAP5-10 in normal prepouch ileum:Gene expression of ENOPH1 in normal prepouch ileum:Gene expression of C12orf62 in normal prepouch ileum:Gene expression of CCL24 in normal prepouch ileum:Gene expression of MS4A4A in normal prepouch ileum:Gene expression of OR52M1 in normal prepouch ileum:Gene expression of FLJ37543 in normal prepouch ileum:Gene expression of ZFP91-CNTF in normal prepouch ileum:Gene expression of EIF2B1 in normal prepouch ileum:Gene expression of RBBP6 in normal prepouch ileum:Gene expression of PIRT in normal prepouch ileum:Gene expression of TULP1 in normal prepouch ileum:Gene expression of RPS10P7 in normal prepouch ileum:Gene expression of ASXL3 in normal prepouch ileum:Gene expression of PPT1 in normal prepouch ileum:Gene expression of C11orf41 in normal prepouch ileum:Gene expression of RANBP3L in normal prepouch ileum:Gene expression of SNRNP40 in normal prepouch ileum:Gene expression of LSM6 in normal prepouch ileum:Gene expression of MMP7 in normal prepouch ileum:Gene expression of LOC440313 in normal prepouch ileum:Gene expression of TMPRSS5 in normal prepouch ileum:Gene expression of ZBTB32 in normal prepouch ileum:Gene expression of FOXL1 in normal prepouch ileum:Gene expression of RPL14 in normal prepouch ileum:Gene expression of MIR211 in normal prepouch ileum:Gene expression of THNSL2 in normal prepouch ileum:Gene expression of KRTAP5-5 in normal prepouch ileum:Gene expression of HMHB1 in normal prepouch ileum:Gene expression of EYA4 in normal prepouch ileum:Gene expression of FNTB in normal prepouch ileum:Hypertension (early onset hypertension):Gene expression of FTSJ2 in normal prepouch ileum:Gene expression of CA6 in normal prepouch ileum:Gene expression of OR7E154P in normal prepouch ileum:Gene expression of OR52B4 in normal prepouch ileum:Gene expression of ANKRD45 in normal prepouch ileum:Gene expression of FAM179A in normal prepouch ileum:Gene expression of GPR179 in normal prepouch ileum:Gene expression of ZNF697 in normal prepouch ileum:Gene expression of NCRNA00288 in normal prepouch ileum:Gene expression of TXNDC8 in normal prepouch ileum:Gene expression of GAR1 in normal prepouch ileum:Gene expression of HAUS6 in normal prepouch ileum:Gene expression of DCK in normal prepouch ileum:Gene expression of C10orf92 in normal prepouch ileum:Gene expression of FAM92B in normal prepouch ileum:Gene expression of LRRC27 in normal prepouch ileum:Gene expression of DLEU1 in normal prepouch ileum:Gene expression of LCE3A in normal prepouch ileum:Gene expression of SOD3 in normal prepouch ileum:Gene expression of PRAMEF2 in normal prepouch ileum:Gene expression of PLTP in normal prepouch ileum:Gene expression of BOD1 in normal prepouch ileum:Gene expression of SNUPN in normal prepouch ileum:Gene expression of MIR425 in normal prepouch ileum:Gene expression of KIAA0317 in normal prepouch ileum:Gene expression of C2orf73 in normal prepouch ileum:Gene expression of C16orf63 in normal prepouch ileum:Gene expression of C17orf51 in normal prepouch ileum:Gene expression of OR51D1 in normal prepouch ileum:Gene expression of ARHGEF15 in normal prepouch ileum:Gene expression of C1orf92 in normal prepouch ileum:Gene expression of C18orf2 in normal prepouch ileum:Gene expression of GPN3 in normal prepouch ileum:Gene expression of CTSS in normal prepouch ileum:Gene expression of NSMCE2 in normal prepouch ileum:Gene expression of GBA2 in normal prepouch ileum:Schizophrenia (in multiplex schizophrenia pedigrees):Gene expression of PIP5K1C in normal prepouch ileum:Gene expression of LARGE in normal prepouch ileum:Gene expression of KCNS1 in normal prepouch ileum:Gene expression of ZNF492 in normal prepouch ileum:Gene expression of CAMKV in normal prepouch ileum:Gene expression of PALMD in normal prepouch ileum:Gene expression of CEP250 in normal prepouch ileum:Gene expression of C14orf149 in normal prepouch ileum:Gene expression of ACTL7A in normal prepouch ileum:Gene expression of CLEC16A in normal prepouch ileum:Gene expression of C8orf33 in normal prepouch ileum:Gene expression of TAOK2 in normal prepouch ileum:Gene expression of STAG3 in normal prepouch ileum:Gene expression of HMGB1 in normal prepouch ileum:Gene expression of RNASEH2B in normal prepouch ileum:Gene expression of ZNF542 in normal prepouch ileum:Gene expression of LOC400499 in normal prepouch ileum:Gene expression of SLC6A15 in normal prepouch ileum:Gene expression of NAA40 in normal prepouch ileum:Gene expression of MYADML2 in normal prepouch ileum:Gene expression of FIGNL1 in normal prepouch ileum:Gene expression of ZNF818P in normal prepouch ileum:Gene expression of WDR5 in normal prepouch ileum:Gene expression of ALOX12 in normal prepouch ileum:Gene expression of POC5 in normal prepouch ileum:Gene expression of RGL4 in normal prepouch ileum:Gene expression of ASAH1 in normal prepouch ileum:Gene expression of OR2T1 in normal prepouch ileum:Gene expression of RPS28 in normal prepouch ileum:Gene expression of MRPS28 in normal prepouch ileum:Gene expression of KRT32 in normal prepouch ileum:Gene expression of MAD2L1 in normal prepouch ileum:Gene expression of TXNDC15 in normal prepouch ileum:Gene expression of HSPB11 in normal prepouch ileum:Gene expression of CHCHD5 in normal prepouch ileum:Gene expression of KCNH4 in normal prepouch ileum:Gene expression of ZFP2 in normal prepouch ileum:Gene expression of PRR25 in normal prepouch ileum:Gene expression of ZNF304 in normal prepouch ileum:Gene expression of MREG in normal prepouch ileum:Gene expression of HSPB9 in normal prepouch ileum:Gene expression of MSX2P1 in normal prepouch ileum:Gene expression of FAM162B in normal prepouch ileum:Gene expression of TMEM132A in normal prepouch ileum:Gene expression of UBA7 in normal prepouch ileum:Gene expression of VPS13D in normal prepouch ileum:Gene expression of TMEM151B in normal prepouch ileum:Gene expression of C4orf27 in normal prepouch ileum:Gene expression of LOC388796 in normal prepouch ileum:Gene expression of OR10H1 in normal prepouch ileum:Gene expression of C8orf34 in normal prepouch ileum:Gene expression of AVEN in normal prepouch ileum:Gene expression of TFB2M in normal prepouch ileum:Gene expression of SOX14 in normal prepouch ileum:Gene expression of OLA1 in normal prepouch ileum:Gene expression of GPCRLTM7 in normal prepouch ileum:Gene expression of ZNF415 in normal prepouch ileum:Gene expression of DDX52 in normal prepouch ileum:Gene expression of OMD in normal prepouch ileum:Gene expression of KBTBD5 in normal prepouch ileum:Gene expression of MAGI2 in normal prepouch ileum:Gene expression of PLK4 in normal prepouch ileum:Gene expression of C7orf68 in normal prepouch ileum:Gene expression of TMEM163 in normal prepouch ileum:Gene expression of ZNF827 in normal prepouch ileum:Gene expression of FNDC7 in normal prepouch ileum:Gene expression of IER3IP1 in normal prepouch ileum:Gene expression of SSPN in normal prepouch ileum:Gene expression of DEFB136 in normal prepouch ileum:Gene expression of HSD17B3 in normal prepouch ileum:Gene expression of WDR74 in normal prepouch ileum:Gene expression of WNT6 in normal prepouch ileum:Gene expression of ZNF341 in normal prepouch ileum:Gene expression of GTF3C6 in normal prepouch ileum:Gene expression of C2orf78 in normal prepouch ileum:Gene expression of RSPH4A in normal prepouch ileum:Gene expression of C20orf20 in normal prepouch ileum:Gene expression of ACTR1A in normal prepouch ileum:Gene expression of EDC4 in normal prepouch ileum:Gene expression of RBP3 in normal prepouch ileum:Gene expression of KIAA0913 in normal prepouch ileum:Gene expression of SNORD24 in normal prepouch ileum:Gene expression of SLC34A1 in normal prepouch ileum:Gene expression of CHST4 in normal prepouch ileum:Gene expression of HNRNPA3P1 in normal prepouch ileum:Gene expression of OR6F1 in normal prepouch ileum:Gene expression of LCNL1 in normal prepouch ileum:Gene expression of ULBP1 in normal prepouch ileum:Gene expression of OR6C68 in normal prepouch ileum:Gene expression of PLCD4 in normal prepouch ileum:Gene expression of FBP2 in normal prepouch ileum:Gene expression of TCTN3 in normal prepouch ileum:Gene expression of INSM2 in normal prepouch ileum:Gene expression of MXRA8 in normal prepouch ileum:Gene expression of C1orf111 in normal prepouch ileum:Gene expression of MIR195 in normal prepouch ileum:Gene expression of CC2D1B in normal prepouch ileum:Gene expression of FCN1 in normal prepouch ileum:Gene expression of ZWILCH in normal prepouch ileum:Gene expression of TP53TG3 in normal prepouch ileum:Gene expression of MYST1 in normal prepouch ileum:Gene expression of KRTAP4-9 in normal prepouch ileum:Gene expression of FLJ44790 in normal prepouch ileum:Gene expression of NDC80 in normal prepouch ileum:Gene expression of ARFIP2 in normal prepouch ileum:Gene expression of NRN1L in normal prepouch ileum:Gene expression of FAT2 in normal prepouch ileum:Gene expression of LY6G6D in normal prepouch ileum:Gene expression of SNORD114-6 in normal prepouch ileum
3 49721798 1 MST1 C A exonic synonymous SNV MST1:NM_020998:exon17:c.G1965T:p.R655R RS13085791 Fasting blood glucose:HOMA-IR:Total cholesterol:Serum creatinine:College completion:Years of education
3 49723784 1 MST1 C A exonic synonymous SNV MST1:NM_020998:exon8:c.G978T:p.P326P
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 49724906 1 MST1 C T exonic nonsynonymous SNV MST1:NM_020998:exon4:c.G361A:p.V121I
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 50197092 1 SEMA3F C T exonic synonymous SNV SEMA3F:NM_001318800:exon2:c.C37T:p.L13L,SEMA3F:NM_004186:exon2:c.C37T:p.L13L
3 50197097 1 SEMA3F C T exonic synonymous SNV SEMA3F:NM_001318800:exon2:c.C42T:p.T14T,SEMA3F:NM_004186:exon2:c.C42T:p.T14T
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 50311900 1 SEMA3B C T exonic nonsynonymous SNV SEMA3B:NM_001290062:exon5:c.C215T:p.T72I,SEMA3B:NM_001290063:exon5:c.C215T:p.T72I RS2071203 Gene expression of HEMK in YRI lymphoblastoid cell lines:Salmonella-induced pyroptosis
3 50326020 1 IFRD2 G A exonic synonymous SNV IFRD2:NM_006764:exon10:c.C1338T:p.H446H
3 50327429 1 IFRD2 A G exonic synonymous SNV IFRD2:NM_006764:exon5:c.T669C:p.F223F
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 50334231 1 NAT6 T A exonic nonsynonymous SNV NAT6:NM_001200016:exon2:c.A664T:p.R222W,NAT6:NM_001200018:exon2:c.A664T:p.R222W,NAT6:NM_012191:exon2:c.A730T:p.R244W RS2269432 Gene expression of HEMK in YRI lymphoblastoid cell lines
3 50339622 1 HYAL1 C T exonic nonsynonymous SNV HYAL1:NM_033159:exon2:c.G766A:p.G256R,HYAL1:NM_153282:exon2:c.G766A:p.G256R,HYAL1:NM_153283:exon2:c.G220A:p.G74R,HYAL1:NM_153281:exon4:c.G766A:p.G256R
3 50355730 1 HYAL2 T G exonic nonsynonymous SNV HYAL2:NM_003773:exon4:c.A1252C:p.I418L,HYAL2:NM_033158:exon5:c.A1252C:p.I418L RS35455589 Salmonella-induced pyroptosis
3 50357869 1 HYAL2 A C exonic nonsynonymous SNV HYAL2:NM_003773:exon2:c.T52G:p.S18A,HYAL2:NM_033158:exon3:c.T52G:p.S18A RS709210 HDL cholesterol:HDL cholesterol change with statins:Gene expression of HYAL3 in Frontal cortex:HDL cholesterol:Total cholesterol:Gene expression of HYAL3 [transcript NM_003549, probe A_23_P361405] in liver:Obesity with early age of onset (age >2):Gene expression of HYAL3 (probeID ILMN_1667432) in cerebellum in Alzheimer's disease cases and controls:College completion:Gene expression of HYAL3 (probeID ILMN_1667432) in temporal cortex in Alzheimer's disease cases and controls
3 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 50609624 1 HEMK1 T G exonic synonymous SNV HEMK1:NM_001317851:exon4:c.T399G:p.P133P,HEMK1:NM_016173:exon4:c.T399G:p.P133P RS2232248 Gene expression of HEMK in YRI lymphoblastoid cell lines:Alzheimer's disease:Premature ovarian failure:Gene expression of MAPKAPK3 in peripheral blood monocytes:Gene expression of FZD10 in peripheral blood monocytes:Brain glutamate concentrations in multiple sclerosis (high neurodegeneration group):Height:Body mass index (BMI):Gene expression of MAPKAPK3 in blood:Serum ratio of (1-stearoylglycerol (1-monostearin))/(7-methylguanine):Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration:College completion:Diabetic retinopathy in Type 2 diabetes mellitus
3 51428887 1 RBM15B C G exonic synonymous SNV RBM15B:NM_013286:exon1:c.C57G:p.S19S
3 51430657 1 RBM15B A C exonic synonymous SNV RBM15B:NM_013286:exon1:c.A1827C:p.S609S RS3804766 Schizophrenia:Schizophrenia:Alcohol dependence:Diabetic retinopathy in Type 2 diabetes mellitus
3 51737965 1 TEX264 G A exonic nonsynonymous SNV TEX264:NM_001243727:exon4:c.G653A:p.G218E,TEX264:NM_001243725:exon5:c.G875A:p.G292E,TEX264:NM_001243726:exon5:c.G875A:p.G292E,TEX264:NM_015926:exon5:c.G875A:p.G292E,TEX264:NM_001129884:exon6:c.G875A:p.G292E,TEX264:NM_001278195:exon6:c.G875A:p.G292E
3 51978220 2 PARP3 A G exonic nonsynonymous SNV PARP3:NM_001003931:exon3:c.A320G:p.H107R,PARP3:NM_005485:exon3:c.A299G:p.H100R
3 52005608 1 ABHD14B C T exonic nonsynonymous SNV ABHD14B:NM_001146314:exon2:c.G79A:p.G27S,ABHD14B:NM_032750:exon2:c.G79A:p.G27S
3 52237970 1 ALAS1 C T exonic synonymous SNV ALAS1:NM_001304443:exon4:c.C519T:p.I173I,ALAS1:NM_199166:exon4:c.C519T:p.I173I,ALAS1:NM_000688:exon5:c.C519T:p.I173I,ALAS1:NM_001304444:exon5:c.C570T:p.I190I RS352168 Gene expression of FLJ12442 in CHB lymphoblastoid cell lines:2 hour glucose:HDL cholesterol:Cystatin C in serum:Height:Waist hip ratio:Bipolar disorder:Adiponectin levels
3 52453893 2 PHF7 C T exonic synonymous SNV PHF7:NM_001278221:exon5:c.C231T:p.G77G,PHF7:NM_001321126:exon5:c.C231T:p.G77G,PHF7:NM_001321127:exon5:c.C231T:p.G77G,PHF7:NM_016483:exon5:c.C231T:p.G77G RS498778 Autism:HDL cholesterol:Waist hip ratio:Adiponectin levels
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 52567617 1 NT5DC2 A G exonic nonsynonymous SNV NT5DC2:NM_001134231:exon1:c.T137C:p.V46A
3 52610651 1 PBRM1 T A exonic synonymous SNV PBRM1:NM_001350075:exon23:c.A3597T:p.P1199P,PBRM1:NM_018313:exon23:c.A3522T:p.P1174P,PBRM1:NM_181042:exon24:c.A3597T:p.P1199P,PBRM1:NM_001350079:exon25:c.A3585T:p.P1195P,PBRM1:NM_001350074:exon26:c.A3705T:p.P1235P,PBRM1:NM_001350076:exon26:c.A3702T:p.P1234P,PBRM1:NM_001350078:exon26:c.A3705T:p.P1235P,PBRM1:NM_001350077:exon27:c.A3696T:p.P1232P RS17264436 Gene expression of ITIH4 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of FLJ12442 in CHB-JPT lymphoblastoid cell lines:Cystatin C in serum:Serum creatinine:LDL cholesterol:Total cholesterol:Height:Waist hip ratio:Years of education:Birth weight:Refractive error:Adiponectin levels:College completion
3 52721305 1 GNL3 G A exonic nonsynonymous SNV GNL3:NM_014366:exon3:c.G116A:p.R39Q,GNL3:NM_206825:exon3:c.G80A:p.R27Q,GNL3:NM_206826:exon3:c.G80A:p.R27Q RS11177 Gene expression of ITIH4 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of FLJ12442 in CHB-JPT lymphoblastoid cell lines:Differential exon level expression of GNL3 [probe 2624077] in peripheral blood mononuclear cells:Differential exon level expression of PBRM1 [probe 2676224] in brain cortex:Differential exon level expression of NEK4 [probe 2676380] in brain cortex:Cystatin C in serum:Serum creatinine:Lp-PLA2 mass:LDL cholesterol:Total cholesterol:Height:Waist hip ratio:Gene expression of STAB1///NT5DC2 in blood:Gene expression of ITIH4 in blood:Gene expression of GNL3 in blood:Gene expression of SPCS1 in blood:Bipolar disorder:Sporadic Creutzfeldt-Jakob disease:Bipolar disorder:Gene expression of GNL3 (probeID ILMN_1790659) in cerebellum in Progressive Supranuclear Palsy cases:Major depressive disorder and bipolar disorder combined analysis:College completion:Osteoarthritis (females):Adiponectin levels:Gene expression of GNL3 (probeID ILMN_1790659) in temporal cortex in Alzheimer's disease cases and controls:Salmonella-induced pyroptosis:Gene expression of GNL3 (probeID ILMN_1790659) in temporal cortex in Alzheimer's disease cases:Knee osteoarthritis (females):Gene expression of GNL3 (probeID ILMN_1790659) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of GNL3 (probeID ILMN_1790659) in cerebellum in Alzheimer's disease cases:Osteoarthritis:Major depressive disorder:Knee osteoarthritis:Transmission distortion:Hip osteoarthritis (males):Gene expression of SPCS1 in normal prepouch ileum:Osteoarthritis (males):Birth weight:Gene expression of GNL3 (probeID ILMN_1790659) in cerebellum in non-Alzheimer's disease samples:Refractive error:Hip osteoarthritis:Gene expression of GNL3 (probeID ILMN_1790659) in cerebellum in Alzheimer's disease cases and controls:Years of education:Maternal transmission distortion:Knee osteoarthritis (males):Hip osteoarthritis (females)
3 52727257 1 GNL3 G A exonic nonsynonymous SNV GNL3:NM_014366:exon11:c.G1099A:p.V367M,GNL3:NM_206825:exon11:c.G1063A:p.V355M,GNL3:NM_206826:exon11:c.G1063A:p.V355M RS2289247 Bipolar disorder, combined control dataset:Gene expression of FLJ12442 in CHB-JPT lymphoblastoid cell lines:Gene expression of ITIH4 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of Hs.132700 in CEU lymphoblastoid cell lines:Differential exon level expression of PBRM1 [probe 2676224] in brain cortex:Differential exon level expression of GNL3 [probe 2624077] in peripheral blood mononuclear cells:Gene expression of AD-017 probe [GI_8923854-A] in brain cortex with no Alzheimer's interaction:Bipolar disorder:Major depressive disorder:HDL cholesterol:Serum creatinine:Cystatin C in serum:Gene expression of ITIH4 in peripheral blood monocytes:Gene expression of GLYCTK in peripheral blood monocytes:Gene expression of NT5DC2 in peripheral blood monocytes:LDL cholesterol:Total cholesterol:Height:Waist hip ratio:Gene expression of SPCS1 in blood:Gene expression of ITIH4 in blood:Gene expression of GNL3 in blood:Gene expression of STAB1///NT5DC2 in blood:Serum concentration of DSGEGDFXAEGGGVR*:Bipolar disorder:Major depressive disorder:Gene expression of GNL3 (probeID ILMN_1790659) in temporal cortex in Alzheimer's disease cases:Gene expression of GNL3 (probeID ILMN_1790659) in temporal cortex in Progressive Supranuclear Palsy cases:Adiponectin levels:Gene expression of GNL3 (probeID ILMN_1790659) in cerebellum in Alzheimer's disease cases:Gene expression of GNL3 (probeID ILMN_1790659) in cerebellum in non-Alzheimer's disease samples:Birth weight:Gene expression of SPCS1 in normal prepouch ileum:College completion:Major depressive disorder and bipolar disorder combined analysis:Gene expression of GNL3 (probeID ILMN_1790659) in cerebellum in Alzheimer's disease cases and controls:Gene expression of GNL3 (probeID ILMN_1790659) in cerebellum in Progressive Supranuclear Palsy cases:Transmission distortion:Maternal transmission distortion:Years of education:Gene expression of GNL3 (probeID ILMN_1790659) in temporal cortex in Alzheimer's disease cases and controls:Refractive error:Paternal transmission distortion:Bipolar disorder
3 52740182 1 SPCS1 C G exonic nonsynonymous SNV SPCS1:NM_014041:exon1:c.C121G:p.P41A RS6617 Gene expression of FLJ12442 in CHB-JPT lymphoblastoid cell lines:Gene expression of ITIH4 in CEU-CHB-JPT lymphoblastoid cell lines:HDL cholesterol:Cystatin C in serum:Serum creatinine:LDL cholesterol:Total cholesterol:Height:Waist hip ratio:Adiponectin levels:College completion:Years of education:Gene expression of GNL3 (probeID ILMN_1790659) in temporal cortex in Alzheimer's disease cases and controls:Birth weight:Gene expression of GNL3 (probeID ILMN_1790659) in cerebellum in Alzheimer's disease cases and controls
3 52800284 1 NEK4 T C exonic synonymous SNV NEK4:NM_001193533:exon2:c.A201G:p.L67L,NEK4:NM_001348412:exon3:c.A468G:p.L156L,NEK4:NM_001348413:exon3:c.A468G:p.L156L,NEK4:NM_001348414:exon3:c.A222G:p.L74L,NEK4:NM_003157:exon3:c.A468G:p.L156L RS2230535 Gene expression of FLJ12442 in CHB-JPT lymphoblastoid cell lines:Gene expression of ITIH4 in CEU-CHB-JPT lymphoblastoid cell lines:LDL cholesterol:Total cholesterol:Waist hip ratio:Bipolar disorder:Major depressive disorder and bipolar disorder combined analysis:Gene expression of SPCS1 in normal prepouch ileum:Adiponectin levels:Bipolar disorder:Salmonella-induced pyroptosis:Major depressive disorder
3 52802402 1 NEK4 A C exonic synonymous SNV NEK4:NM_001348412:exon2:c.T312G:p.P104P,NEK4:NM_001348413:exon2:c.T312G:p.P104P,NEK4:NM_001348414:exon2:c.T66G:p.P22P,NEK4:NM_003157:exon2:c.T312G:p.P104P RS2230534 Gene expression of FLJ12442 in CHB-JPT lymphoblastoid cell lines:Gene expression of ITIH4 in CEU-CHB-JPT lymphoblastoid cell lines:LDL cholesterol:Total cholesterol:Waist hip ratio:Salmonella-induced pyroptosis:Major depressive disorder and bipolar disorder combined analysis:Major depressive disorder:Bipolar disorder
3 52833805 1 ITIH3 C A exonic nonsynonymous SNV ITIH3:NM_002217:exon9:c.C943A:p.Q315K RS3617 Gene expression of FLJ12442 in CHB-JPT lymphoblastoid cell lines:Gene expression of ITIH4 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of TMEM110 [probe 2676471] in peripheral blood mononuclear cells:Fasting insulin:HDL cholesterol:Lp-PLA2 mass:Lp-PLA2 activity:Height:Waist hip ratio:Body mass index (BMI):Late onset Alzheimer's disease:Gene expression of PBRM1 [transcript NM_018313, probe A_23_P218863] in liver:Gene expression of SPCS1 in blood:Gene expression of TMEM110 in blood:Serum concentration of DSGEGDFXAEGGGVR*:Bipolar disorder:Waist hip ratio:Bipolar disorder:Major depressive disorder and bipolar disorder combined analysis:Transmission distortion:Birth weight:Major depressive disorder:Refractive error:Adiponectin levels:Maternal transmission distortion:Years of education:Gene expression of SPCS1 in normal prepouch ileum:Body mass index (BMI):Fasting insulin
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 53321631 1 DCP1A A C exonic synonymous SNV DCP1A:NM_001290207:exon8:c.T1239G:p.V413V,DCP1A:NM_001290204:exon9:c.T1602G:p.V534V,DCP1A:NM_001290206:exon9:c.T1353G:p.V451V,DCP1A:NM_018403:exon10:c.T1716G:p.V572V,DCP1A:NM_001290205:exon11:c.T1500G:p.V500V RS9628 Eye color:Fasting insulin:Total cholesterol:Gene expression of TKT in blood:Gene expression of PRKCD in blood:Resistance to kuru in aged women despite likely exposure:Adiponectin levels
3 53857676 1 CHDH C T exonic synonymous SNV CHDH:NM_018397:exon3:c.G360A:p.L120L
3 53857803 1 CHDH A C exonic nonsynonymous SNV CHDH:NM_018397:exon3:c.T233G:p.L78R
3 53857917 1 CHDH T G exonic nonsynonymous SNV CHDH:NM_018397:exon3:c.A119C:p.E40A RS9001 Parkinson's disease
3 53905308 1 ACTR8 T C exonic synonymous SNV ACTR8:NM_022899:exon11:c.A1518G:p.G506G RS1046677 Gene expression of probe 236242_at in lymphoblastoid cell lines:2 hour glucose:Total cholesterol change with statins:Serum creatinine:Gene expression of IL17RB in Cerebellum:Gene expression of ACTR8 in normal prepouch ileum
3 53906513 1 ACTR8 G A exonic synonymous SNV ACTR8:NM_022899:exon10:c.C1200T:p.I400I RS4687757 2 hour glucose:Total cholesterol change with statins:Serum creatinine:Gene expression of IL17RB in Cerebellum:Gene expression of ACTR8 in normal prepouch ileum
3 53914093 1 ACTR8 G A exonic nonsynonymous SNV ACTR8:NM_022899:exon2:c.C167T:p.T56I RS3733082 Cystatin C in serum:Salmonella-induced pyroptosis
3 56597954 2 CCDC66 C T exonic synonymous SNV CCDC66:NM_001012506:exon4:c.C243T:p.T81T,CCDC66:NM_001141947:exon4:c.C345T:p.T115T RS6769055 Irritible bowel syndrome:Rheumatoid arthritis:Height:Maternal transmission distortion
3 56627048 2 CCDC66 A G exonic synonymous SNV CCDC66:NM_001012506:exon8:c.A885G:p.Q295Q,CCDC66:NM_001141947:exon8:c.A987G:p.Q329Q RS1388256 Height:Bipolar disorder:Refractive error
3 56627598 2 CCDC66 A G exonic nonsynonymous SNV CCDC66:NM_001012506:exon9:c.A1046G:p.Q349R,CCDC66:NM_001141947:exon9:c.A1148G:p.Q383R
3 56667682 1 FAM208A G C exonic nonsynonymous SNV FAM208A:NM_015224:exon11:c.C1826G:p.T609R,FAM208A:NM_001112736:exon18:c.C3137G:p.T1046R RS9835332 HOMA-B:HDL cholesterol:Triglycerides:Height:Gene expression:Urinary albumin-to-creatinine ratio:Microalbuminuria:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Height:Height:Height:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of C3orf63 (probeID ILMN_1661409) in cerebellum in non-Alzheimer's disease samples:Gene expression of C3orf63 (probeID ILMN_1661409) in cerebellum in Alzheimer's disease cases and controls:Height:Years of education:College completion
3 56716922 1 FAM208A T G exonic nonsynonymous SNV FAM208A:NM_001112736:exon1:c.A113C:p.Q38P RS958755 Spine bone mineral density (BMD):Alzheimer's disease:HDL cholesterol:Triglycerides:Height:Gene expression of CCDC66 [probe ILMN_20485] in osteoblasts treated with BMP2:Urinary albumin-to-creatinine ratio:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Height:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:College completion:Years of education
3 56763316 1 ARHGEF3 G A exonic synonymous SNV ARHGEF3:NM_001128616:exon10:c.C1581T:p.H527H,ARHGEF3:NM_019555:exon10:c.C1563T:p.H521H,ARHGEF3:NM_001289698:exon11:c.C1581T:p.H527H,ARHGEF3:NM_001128615:exon13:c.C1659T:p.H553H
3 56763328 1 ARHGEF3 T C exonic synonymous SNV ARHGEF3:NM_001128616:exon10:c.A1569G:p.G523G,ARHGEF3:NM_019555:exon10:c.A1551G:p.G517G,ARHGEF3:NM_001289698:exon11:c.A1569G:p.G523G,ARHGEF3:NM_001128615:exon13:c.A1647G:p.G549G RS1565377 Triglycerides:HDL cholesterol:Height:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):College completion:Years of education
3 56771251 1 ARHGEF3 A C exonic nonsynonymous SNV ARHGEF3:NM_001128616:exon8:c.T1021G:p.L341V,ARHGEF3:NM_019555:exon8:c.T1003G:p.L335V,ARHGEF3:NM_001289698:exon9:c.T1021G:p.L341V,ARHGEF3:NM_001128615:exon11:c.T1099G:p.L367V RS3772219 Irritible bowel syndrome:Rheumatoid arthritis:Longstanding arthritis:Alzheimer's disease:Autism with low IQ:Gene expression of CCDC66 [probe ILMN_20485] in osteoblasts treated with bmp:Gene expression of ARHGEF3 in blood:Serum ratio of (1-eicosadienoylglycerophosphocholine*)/(2-stearoylglycerophosphocholine*):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):College completion
3 58081888 1 FLNB T C exonic synonymous SNV FLNB:NM_001164317:exon6:c.T927C:p.S309S,FLNB:NM_001164318:exon6:c.T927C:p.S309S,FLNB:NM_001164319:exon6:c.T927C:p.S309S,FLNB:NM_001457:exon6:c.T927C:p.S309S
3 58116478 1 FLNB C G exonic nonsynonymous SNV FLNB:NM_001164317:exon25:c.C4233G:p.F1411L,FLNB:NM_001164318:exon25:c.C4233G:p.F1411L,FLNB:NM_001164319:exon25:c.C4233G:p.F1411L,FLNB:NM_001457:exon25:c.C4233G:p.F1411L
3 58382846 1 PXK C T exonic synonymous SNV PXK:NM_001289101:exon7:c.C492T:p.C164C,PXK:NM_001349525:exon7:c.C492T:p.C164C,PXK:NM_001349526:exon7:c.C492T:p.C164C,PXK:NM_001349532:exon7:c.C492T:p.C164C,PXK:NM_001349533:exon7:c.C492T:p.C164C,PXK:NM_001349534:exon7:c.C492T:p.C164C,PXK:NM_001349535:exon7:c.C492T:p.C164C,PXK:NM_001349536:exon7:c.C492T:p.C164C,PXK:NM_001349537:exon7:c.C492T:p.C164C,PXK:NM_001349538:exon7:c.C492T:p.C164C,PXK:NM_001349539:exon7:c.C492T:p.C164C,PXK:NM_001349540:exon7:c.C492T:p.C164C,PXK:NM_001289096:exon8:c.C804T:p.C268C,PXK:NM_001289100:exon8:c.C804T:p.C268C,PXK:NM_001349490:exon8:c.C804T:p.C268C,PXK:NM_001349500:exon8:c.C804T:p.C268C,PXK:NM_001349522:exon8:c.C804T:p.C268C,PXK:NM_001349524:exon8:c.C804T:p.C268C,PXK:NM_001289095:exon9:c.C852T:p.C284C,PXK:NM_001349491:exon9:c.C492T:p.C164C,PXK:NM_001349494:exon9:c.C855T:p.C285C,PXK:NM_001349495:exon9:c.C855T:p.C285C,PXK:NM_001349496:exon9:c.C852T:p.C284C,PXK:NM_001349497:exon9:c.C852T:p.C284C,PXK:NM_001349501:exon9:c.C855T:p.C285C,PXK:NM_001349502:exon9:c.C852T:p.C284C,PXK:NM_001349510:exon9:c.C855T:p.C285C,PXK:NM_001349511:exon9:c.C855T:p.C285C,PXK:NM_001349512:exon9:c.C855T:p.C285C,PXK:NM_001349514:exon9:c.C852T:p.C284C,PXK:NM_001349515:exon9:c.C852T:p.C284C,PXK:NM_001349516:exon9:c.C855T:p.C285C,PXK:NM_001349517:exon9:c.C852T:p.C284C,PXK:NM_001349518:exon9:c.C852T:p.C284C,PXK:NM_001289098:exon10:c.C903T:p.C301C,PXK:NM_001289099:exon10:c.C654T:p.C218C,PXK:NM_001349488:exon10:c.C903T:p.C301C,PXK:NM_001349492:exon10:c.C903T:p.C301C,PXK:NM_001349493:exon10:c.C903T:p.C301C,PXK:NM_001349498:exon10:c.C843T:p.C281C,PXK:NM_001349499:exon10:c.C903T:p.C301C,PXK:NM_001349503:exon10:c.C903T:p.C301C,PXK:NM_001349504:exon10:c.C903T:p.C301C,PXK:NM_001349506:exon10:c.C903T:p.C301C,PXK:NM_001349507:exon10:c.C903T:p.C301C,PXK:NM_001349508:exon10:c.C903T:p.C301C,PXK:NM_001349509:exon10:c.C903T:p.C301C,PXK:NM_001349519:exon10:c.C903T:p.C301C,PXK:NM_001349520:exon10:c.C903T:p.C301C,PXK:NM_001349527:exon10:c.C903T:p.C301C,PXK:NM_017771:exon10:c.C903T:p.C301C,PXK:NM_001349489:exon11:c.C654T:p.C218C,PXK:NM_001349513:exon11:c.C654T:p.C218C,PXK:NM_001349521:exon11:c.C654T:p.C218C,PXK:NM_001349528:exon11:c.C654T:p.C218C,PXK:NM_001349529:exon11:c.C654T:p.C218C,PXK:NM_001349530:exon11:c.C654T:p.C218C,PXK:NM_001349531:exon11:c.C654T:p.C218C RS3191903 Gene expression of RPP14 in normal prepouch ileum:Gene expression of ABHD6 in normal prepouch ileum:Gene expression of PXK in normal prepouch ileum
3 58416535 1 PDHB C T exonic synonymous SNV PDHB:NM_001315536:exon5:c.G384A:p.G128G,PDHB:NM_000925:exon6:c.G438A:p.G146G
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 66287056 1 SLC25A26 G A exonic nonsynonymous SNV SLC25A26:NM_001350991:exon2:c.G122A:p.S41N,SLC25A26:NM_173471:exon3:c.G122A:p.S41N
3 66419956 1 SLC25A26 C T exonic nonsynonymous SNV SLC25A26:NM_001164796:exon7:c.C359T:p.T120M,SLC25A26:NM_001350992:exon7:c.C359T:p.T120M,SLC25A26:NM_001350991:exon8:c.C623T:p.T208M,SLC25A26:NM_001350993:exon9:c.C359T:p.T120M,SLC25A26:NM_173471:exon9:c.C623T:p.T208M RS13874 Gene expression of SLC25A26 in lymphoblastoid cell lines:Differential exon level expression of SLC25A26 [probe 2628112] in peripheral blood mononuclear cells:Differential exon level expression of SLC25A26 [probe 2628122] in peripheral blood mononuclear cells:Height:Waist hip ratio:Gene expression of SLC25A26 in blood:Gene expression of SLC25A26 (probeID ILMN_1777976) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of SLC25A26 (probeID ILMN_1777976) in cerebellum in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (geographic atrophy):Gene expression of SLC25A26 in normal prepouch ileum
3 66433676 2 LRIG1 A G exonic synonymous SNV LRIG1:NM_015541:exon15:c.T2221C:p.L741L RS900171 Height:Waist hip ratio
3 66550756 2 LRIG1 G C exonic nonsynonymous SNV LRIG1:NM_015541:exon1:c.C76G:p.L26V
3 66550762 2 LRIG1 G C exonic nonsynonymous SNV LRIG1:NM_015541:exon1:c.C70G:p.L24V
3 69096614 2 TMF1 G A exonic synonymous SNV TMF1:NM_007114:exon2:c.C1242T:p.S414S RS2292199 2 hour glucose:Fasting blood glucose:Height
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 97660084 2 CRYBG3 C T exonic synonymous SNV CRYBG3:NM_153605:exon20:c.C8598T:p.C2866C RS11544446 HOMA-IR:Triglycerides change with statins:Diabetic retinopathy in Type 2 diabetes mellitus
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 98307630 1 CPOX C T exonic nonsynonymous SNV CPOX:NM_000097:exon4:c.G880A:p.V294I
3 99886662 1 CMSS1 G A exonic nonsynonymous SNV CMSS1:NM_001167924:exon6:c.G442A:p.V148I,CMSS1:NM_032359:exon6:c.G496A:p.V166I
3 100467018 1 TFG T C exonic synonymous SNV TFG:NM_001007565:exon8:c.T846C:p.P282P,TFG:NM_001195478:exon8:c.T846C:p.P282P,TFG:NM_001195479:exon8:c.T834C:p.P278P,TFG:NM_006070:exon8:c.T846C:p.P282P RS11353 Sporadic Creutzfeldt-Jakob disease:Gene expression of TFG (probeID ILMN_2341815) in cerebellum in Alzheimer's disease cases and controls:Hypertension (early onset hypertension):Gene expression of TFG (probeID ILMN_2341815) in temporal cortex in Alzheimer's disease cases and controls
3 101085413 1 SENP7 G A exonic synonymous SNV SENP7:NM_001282803:exon6:c.C687T:p.T229T,SENP7:NM_001077203:exon8:c.C984T:p.T328T,SENP7:NM_001282801:exon8:c.C981T:p.T327T,SENP7:NM_001282802:exon8:c.C1080T:p.T360T,SENP7:NM_020654:exon9:c.C1179T:p.T393T RS939443 HDL cholesterol change with statins:Body mass index (BMI):Diastolic blood pressure (DBP):Gene expression of SENP7 in normal prepouch ileum
3 101576175 1 NFKBIZ T C exonic synonymous SNV NFKBIZ:NM_031419:exon11:c.T1975C:p.L659L,NFKBIZ:NM_001005474:exon12:c.T1675C:p.L559L RS14134 Height:Adiponectin levels:Years of education:Refractive error:Birth weight:College completion
3 105389153 1 CBLB A G exonic synonymous SNV CBLB:NM_001321816:exon15:c.T1554C:p.P518P,CBLB:NM_001321797:exon16:c.T2334C:p.P778P,CBLB:NM_001321798:exon16:c.T2334C:p.P778P,CBLB:NM_001321799:exon16:c.T2334C:p.P778P,CBLB:NM_001321811:exon16:c.T1686C:p.P562P,CBLB:NM_001321789:exon17:c.T2550C:p.P850P,CBLB:NM_001321790:exon17:c.T2547C:p.P849P,CBLB:NM_001321791:exon17:c.T2481C:p.P827P,CBLB:NM_001321793:exon17:c.T2481C:p.P827P,CBLB:NM_001321794:exon17:c.T2466C:p.P822P,CBLB:NM_001321795:exon17:c.T2466C:p.P822P,CBLB:NM_001321796:exon17:c.T2466C:p.P822P,CBLB:NM_001321806:exon17:c.T1833C:p.P611P,CBLB:NM_001321786:exon18:c.T2697C:p.P899P,CBLB:NM_001321788:exon18:c.T2613C:p.P871P,CBLB:NM_001321808:exon18:c.T1701C:p.P567P,CBLB:NM_001321813:exon18:c.T1686C:p.P562P,CBLB:NM_170662:exon18:c.T2613C:p.P871P,CBLB:NM_001321807:exon19:c.T1833C:p.P611P,CBLB:NM_001321820:exon19:c.T1293C:p.P431P,CBLB:NM_001321822:exon19:c.T1284C:p.P428P
3 108403086 2 DZIP3 T C exonic synonymous SNV DZIP3:NM_014648:exon27:c.T2907C:p.P969P
3 112289505 1 SLC35A5 C T exonic synonymous SNV SLC35A5:NM_001348905:exon4:c.C348T:p.S116S,SLC35A5:NM_001348906:exon4:c.C348T:p.S116S,SLC35A5:NM_001348907:exon4:c.C348T:p.S116S,SLC35A5:NM_001348910:exon4:c.C348T:p.S116S,SLC35A5:NM_001348911:exon4:c.C348T:p.S116S,SLC35A5:NM_017945:exon4:c.C348T:p.S116S
3 112727184 1 NEPRO A T exonic nonsynonymous SNV NEPRO:NM_001319110:exon5:c.T568A:p.F190I,NEPRO:NM_001319109:exon6:c.T859A:p.F287I,NEPRO:NM_001319111:exon7:c.T460A:p.F154I,NEPRO:NM_001319112:exon7:c.T736A:p.F246I,NEPRO:NM_001319114:exon7:c.T661A:p.F221I,NEPRO:NM_001319115:exon7:c.T778A:p.F260I,NEPRO:NM_015412:exon8:c.T1069A:p.F357I RS2306857 Serum creatinine:Waist hip ratio
3 113373930 2 USF3 A G exonic nonsynonymous SNV USF3:NM_001009899:exon7:c.T6599C:p.V2200A
3 113673125 1 ZDHHC23 A G exonic nonsynonymous SNV ZDHHC23:NM_001320466:exon3:c.A740G:p.K247R,ZDHHC23:NM_001320467:exon3:c.A740G:p.K247R,ZDHHC23:NM_001320468:exon3:c.A740G:p.K247R,ZDHHC23:NM_173570:exon3:c.A740G:p.K247R RS11921691 Amyotrophic lateral sclerosis (ALS):2 hour glucose:HDL cholesterol change with statins:Total cholesterol change with statins:Bipolar disorder:Gene expression of ZDHHC23 (ENSG00000184307) in dendritic cells
3 118604436 2
3 119533910 2 NR1I2 T C exonic synonymous SNV NR1I2:NM_003889:exon6:c.T879C:p.N293N,NR1I2:NM_022002:exon6:c.T996C:p.N332N,NR1I2:NM_033013:exon6:c.T768C:p.N256N
3 120389316 2 HGD T A exonic nonsynonymous SNV HGD:NM_000187:exon4:c.A240T:p.Q80H
3 121413637 1 GOLGB1 G A exonic synonymous SNV GOLGB1:NM_001256488:exon12:c.C5493T:p.S1831S,GOLGB1:NM_001256486:exon13:c.C5733T:p.S1911S,GOLGB1:NM_001256487:exon13:c.C5616T:p.S1872S,GOLGB1:NM_004487:exon13:c.C5718T:p.S1906S
3 121415370 1 GOLGB1 T C exonic nonsynonymous SNV GOLGB1:NM_001256488:exon12:c.A3760G:p.T1254A,GOLGB1:NM_001256486:exon13:c.A4000G:p.T1334A,GOLGB1:NM_001256487:exon13:c.A3883G:p.T1295A,GOLGB1:NM_004487:exon13:c.A3985G:p.T1329A
3 121415610 1 GOLGB1 G A exonic nonsynonymous SNV GOLGB1:NM_001256488:exon12:c.C3520T:p.P1174S,GOLGB1:NM_001256486:exon13:c.C3760T:p.P1254S,GOLGB1:NM_001256487:exon13:c.C3643T:p.P1215S,GOLGB1:NM_004487:exon13:c.C3745T:p.P1249S
3 121507231 1 IQCB1 A T exonic nonsynonymous SNV IQCB1:NM_001023571:exon9:c.T779A:p.I260N,IQCB1:NM_001023570:exon12:c.T1178A:p.I393N,IQCB1:NM_001319107:exon12:c.T1178A:p.I393N RS1141528 Schizophrenia:Serum creatinine:Gene expression of SLC15A2 in peripheral blood monocytes:Gene expression of IQCB1 in peripheral blood monocytes:Parkinson's disease
3 121526204 1 IQCB1 G A exonic synonymous SNV IQCB1:NM_001023570:exon7:c.C574T:p.L192L,IQCB1:NM_001023571:exon7:c.C574T:p.L192L,IQCB1:NM_001319107:exon7:c.C574T:p.L192L RS4543051 Triglycerides:Serum creatinine:Triglycerides
3 121563355 1 EAF2 T C exonic synonymous SNV EAF2:NM_018456:exon2:c.T162C:p.G54G RS9884018 Gene expression of IQCB1 [probe 205995_x_at] in lymphoblastoid cell lines:Gene expression of GOLGB1 in blood cells in Celiac disease:Gene expression of GOLGB1 [probe ILMN_1500] in osteoblasts:Gene expression of IQCB1 in CD4+ lymphocytes:Gene expression of IQCB1 in blood:Gene expression of GOLGB1 in blood:Serum concentration of 3-dehydrocarnitine*:Sporadic Creutzfeldt-Jakob disease:Gene expression of GOLGB1 in liver:Gene expression of GOLGB1 (probeID ILMN_1747935) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GOLGB1 (probeID ILMN_1747935) in cerebellum in Alzheimer's disease cases and controls
3 122056432 2 CSTA C T exonic synonymous SNV CSTA:NM_005213:exon2:c.C105T:p.Y35Y RS17589 Hypertension:Irritible bowel syndrome:Total cholesterol:Acute lung injury following major trauma
3 122186188 2 KPNA1 C T exonic nonsynonymous SNV KPNA1:NM_002264:exon3:c.G218A:p.S73N
3 122288210 1 DTX3L G A exonic nonsynonymous SNV DTX3L:NM_138287:exon3:c.G1274A:p.R425K RS2332285 Gene expression of CCDC58 in peripheral blood monocytes:Total cholesterol:LDL cholesterol:LDL cholesterol:Gene expression of [probe 2350228 centered at chr3:123614154] in blood:Serum ratio of (arabinose)/(deoxycholate):Variant Creutzfeldt-Jakob disease:Hypertension (early onset hypertension)
3 122420050 1 PARP14 C T exonic synonymous SNV PARP14:NM_017554:exon6:c.C2649T:p.P883P
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 122880191 1 PDIA5 T C exonic synonymous SNV PDIA5:NM_006810:exon16:c.T1368C:p.C456C RS8935 Gene expression of PDIA5 in blood:Tetrology of fallot
3 123411589 2 MYLK G A exonic synonymous SNV MYLK:NM_001321309:exon18:c.C3030T:p.T1010T,MYLK:NM_053026:exon18:c.C3351T:p.T1117T,MYLK:NM_053028:exon18:c.C3351T:p.T1117T,MYLK:NM_053025:exon19:c.C3558T:p.T1186T,MYLK:NM_053027:exon19:c.C3558T:p.T1186T RS40305 2 hour glucose:LDL cholesterol:Total cholesterol:Cystatin C in serum
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 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 123665902 2 CCDC14 T G exonic nonsynonymous SNV CCDC14:NM_001308317:exon7:c.A493C:p.T165P,CCDC14:NM_022757:exon7:c.A970C:p.T324P RS17310144 Height:Diastolic blood pressure (DBP):Years of education:College completion: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 124728626 2 HEG1 A G exonic nonsynonymous SNV HEG1:NM_020733:exon8:c.T3116C:p.M1039T RS6438869 Gene expression of MUC13 in blood cells in Celiac disease:Schizophrenia:Total cholesterol:Obsessive-compulsive disorder (OCD)
3 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 126194076 2 ZXDC T C exonic synonymous SNV ZXDC:NM_001040653:exon1:c.A633G:p.P211P,ZXDC:NM_025112:exon1:c.A633G:p.P211P
3 126260608 1 CHST13 G T exonic synonymous SNV CHST13:NM_152889:exon3:c.G213T:p.R71R
3 126261202 1 CHST13 G A exonic synonymous SNV CHST13:NM_152889:exon3:c.G807A:p.T269T
3 126261207 1 CHST13 C T exonic nonsynonymous SNV CHST13:NM_152889:exon3:c.C812T:p.A271V
3 126261345 1 CHST13 G A exonic nonsynonymous SNV CHST13:NM_152889:exon3:c.G950A:p.R317Q RS1056522 Stabilized warfarin dose:Gene expression of CHST13 in blood cells in Celiac disease:Alzheimer's disease:Gene expression of CHST13 in CD4+ lymphocytes:Gene expression of CHST13 in blood:Gene expression of CHST13 [probeset 239647_at] in sputum:Paternal transmission distortion:Parkinson's disease:Birth weight
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 126451937 1 CHCHD6 G T exonic nonsynonymous SNV CHCHD6:NM_001320610:exon4:c.G283T:p.A95S,CHCHD6:NM_032343:exon4:c.G283T:p.A95S RS2272487 Lp-PLA2 mass:Asthma:Late onset Alzheimer's disease:Systolic blood pressure (SBP):Obesity with early age of onset (age >2):Aortic valve calcium:Hypertension (early onset hypertension)
3 126708453 1 PLXNA1 T C exonic synonymous SNV PLXNA1:NM_032242:exon1:c.T1017C:p.T339T
3 126726705 1 PLXNA1 A G exonic synonymous SNV PLXNA1:NM_032242:exon8:c.A2061G:p.T687T
3 126735453 1 PLXNA1 C T exonic synonymous SNV PLXNA1:NM_032242:exon15:c.C3108T:p.T1036T
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 126741011 1 PLXNA1 G A exonic synonymous SNV PLXNA1:NM_032242:exon21:c.G4122A:p.T1374T RS9289290 Years of education:Aortic valve calcium
3 127323830 1 MCM2 C T exonic synonymous SNV MCM2:NM_004526:exon4:c.C504T:p.I168I RS893293 HOMA-B:Gene expression of GPR175 in peripheral blood monocytes:Gene expression of ABTB1 in peripheral blood monocytes:Gene expression of ABTB1 (ENSG00000114626) in dendritic cells treated with Mycobacterium tuberculosis
3 127816187 1 RUVBL1 A T exonic synonymous SNV RUVBL1:NM_001319084:exon8:c.T972A:p.A324A,RUVBL1:NM_001319086:exon8:c.T792A:p.A264A,RUVBL1:NM_003707:exon8:c.T972A:p.A324A
3 127983495 2 EEFSEC T C exonic synonymous SNV EEFSEC:NM_021937:exon4:c.T657C:p.D219D RS2811544 Total cholesterol:Parkinson's disease
3 128344786 1 RPN1 G A exonic synonymous SNV RPN1:NM_002950:exon7:c.C1206T:p.D402D RS1126828 Refractive error:Adiponectin levels:Obesity with early age of onset (age >2)
3 128356852 1 RPN1 C T exonic synonymous SNV RPN1:NM_002950:exon3:c.G423A:p.P141P
3 128614185 1 ACAD9 A C exonic synonymous SNV ACAD9:NM_014049:exon4:c.A379C:p.R127R RS1680778 LDL cholesterol:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
3 128627933 1 ACAD9 C T exonic synonymous SNV ACAD9:NM_014049:exon14:c.C1476T:p.P492P RS876755 LDL cholesterol:Lung function, predicted ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):LDL cholesterol:Total cholesterol:IGP69:Advanced age-related macular degeneration
3 128890350 2 CNBP G A exonic synonymous SNV CNBP:NM_001127192:exon3:c.C156T:p.D52D,CNBP:NM_001127193:exon3:c.C156T:p.D52D,CNBP:NM_001127194:exon3:c.C135T:p.D45D,CNBP:NM_001127195:exon3:c.C135T:p.D45D,CNBP:NM_001127196:exon3:c.C135T:p.D45D,CNBP:NM_003418:exon3:c.C156T:p.D52D RS4303883 Height
3 129058882 2
3 129155670 1 MBD4 C T exonic nonsynonymous SNV MBD4:NM_001276270:exon3:c.G817A:p.A273T,MBD4:NM_001276271:exon3:c.G817A:p.A273T,MBD4:NM_001276272:exon3:c.G817A:p.A273T,MBD4:NM_003925:exon3:c.G817A:p.A273T RS10342 Gene expression of IFT122 in normal prepouch ileum
3 129275206 1 PLXND1 C T exonic synonymous SNV PLXND1:NM_015103:exon36:c.G5727A:p.Q1909Q RS11920311 LDL cholesterol:Total cholesterol:Triglycerides:Microalbuminuria:Bipolar disorder:Obesity with early age of onset (age >2):Refractive error
3 129281980 2 PLXND1 C T exonic nonsynonymous SNV PLXND1:NM_015103:exon26:c.G4625A:p.S1542N
3 129284818 1 PLXND1 A C exonic nonsynonymous SNV PLXND1:NM_015103:exon24:c.T4234G:p.L1412V RS2625973 Triglycerides:Fasting insulin:HOMA-IR:Fasting blood glucose:Triglycerides:Height:Adiponectin levels
3 129286413 1 PLXND1 G C exonic synonymous SNV PLXND1:NM_015103:exon22:c.C4008G:p.L1336L RS2245285 Type 2 diabetes:Fasting blood glucose:HOMA-IR:Fasting insulin:Serum creatinine:Triglycerides:Waist hip ratio:Adiponectin levels
3 129291751 1 PLXND1 T C exonic synonymous SNV PLXND1:NM_015103:exon14:c.A2871G:p.P957P RS2244708 Fasting blood glucose:HOMA-IR:Fasting insulin:Serum creatinine:Triglycerides:Height:Waist hip ratio:Coronary artery disease (CAD):Adiponectin levels
3 129293256 1 PLXND1 T C exonic nonsynonymous SNV PLXND1:NM_015103:exon12:c.A2608G:p.M870V RS2255703 Triglycerides:Differential exon level expression of PLXND1 [probe 2694874] in brain cortex:Fasting blood glucose:HOMA-IR:Fasting insulin:Serum creatinine:Triglycerides:Height:Waist hip ratio:Gene expression of IFT122 in blood:Serum ratio of (1-myristoylglycerophosphocholine)/(10-nonadecenoate (19:1n9)):Advanced age-related macular degeneration (geographic atrophy):Adiponectin levels:Refractive error:Tetrology of fallot
3 129297223 1 PLXND1 C G exonic synonymous SNV PLXND1:NM_015103:exon9:c.G2295C:p.T765T
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 129810127 2 ALG1L2 C T exonic nonsynonymous SNV ALG1L2:NM_001136152:exon2:c.C44T:p.P15L
3 129810174 2 ALG1L2 T C exonic nonsynonymous SNV ALG1L2:NM_001136152:exon2:c.T91C:p.F31L
3 129810183 2 ALG1L2 C G exonic nonsynonymous SNV ALG1L2:NM_001136152:exon2:c.C100G:p.L34V
3 129813318 2 ALG1L2 T C exonic nonsynonymous SNV ALG1L2:NM_001136152:exon5:c.T386C:p.I129T
3 131102053 1 NUDT16 A G exonic synonymous SNV NUDT16:NM_001171905:exon3:c.A318G:p.V106V,NUDT16:NM_152395:exon3:c.A456G:p.V152V
3 132257069 1 DNAJC13 G A exonic nonsynonymous SNV DNAJC13:NM_015268:exon56:c.G6675A:p.M2225I,DNAJC13:NM_001329126:exon57:c.G6690A:p.M2230I
3 132277866 1 ACAD11 G A exonic synonymous SNV ACAD11:NM_032169:exon20:c.C2292T:p.I764I RS2270801 Rheumatoid arthritis:2 hour glucose:Fasting insulin:HOMA-B:HOMA-IR:Chronic kidney disease:Triglycerides:Total cholesterol:LDL cholesterol:Height:Gene expression of NPHP3 in blood:Infant head circumference
3 132338346 1 ACAD11 T G exonic nonsynonymous SNV ACAD11:NM_032169:exon10:c.A1241C:p.K414T
3 132360883 2 ACAD11 C T exonic nonsynonymous SNV ACAD11:NM_032169:exon4:c.G470A:p.R157H
3 133329943 2 TOPBP1 G A exonic synonymous SNV TOPBP1:NM_007027:exon25:c.C4078T:p.L1360L RS1444601 Rheumatoid arthritis:Neuroblastoma (brain cancer):Late onset Alzheimer's disease:Gene expression of TOPBP1 [transcript NM_007027, probe A_23_P159390] in liver:Gene expression of CDV3 in blood:Years of education
3 133368362 2 TOPBP1 T G exonic nonsynonymous SNV TOPBP1:NM_007027:exon10:c.A1369C:p.K457Q RS3192149 Schizophrenia:Rheumatoid arthritis:Neuroblastoma (brain cancer):Microalbuminuria:Late onset Alzheimer's disease:Gene expression of CDV3 in blood:Years of education:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
3 133485133 2 TF A G exonic nonsynonymous SNV TF:NM_001063:exon12:c.A1342G:p.I448V
3 133921601 1 RYK C T exonic unknown UNKNOWN
3 133941320 1 RYK C T exonic unknown UNKNOWN RS1131262 Microalbuminuria:Urinary albumin-to-creatinine ratio:Mitral annular calcium
3 134077470 2 AMOTL2 C G exonic nonsynonymous SNV AMOTL2:NM_001278683:exon9:c.G2367C:p.E789D,AMOTL2:NM_001278685:exon9:c.G2187C:p.E729D,AMOTL2:NM_016201:exon9:c.G2196C:p.E732D RS1353776 Height:Body mass index (BMI):Microalbuminuria:Urinary albumin-to-creatinine ratio:Years of education
3 136573440 1 SLC35G2 A G exonic synonymous SNV SLC35G2:NM_001097599:exon2:c.A138G:p.G46G,SLC35G2:NM_001097600:exon2:c.A138G:p.G46G,SLC35G2:NM_025246:exon2:c.A138G:p.G46G RS9827648 Gene expression of probe 228799_at in lymphoblastoid cell lines:HDL cholesterol:Height:Body mass index (BMI):Birth weight
3 136574501 1 SLC35G2 A G exonic nonsynonymous SNV SLC35G2:NM_001097599:exon2:c.A1199G:p.K400R,SLC35G2:NM_001097600:exon2:c.A1199G:p.K400R,SLC35G2:NM_025246:exon2:c.A1199G:p.K400R RS1052618 Gene expression of probe 228799_at in lymphoblastoid cell lines:Schizophrenia:HDL cholesterol:Height:Body mass index (BMI):Gene expression of FNDC6 [probe ILMN_26767] in osteoblasts treated with BMP2:Resistance to kuru in aged women despite likely exposure:Birth weight:Hypertension (early onset hypertension)
3 137880743 1 DBR1 G A exonic synonymous SNV DBR1:NM_016216:exon8:c.C1623T:p.D541D RS2622736 PROP taste detection threshold
3 137881265 1 DBR1 T A exonic synonymous SNV DBR1:NM_016216:exon8:c.A1101T:p.T367T
3 138289221 1 CEP70 C T exonic nonsynonymous SNV CEP70:NM_001288965:exon5:c.G344A:p.S115N,CEP70:NM_001320600:exon5:c.G404A:p.S135N,CEP70:NM_001288964:exon6:c.G350A:p.S117N,CEP70:NM_001288966:exon6:c.G404A:p.S135N,CEP70:NM_001320598:exon6:c.G404A:p.S135N,CEP70:NM_001320599:exon6:c.G404A:p.S135N,CEP70:NM_024491:exon6:c.G404A:p.S135N RS1673607 LDL cholesterol:Differential exon level expression of CEP70 [probe 2697514] in brain cortex:Differential exon level expression of CEP70 [probe 2697514] in peripheral blood mononuclear cells:HOMA-IR:Total cholesterol:LDL cholesterol:Gene expression of FAIM in CD4+ lymphocytes:Gene expression of FAIM (probeID ILMN_1723268) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of FAIM (probeID ILMN_1723268) in cerebellum in Alzheimer's disease cases and controls:Gene expression of FAIM (probeID ILMN_1723268) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of FAIM (probeID ILMN_1723268) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of FAIM (probeID ILMN_1723268) in cerebellum in non-Alzheimer's disease samples:Birth weight:Gene expression of FAIM (probeID ILMN_1690101) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of FAIM (probeID ILMN_1723268) in cerebellum in Alzheimer's disease cases:Gene expression of FAIM (probeID ILMN_1690101) in cerebellum in Alzheimer's disease cases and controls:Gene expression of FAIM (probeID ILMN_1723268) in temporal cortex in Alzheimer's disease cases
3 142168331 2 ATR C T exonic synonymous SNV ATR:NM_001184:exon47:c.G7875A:p.Q2625Q
3 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 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 142408606 1 PLS1 G A exonic synonymous SNV PLS1:NM_001145319:exon10:c.G1128A:p.P376P,PLS1:NM_001172312:exon10:c.G1128A:p.P376P,PLS1:NM_002670:exon10:c.G1128A:p.P376P RS6793735 Cystatin C in serum:Total cholesterol:LDL cholesterol:Triglycerides:Mean corpuscular volume (MCV)
3 143704516 2 C3orf58 C T exonic synonymous SNV C3orf58:NM_001134470:exon2:c.C162T:p.L54L,C3orf58:NM_173552:exon2:c.C789T:p.L263L RS9847681 HDL cholesterol:LDL cholesterol:Total cholesterol:Serum creatinine:HDL cholesterol
3 148876582 1 HPS3 C G exonic nonsynonymous SNV HPS3:NM_001308258:exon9:c.C1326G:p.I442M,HPS3:NM_032383:exon10:c.C1821G:p.I607M
3 148916235 2 CP T A exonic nonsynonymous SNV CP:NM_000096:exon9:c.A1632T:p.E544D RS701753 Serum creatinine
3 149192676 2 TM4SF4 G A exonic synonymous SNV TM4SF4:NM_004617:exon1:c.G12A:p.G4G RS12488126 Triglycerides:HOMA-B:HDL cholesterol:Triglycerides change with statins:HDL cholesterol change with statins
3 149678534 1 RNF13 C T exonic synonymous SNV RNF13:NM_183381:exon10:c.C789T:p.H263H,RNF13:NM_007282:exon11:c.C789T:p.H263H RS6768054 Irritible bowel syndrome:Tardive dyskinesia:Gene expression of COMMD2 in peripheral blood monocytes:Triglycerides:Stroke (pediatric stroke)
3 153994596 2
3 154018887 1 DHX36 G C exonic nonsynonymous SNV DHX36:NM_001114397:exon10:c.C1247G:p.S416C,DHX36:NM_020865:exon10:c.C1247G:p.S416C RS9438 LDL cholesterol:Body mass index (BMI):Years of education
3 155481609 1 C3orf33 G A exonic synonymous SNV C3orf33:NM_001308229:exon5:c.C582T:p.Y194Y,C3orf33:NM_173657:exon6:c.C453T:p.Y151Y RS7653384 Body mass index (BMI)
3 155485302 2 C3orf33 C T exonic nonsynonymous SNV C3orf33:NM_001308229:exon4:c.G479A:p.S160N,C3orf33:NM_173657:exon5:c.G350A:p.S117N RS358733 Amyotrophic lateral sclerosis (ALS):Gene expression of HIST1H2BE in peripheral blood monocytes:Partial epilepsy:Waist hip ratio:Gene expression of C3orf33 [transcript NM_173657, probe A_23_P301476] in liver:Years of education
3 155571275 1 SLC33A1 T C exonic nonsynonymous SNV SLC33A1:NM_001190992:exon1:c.A512G:p.D171G,SLC33A1:NM_004733:exon1:c.A512G:p.D171G RS3804769 Abnormal Involuntary Movement Scale
3 158362441 1 GFM1 T C exonic synonymous SNV GFM1:NM_001308164:exon1:c.T18C:p.A6A,GFM1:NM_001308166:exon1:c.T18C:p.A6A,GFM1:NM_024996:exon1:c.T18C:p.A6A RS1864507 Total cholesterol:Gene expression of RARRES1 (probeID ILMN_1800091) in cerebellum in Alzheimer's disease cases and controls:Gene expression of RARRES1 (probeID ILMN_1800091) in temporal cortex in Alzheimer's disease cases and controls:Infant head circumference
3 158366900 1 GFM1 G A exonic nonsynonymous SNV GFM1:NM_001308164:exon5:c.G643A:p.V215I,GFM1:NM_001308166:exon5:c.G643A:p.V215I,GFM1:NM_024996:exon5:c.G643A:p.V215I RS2303909 Triglycerides:Total cholesterol:Triglycerides:Gene expression of GFM1 [probe ILMN_9765] in osteoblasts treated with PGE2:Gene expression of MFSD1 [probe ILMN_29705] in osteoblasts treated with BMP2:Gene expression of LXN///GFM1 in blood:Gene expression of GFM1 in blood:Diastolic blood pressure (DBP):Hypertension (early onset hypertension):Gene expression of RARRES1 (probeID ILMN_1800091) in cerebellum in Alzheimer's disease cases:Gene expression of RARRES1 (probeID ILMN_1800091) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of RARRES1 (probeID ILMN_1800091) in cerebellum in non-Alzheimer's disease samples:Gene expression of RARRES1 (probeID ILMN_1800091) in cerebellum in Alzheimer's disease cases and controls:Gene expression of RARRES1 (probeID ILMN_1800091) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of RARRES1 (probeID ILMN_1800091) in temporal cortex in Alzheimer's disease cases:Gene expression of RARRES1 (probeID ILMN_1800091) in temporal cortex in Progressive Supranuclear Palsy cases
3 158538056 1 MFSD1 T C exonic synonymous SNV MFSD1:NM_001167903:exon8:c.T834C:p.L278L,MFSD1:NM_001289406:exon8:c.T513C:p.L171L,MFSD1:NM_001289407:exon9:c.T585C:p.L195L,MFSD1:NM_022736:exon9:c.T951C:p.L317L
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 171338237 1 PLD1 T G exonic synonymous SNV PLD1:NM_001130081:exon23:c.A2553C:p.V851V,PLD1:NM_002662:exon24:c.A2667C:p.V889V RS9881788 Alzheimer's disease:LDL cholesterol change with statins:Total cholesterol change with statins:LDL cholesterol:Total cholesterol:Variant Creutzfeldt-Jakob disease:Advanced age-related macular degeneration:Adiponectin levels:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Refractive error
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 172224303 2 TNFSF10 A G exonic synonymous SNV TNFSF10:NM_003810:exon5:c.T825C:p.F275F RS1131532 Height
3 172365832 1 NCEH1 T G exonic nonsynonymous SNV NCEH1:NM_001146276:exon2:c.A307C:p.K103Q,NCEH1:NM_020792:exon2:c.A307C:p.K103Q RS2302815 Arthritis including non-Rheumatoid:Total cholesterol:Aortic valve calcium
3 179051472 1 ZNF639 A G exonic synonymous SNV ZNF639:NM_001303426:exon6:c.A720G:p.E240E,ZNF639:NM_001303425:exon7:c.A720G:p.E240E,ZNF639:NM_016331:exon7:c.A720G:p.E240E
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 182681740 2 DCUN1D1 C T exonic synonymous SNV DCUN1D1:NM_001308101:exon3:c.G273A:p.A91A,DCUN1D1:NM_020640:exon3:c.G318A:p.A106A RS4859146 2 hour glucose:Parkinson's disease:Acute lung injury following major trauma:Attention deficit-hyperactivity disorder (ADHD) combined subtype
3 182790249 1 MCCC1 G A exonic synonymous SNV MCCC1:NM_020166:exon5:c.C396T:p.L132L RS7622479 Fasting insulin:HOMA-IR:Fasting blood glucose:Triglycerides:College completion
3 183368216 1 KLHL24 A T exonic synonymous SNV KLHL24:NM_001349415:exon2:c.A72T:p.R24R,KLHL24:NM_001349421:exon2:c.A72T:p.R24R,KLHL24:NM_001349423:exon2:c.A72T:p.R24R,KLHL24:NM_001349426:exon2:c.A72T:p.R24R,KLHL24:NM_001349413:exon3:c.A72T:p.R24R,KLHL24:NM_001349414:exon3:c.A72T:p.R24R,KLHL24:NM_001349416:exon3:c.A72T:p.R24R,KLHL24:NM_001349422:exon3:c.A72T:p.R24R,KLHL24:NM_001349424:exon3:c.A72T:p.R24R,KLHL24:NM_001349425:exon3:c.A72T:p.R24R,KLHL24:NM_017644:exon3:c.A72T:p.R24R,KLHL24:NM_001349417:exon4:c.A72T:p.R24R,KLHL24:NM_001349418:exon4:c.A72T:p.R24R,KLHL24:NM_001349419:exon4:c.A72T:p.R24R,KLHL24:NM_001349420:exon4:c.A72T:p.R24R,KLHL24:NM_001349427:exon4:c.A72T:p.R24R RS3755648 Fasting insulin:Height:Body mass index (BMI)
3 183521939 2 YEATS2 C T exonic synonymous SNV YEATS2:NM_001351369:exon27:c.C3747T:p.S1249S,YEATS2:NM_001351370:exon27:c.C3750T:p.S1250S,YEATS2:NM_018023:exon27:c.C3747T:p.S1249S
3 183584473 1 PARL A G exonic synonymous SNV PARL:NM_001037639:exon3:c.T402C:p.G134G,PARL:NM_001324436:exon3:c.T402C:p.G134G,PARL:NM_001324437:exon3:c.T402C:p.G134G,PARL:NM_001324438:exon3:c.T402C:p.G134G,PARL:NM_018622:exon3:c.T402C:p.G134G
3 183660585 1 ABCC5 G A exonic synonymous SNV ABCC5:NM_001320032:exon25:c.C2208T:p.L736L,ABCC5:NM_005688:exon25:c.C3624T:p.L1208L RS3749442 Spine bone mineral density (BMD):Hip bone mineral density (BMD):Eye color:2 hour glucose:Gene expression of ABCC5 in blood:Serum ratio of (1-docosahexaenoylglycerophosphocholine*)/(2-linoleoylglycerophosphocholine*):PROP taste detection threshold:Hypertension (early onset hypertension):Diabetic retinopathy in Type 2 diabetes mellitus
3 183696402 2 ABCC5 A G exonic synonymous SNV ABCC5:NM_005688:exon9:c.T1185C:p.A395A RS1132776 Body mass index (BMI):Bipolar disorder
3 183904049 1 ABCF3 A G exonic synonymous SNV ABCF3:NM_001351298:exon1:c.A54G:p.Q18Q,ABCF3:NM_018358:exon1:c.A54G:p.Q18Q RS11539876 Serum ratio of (glycodeoxycholate)/(thromboxane B2):Sporadic Creutzfeldt-Jakob disease
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 183976103 1 ECE2 C T exonic nonsynonymous SNV ECE2:NM_032331:exon3:c.C508T:p.R170W RS11546878 Comorbid depressive syndrome and alcohol dependence:Gene expression change of ALG3 (ENSG00000214160) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of ALG3 (ENSG00000214160) in dendritic cells treated with Mycobacterium tuberculosis
3 184020542 1 PSMD2 G T exonic nonsynonymous SNV PSMD2:NM_001278708:exon5:c.G549T:p.E183D,PSMD2:NM_001278709:exon5:c.G462T:p.E154D,PSMD2:NM_002808:exon7:c.G939T:p.E313D RS11545169 HDL cholesterol change with statins:Height:Birth weight:Parkinson's disease:College completion:Years of education
3 184037533 2 EIF4G1 A G exonic nonsynonymous SNV EIF4G1:NM_198244:exon4:c.A220G:p.T74A,EIF4G1:NM_182917:exon6:c.A481G:p.T161A,EIF4G1:NM_001194947:exon7:c.A502G:p.T168A,EIF4G1:NM_001291157:exon7:c.A361G:p.T121A,EIF4G1:NM_198241:exon7:c.A481G:p.T161A,EIF4G1:NM_001194946:exon8:c.A502G:p.T168A
3 184039666 2 EIF4G1 A G exonic nonsynonymous SNV EIF4G1:NM_004953:exon3:c.A706G:p.M236V,EIF4G1:NM_198242:exon6:c.A802G:p.M268V,EIF4G1:NM_198244:exon7:c.A1033G:p.M345V,EIF4G1:NM_182917:exon9:c.A1294G:p.M432V,EIF4G1:NM_001194947:exon10:c.A1315G:p.M439V,EIF4G1:NM_001291157:exon10:c.A1174G:p.M392V,EIF4G1:NM_198241:exon10:c.A1294G:p.M432V,EIF4G1:NM_001194946:exon11:c.A1315G:p.M439V RS2178403 Total cholesterol:Asthma:Height:Waist hip ratio:Body mass index (BMI):Neuroblastoma (brain cancer):Gene expression of AP2M1 in blood:Gene expression of [probe 450403 centered at chr3:185509257] in blood:Gene expression of VWA5B2///ALG3 in blood:Parkinson's disease:Mitral annular calcium:Primary rhegmatogenous retinal detachment
3 184046470 1 EIF4G1 C T exonic synonymous SNV EIF4G1:NM_004953:exon20:c.C3420T:p.H1140H,EIF4G1:NM_198242:exon23:c.C3513T:p.H1171H,EIF4G1:NM_198244:exon24:c.C3744T:p.H1248H,EIF4G1:NM_182917:exon26:c.C4008T:p.H1336H,EIF4G1:NM_001194947:exon27:c.C4026T:p.H1342H,EIF4G1:NM_001291157:exon27:c.C3885T:p.H1295H,EIF4G1:NM_198241:exon27:c.C4005T:p.H1335H,EIF4G1:NM_001194946:exon28:c.C4026T:p.H1342H RS2230571 Longstanding arthritis:Rheumatoid arthritis:Differential exon level expression of ECE2 [probe 2655640] in brain cortex:Serum creatinine:Adolescent idiopathic scoliosis:Gene expression of VWA5B2///ALG3 in blood:Gene expression of [probe 450403 centered at chr3:185509257] in blood:Gene expression of AP2M1 in blood:College completion
3 184098193 2 CHRD A C exonic synonymous SNV CHRD:NM_001304472:exon1:c.A87C:p.P29P,CHRD:NM_003741:exon1:c.A87C:p.P29P
3 184099378 2 CHRD C A exonic synonymous SNV CHRD:NM_001304472:exon4:c.C477A:p.G159G,CHRD:NM_003741:exon4:c.C477A:p.G159G
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 184910133 1 EHHADH G T exonic nonsynonymous SNV EHHADH:NM_001166415:exon7:c.C1765A:p.Q589K,EHHADH:NM_001966:exon7:c.C2053A:p.Q685K RS11919970 Premature ovarian failure:2 hour glucose:HDL cholesterol:Height:Serum ratio of (10-heptadecenoate (17:1n7))/(dihomo-linolenate (20:3n3 or n6)):Serum metabolite (mass spec peak: 358.2 m/z)
3 186301703 1 DNAJB11 A G exonic nonsynonymous SNV DNAJB11:NM_016306:exon8:c.A790G:p.I264V RS8147 Urinary albumin-to-creatinine ratio:Gene expression of HRG [transcript NM_000412, probe A_32_P23172] in liver:Serum concentration of ursodeoxycholate:Systolic blood pressure (SBP):PROP taste detection threshold:Years of education:College completion
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 186337713 2 AHSG T C exonic nonsynonymous SNV AHSG:NM_001622:exon6:c.T743C:p.M248T RS4917 Spine bone mineral density (BMD):2 hour glucose:Serum ratio of (1-oleoylglycerophosphocholine)/(1-stearoylglycerophosphocholine):Obesity with early age of onset (age >2):Adiponectin levels:Activated partial thromboplastin time:P02765 protein abundance levels
3 186338382 2 AHSG G C exonic nonsynonymous SNV AHSG:NM_001622:exon7:c.G767C:p.S256T RS4918 2 hour glucose:Activated partial thromboplastin time:Adiponectin levels:Obesity with early age of onset (age >2):P02765 protein abundance levels
3 186338425 2 AHSG A C exonic synonymous SNV AHSG:NM_001622:exon7:c.A810C:p.T270T RS1071592 HDL cholesterol change with statins:P02765 protein abundance levels:Activated partial thromboplastin time:Adiponectin levels:Infant head circumference
3 186370333 2 FETUB G T exonic synonymous SNV FETUB:NM_001308079:exon5:c.G867T:p.V289V,FETUB:NM_001308077:exon6:c.G951T:p.V317V,FETUB:NM_014375:exon7:c.G1062T:p.V354V RS1131364 Triglycerides:Adiponectin levels:Activated partial thromboplastin time
3 186954285 2 MASP1 A G exonic synonymous SNV MASP1:NM_139125:exon11:c.T1374C:p.P458P
3 187447002 1 BCL6 C G exonic nonsynonymous SNV BCL6:NM_001134738:exon4:c.G1191C:p.Q397H,BCL6:NM_001130845:exon5:c.G1191C:p.Q397H,BCL6:NM_001706:exon5:c.G1191C:p.Q397H
3 187447032 1 BCL6 G A exonic synonymous SNV BCL6:NM_001134738:exon4:c.C1161T:p.N387N,BCL6:NM_001130845:exon5:c.C1161T:p.N387N,BCL6:NM_001706:exon5:c.C1161T:p.N387N RS1056932 LDL cholesterol:Total cholesterol:Lp-PLA2 activity:Rheumatoid arthritis:HDL cholesterol:Height:Suicide attempts in bipolar disorder (substance free):Years of education:College completion
3 190030680 2 CLDN1 A G exonic synonymous SNV CLDN1:NM_021101:exon2:c.T369C:p.G123G RS9869263 HOMA-B:Lung function, ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC) ratio percent predicted (in asthmatic participants):Lung function, forced expiratory volume in 1 second (FEV1) percent predicted (in asthmatic participants):Diabetic retinopathy in Type 2 diabetes mellitus
3 190363594 1 IL1RAP G A exonic synonymous SNV IL1RAP:NM_001167929:exon10:c.G1308A:p.K436K,IL1RAP:NM_001167931:exon11:c.G1308A:p.K436K,IL1RAP:NM_002182:exon11:c.G1308A:p.K436K,IL1RAP:NM_001167928:exon12:c.G1308A:p.K436K
3 191087740 1 CCDC50 A T exonic nonsynonymous SNV CCDC50:NM_174908:exon5:c.A363T:p.L121F,CCDC50:NM_178335:exon5:c.A363T:p.L121F
3 191107358 1 CCDC50 C T exonic nonsynonymous SNV CCDC50:NM_174908:exon10:c.C868T:p.R290W,CCDC50:NM_178335:exon11:c.C1396T:p.R466W
3 194061826 1 CPN2 C T exonic nonsynonymous SNV CPN2:NM_001080513:exon2:c.G1606A:p.V536M,CPN2:NM_001291988:exon2:c.G1606A:p.V536M RS11711157 Hip bone mineral density (BMD):Spine bone mineral density (BMD):Spine bone mineral density (BMD):Hip bone mineral density (BMD):Gene expression of probeset 2658628 in osteoblasts:Gene expression of probeset 2711775 in lymphoblastoid cell lines:Simpson-Angus Scale:HDL cholesterol change with statins:Advanced age-related macular degeneration (geographic atrophy):Aortic valve calcium:Mitral annular calcium:Advanced age-related macular degeneration
3 194061906 2 CPN2 T C exonic nonsynonymous SNV CPN2:NM_001080513:exon2:c.A1526G:p.Q509R,CPN2:NM_001291988:exon2:c.A1526G:p.Q509R
3 194061907 1 CPN2 G A exonic stopgain CPN2:NM_001080513:exon2:c.C1525T:p.Q509X,CPN2:NM_001291988:exon2:c.C1525T:p.Q509X
3 194062519 1 CPN2 C T exonic nonsynonymous SNV CPN2:NM_001080513:exon2:c.G913A:p.A305T,CPN2:NM_001291988:exon2:c.G913A:p.A305T RS3732477 Spine bone mineral density (BMD):Hip bone mineral density (BMD):Spine bone mineral density (BMD):Hip bone mineral density (BMD):Gene expression of probeset 2658628 in osteoblasts:Gene expression of probeset 2711775 in lymphoblastoid cell lines:Simpson-Angus Scale:HDL cholesterol change with statins:Gene expression of GJD3 in peripheral blood monocytes:Advanced age-related macular degeneration (geographic atrophy):Mitral annular calcium:Advanced age-related macular degeneration:Aortic valve calcium:Maternal transmission distortion
3 194062565 2 CPN2 C T exonic synonymous SNV CPN2:NM_001080513:exon2:c.G867A:p.P289P,CPN2:NM_001291988:exon2:c.G867A:p.P289P RS3732476 Triglycerides:Diabetic retinopathy in Type 2 diabetes mellitus
3 194063153 1 CPN2 G A exonic synonymous SNV CPN2:NM_001080513:exon2:c.C279T:p.F93F,CPN2:NM_001291988:exon2:c.C279T:p.F93F RS3732474 HDL cholesterol change with statins:Triglycerides change with statins:Advanced age-related macular degeneration (geographic atrophy)
3 194063300 2 CPN2 T C exonic synonymous SNV CPN2:NM_001080513:exon2:c.A132G:p.P44P,CPN2:NM_001291988:exon2:c.A132G:p.P44P
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 195452951 1 MUC20 G C exonic nonsynonymous SNV MUC20:NM_001282506:exon2:c.G1477C:p.D493H,MUC20:NM_001291833:exon4:c.G964C:p.D322H,MUC20:NM_020790:exon4:c.G1021C:p.D341H,MUC20:NM_152673:exon4:c.G964C:p.D322H
3 195594805 1 TNK2 A G exonic synonymous SNV TNK2:NM_001308046:exon12:c.T2415C:p.A805A,TNK2:NM_005781:exon12:c.T2319C:p.A773A,TNK2:NM_001010938:exon13:c.T2553C:p.A851A
3 195594950 1 TNK2 G A exonic nonsynonymous SNV TNK2:NM_001308046:exon12:c.C2270T:p.P757L,TNK2:NM_005781:exon12:c.C2174T:p.P725L,TNK2:NM_001010938:exon13:c.C2408T:p.P803L
3 196460680 2 PIGX C T exonic synonymous SNV PIGX:NM_017861:exon6:c.C684T:p.T228T,PIGX:NM_001166304:exon7:c.C738T:p.T246T
3 196674518 1 PIGZ A G exonic nonsynonymous SNV PIGZ:NM_025163:exon3:c.T1250C:p.V417A RS1147238 Chronic kidney disease:Gene expression of NCBP2 (ENSG00000114503) in dendritic cells treated with Mycobacterium tuberculosis
3 196674916 2 PIGZ A C exonic synonymous SNV PIGZ:NM_025163:exon3:c.T852G:p.A284A
3 196674972 1 PIGZ C T exonic nonsynonymous SNV PIGZ:NM_025163:exon3:c.G796A:p.A266T
3 196674973 1 PIGZ T C exonic synonymous SNV PIGZ:NM_025163:exon3:c.A795G:p.A265A
3 196742290 2 MELTF T C exonic synonymous SNV MELTF:NM_005929:exon9:c.A1179G:p.P393P RS9855410 C4:1 / lysoPC a C6:0:C9:Gene expression of SIT1 in peripheral blood monocytes
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 673778 1 MYL5 T C exonic nonsynonymous SNV MYL5:NM_002477:exon4:c.T263C:p.F88S
4 843508 1 GAK C T exonic nonsynonymous SNV GAK:NM_001318134:exon25:c.G3652A:p.D1218N,GAK:NM_005255:exon28:c.G3889A:p.D1297N RS1134921 Celiac disease:Psoriasis:Triglycerides:HDL cholesterol:Differential exon level expression of GAK [probe 2756747] in brain cortex:Gene expression of GAK in blood:Gene expression of AC019103.4///DGKQ in blood:Parkinson's disease
4 843695 1 GAK A G exonic synonymous SNV GAK:NM_001318134:exon24:c.T3582C:p.A1194A,GAK:NM_005255:exon27:c.T3819C:p.A1273A
4 858941 2 GAK T C exonic synonymous SNV GAK:NM_001318134:exon20:c.A2898G:p.A966A,GAK:NM_005255:exon23:c.A3135G:p.A1045A
4 860192 1 GAK A G exonic synonymous SNV GAK:NM_001318134:exon19:c.T2766C:p.S922S,GAK:NM_005255:exon22:c.T3003C:p.S1001S RS1064207 Triglycerides:Triglycerides:Parkinson's disease
4 982852 1 SLC26A1 G A exonic synonymous SNV SLC26A1:NM_022042:exon3:c.C1875T:p.A625A,SLC26A1:NM_213613:exon4:c.C1875T:p.A625A
4 983060 1 SLC26A1 T C exonic nonsynonymous SNV SLC26A1:NM_022042:exon3:c.A1667G:p.Q556R,SLC26A1:NM_213613:exon4:c.A1667G:p.Q556R RS3796622 Gene expression of DGKQ [probe 226605_at] in lymphoblastoid cell lines:Triglycerides:Gene expression of DGKQ in blood cells in Celiac disease:Total cholesterol:Autism with verbal ability:Gene expression of DGKQ in CD4+ lymphocytes:Asthma:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression of IDUA in blood:Gene expression of AC019103.4///DGKQ in blood:Serum concentration of 1-arachidonoylglycerophosphoinositol*:Infant head circumference
4 983809 1 SLC26A1 C T exonic synonymous SNV SLC26A1:NM_022042:exon3:c.G918A:p.S306S,SLC26A1:NM_213613:exon4:c.G918A:p.S306S RS4690221 Comorbid depressive syndrome and alcohol dependence:Salmonella-induced pyroptosis
4 1006333 1 FGFRL1 G A exonic synonymous SNV FGFRL1:NM_021923:exon1:c.G60A:p.P20P,FGFRL1:NM_001004356:exon2:c.G60A:p.P20P,FGFRL1:NM_001004358:exon2:c.G60A:p.P20P
4 1330759 1 MAEA T C exonic nonsynonymous SNV MAEA:NM_001297431:exon5:c.T676C:p.W226R
4 1343405 1 UVSSA T C exonic synonymous SNV UVSSA:NM_001317934:exon3:c.T192C:p.I64I,UVSSA:NM_001317935:exon3:c.T192C:p.I64I,UVSSA:NM_020894:exon3:c.T192C:p.I64I RS2276903 Fasting blood glucose:HOMA-IR:Fasting insulin:HDL cholesterol change with statins:Gene expression of CRIPAK in peripheral blood monocytes:Gene expression of AVP in peripheral blood monocytes:Gene expression of SPTBN4 in peripheral blood monocytes:Bipolar disorder
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 1741437 1 TACC3 G T exonic synonymous SNV TACC3:NM_006342:exon11:c.G1950T:p.A650A
4 1807894 2 FGFR3 G A exonic synonymous SNV FGFR3:NM_022965:exon12:c.G1617A:p.T539T,FGFR3:NM_000142:exon14:c.G1953A:p.T651T,FGFR3:NM_001163213:exon14:c.G1959A:p.T653T
4 1818594 2 LETM1 C T exonic synonymous SNV LETM1:NM_012318:exon12:c.G1791A:p.K597K
4 2044128 2 C4orf48 C T exonic nonsynonymous SNV C4orf48:NM_001141936:exon2:c.C50T:p.P17L,C4orf48:NM_001168243:exon2:c.C149T:p.P50L
4 2743999 2 TNIP2 A G exonic synonymous SNV TNIP2:NM_001292016:exon5:c.T1026C:p.A342A,TNIP2:NM_001161527:exon6:c.T954C:p.A318A,TNIP2:NM_024309:exon6:c.T1275C:p.A425A RS232712 LDL cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Parkinson's disease:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
4 2744087 2 TNIP2 G A exonic nonsynonymous SNV TNIP2:NM_001292016:exon5:c.C938T:p.A313V,TNIP2:NM_001161527:exon6:c.C866T:p.A289V,TNIP2:NM_024309:exon6:c.C1187T:p.A396V RS2269495 Rheumatoid arthritis:Asparagine:tau-Methylhistidine:College completion:Mitral annular calcium:Years of education:Birth weight
4 2826400 2 SH3BP2 T C exonic synonymous SNV SH3BP2:NM_001122681:exon4:c.T300C:p.H100H,SH3BP2:NM_001145855:exon4:c.T384C:p.H128H,SH3BP2:NM_001145856:exon4:c.T471C:p.H157H,SH3BP2:NM_003023:exon4:c.T300C:p.H100H RS3213501 HDL cholesterol:Triglycerides:Advanced age-related macular degeneration:Gene expression of ADD1 (ENSG00000087274) in dendritic cells:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
4 2831383 2 SH3BP2 T G exonic synonymous SNV SH3BP2:NM_001122681:exon8:c.T750G:p.A250A,SH3BP2:NM_001145855:exon8:c.T834G:p.A278A,SH3BP2:NM_001145856:exon8:c.T921G:p.A307A,SH3BP2:NM_003023:exon8:c.T750G:p.A250A RS231399 Arthritis including non-Rheumatoid:HOMA-IR:Fasting insulin:HOMA-B
4 2935618 1 MFSD10 C G exonic synonymous SNV MFSD10:NM_001120:exon1:c.G33C:p.P11P,MFSD10:NM_001146069:exon2:c.G33C:p.P11P
4 3219613 2 HTT A C exonic synonymous SNV HTT:NM_002111:exon52:c.A7176C:p.L2392L
4 3231661 1 HTT G A exonic synonymous SNV HTT:NM_002111:exon60:c.G8157A:p.L2719L RS2276881 Serum concentration of phenylacetate:Diastolic blood pressure (DBP):Tetrology of fallot
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 3319553 1 RGS12 C T exonic synonymous SNV RGS12:NM_002926:exon2:c.C1656T:p.S552S,RGS12:NM_198229:exon2:c.C1656T:p.S552S RS2281470 Estimated total intracranial volume (excluding patients with neuropsychiatric disorders):Adiponectin levels
4 3444593 1 HGFAC G A exonic synonymous SNV HGFAC:NM_001297439:exon2:c.G252A:p.P84P,HGFAC:NM_001528:exon2:c.G252A:p.P84P
4 3446091 1 HGFAC G T exonic nonsynonymous SNV HGFAC:NM_001297439:exon6:c.G652T:p.A218S,HGFAC:NM_001528:exon6:c.G652T:p.A218S
4 3446132 1 HGFAC C G exonic nonsynonymous SNV HGFAC:NM_001297439:exon6:c.C693G:p.F231L,HGFAC:NM_001528:exon6:c.C693G:p.F231L
4 3449886 1 HGFAC G A exonic synonymous SNV HGFAC:NM_001528:exon13:c.G1668A:p.E556E,HGFAC:NM_001297439:exon14:c.G1689A:p.E563E
4 4190577 2 OTOP1 G C exonic nonsynonymous SNV OTOP1:NM_177998:exon6:c.C1792G:p.R598G
4 4276132 2 LYAR T C exonic nonsynonymous SNV LYAR:NM_001145725:exon7:c.A794G:p.H265R,LYAR:NM_017816:exon7:c.A794G:p.H265R
4 6293696 2 WFS1 C G exonic synonymous SNV WFS1:NM_001145853:exon6:c.C684G:p.R228R,WFS1:NM_006005:exon6:c.C684G:p.R228R
4 6302519 2 WFS1 G A exonic nonsynonymous SNV WFS1:NM_001145853:exon8:c.G997A:p.V333I,WFS1:NM_006005:exon8:c.G997A:p.V333I RS1801212 Type 2 diabetes:Abnormal Involuntary Movement Scale:Tardive dyskinesia:Fasting blood glucose:Gene expression of ANKRD26 in peripheral blood monocytes:Microalbuminuria:Variant Creutzfeldt-Jakob disease:Type 2 diabetes, end stage renal disease
4 6302707 2 WFS1 C T exonic synonymous SNV WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005:exon8:c.C1185T:p.V395V RS1801206 Fasting blood glucose:Total cholesterol:Methylation levels at chr4:6322037-6322087 [hg18 coord, probe cg25554036] in Caudal pons:Gene expression of WFS1 in peripheral blood monocytes:Mitral annular calcium
4 6303022 2 WFS1 C T exonic synonymous SNV WFS1:NM_001145853:exon8:c.C1500T:p.N500N,WFS1:NM_006005:exon8:c.C1500T:p.N500N RS1801214 Fasting blood glucose:Type 2 diabetes:Type 2 diabetes, age of onset:Fasting blood glucose:Type 2 diabetes without obesity:Microalbuminuria:Type 2 diabetes (males):Type 2 diabetes:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Type 2 diabetes (females):Type 2 diabetes:Type 2 diabetes (males):Type 2 diabetes
4 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 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 8228731 2 SH3TC1 T C exonic nonsynonymous SNV SH3TC1:NM_001318480:exon12:c.T1082C:p.L361P,SH3TC1:NM_018986:exon12:c.T1310C:p.L437P
4 8228894 2 SH3TC1 T C exonic synonymous SNV SH3TC1:NM_001318480:exon12:c.T1245C:p.D415D,SH3TC1:NM_018986:exon12:c.T1473C:p.D491D
4 8229218 2 SH3TC1 A G exonic synonymous SNV SH3TC1:NM_001318480:exon12:c.A1569G:p.L523L,SH3TC1:NM_018986:exon12:c.A1797G:p.L599L
4 8229326 2 SH3TC1 T C exonic synonymous SNV SH3TC1:NM_001318480:exon12:c.T1677C:p.P559P,SH3TC1:NM_018986:exon12:c.T1905C:p.P635P
4 8242466 2 SH3TC1 A G exonic synonymous SNV SH3TC1:NM_001318480:exon18:c.A3567G:p.A1189A,SH3TC1:NM_018986:exon18:c.A3795G:p.A1265A
4 9909923 1 SLC2A9 G A exonic nonsynonymous SNV SLC2A9:NM_020041:exon8:c.C1049T:p.P350L,SLC2A9:NM_001001290:exon9:c.C962T:p.P321L RS2280205 Uric acid:Uric acid:HDL cholesterol:Uric acid:Methylation levels at chr9:35947934-35947984 [hg18 coord, probe cg26922202] in Frontal cortex:Methylation levels at chr9:35947934-35947984 [hg18 coord, probe cg26922202] in Temporal cortex:Methylation levels at chr9:35947934-35947984 [hg18 coord, probe cg26922202] in Caudal pons:Serum urate:Serum ratio of (phenylacetylglutamine)/(valerate):Variant Creutzfeldt-Jakob disease:Sporadic Creutzfeldt-Jakob disease:Gene expression of SLC2A9 (probeID ILMN_1668312) in temporal cortex in Alzheimer's disease cases and controls:Serum urate:Gene expression of SLC2A9 in normal prepouch ileum:Gene expression of SLC2A9 (probeID ILMN_1668312) in cerebellum in Alzheimer's disease cases and controls
4 9922167 2 SLC2A9 C T exonic nonsynonymous SNV SLC2A9:NM_020041:exon7:c.G844A:p.V282I,SLC2A9:NM_001001290:exon8:c.G757A:p.V253I RS16890979 Uric acid in serum:Uric acid:Alanine aminotransferase (ALT) (females):HDL cholesterol (female):Ratio of cholesterol to HDL (woman):Gout:Uric acid:Gout (male):Gout (female):Uric acid (females):Uric acid (males):Uric acid:Urate:Serum urate:Gout:Serum urate:Serum concentration of urate:Uric acid:Comorbid depressive syndrome and alcohol dependence:Serum urate:Uric acid in serum:Gout
4 10099340 2 WDR1 T C exonic nonsynonymous SNV WDR1:NM_017491:exon5:c.A553G:p.I185V RS13441 Type 2 diabetes:Birth weight
4 13604418 1 BOD1L1 G C exonic nonsynonymous SNV BOD1L1:NM_148894:exon10:c.C4106G:p.A1369G RS17745712 HDL cholesterol change with statins:Triglycerides
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 17829990 1 NCAPG G C exonic nonsynonymous SNV NCAPG:NM_022346:exon12:c.G1743C:p.M581I
4 23815924 2 PPARGC1A T C exonic synonymous SNV PPARGC1A:NM_001330753:exon7:c.A801G:p.T267T,PPARGC1A:NM_013261:exon8:c.A1182G:p.T394T,PPARGC1A:NM_001330752:exon9:c.A1146G:p.T382T,PPARGC1A:NM_001330751:exon10:c.A1197G:p.T399T RS2970847 HDL cholesterol:Waist hip ratio
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 25363901 2 ZCCHC4 T A exonic nonsynonymous SNV ZCCHC4:NM_024936:exon10:c.T1187A:p.L396H RS315675 HDL cholesterol:Cystatin C in serum:Methylation levels at chr4:24987356-24987406 [hg18 coord, probe cg13918811] in Frontal cortex:Refractive error:Advanced age-related macular degeneration (geographic atrophy)
4 25419283 1 ANAPC4 T C exonic synonymous SNV ANAPC4:NM_001286756:exon28:c.T2124C:p.F708F,ANAPC4:NM_013367:exon28:c.T2121C:p.F707F RS9174 Cystatin C in serum:Body mass index (BMI):PROP taste detection threshold:College completion:Aortic valve calcium:Advanced age-related macular degeneration:Gene expression of ANAPC4 in normal prepouch ileum
4 26417136 1 RBPJ T C exonic synonymous SNV RBPJ:NM_015874:exon4:c.T195C:p.S65S,RBPJ:NM_203283:exon4:c.T189C:p.S63S,RBPJ:NM_005349:exon5:c.T234C:p.S78S,RBPJ:NM_203284:exon5:c.T192C:p.S64S
4 26432576 1 RBPJ G A exonic nonsynonymous SNV RBPJ:NM_015874:exon11:c.G1411A:p.A471T,RBPJ:NM_203283:exon11:c.G1405A:p.A469T,RBPJ:NM_005349:exon12:c.G1450A:p.A484T,RBPJ:NM_203284:exon12:c.G1408A:p.A470T
4 37836302 2 PGM2 T C exonic synonymous SNV PGM2:NM_018290:exon3:c.T312C:p.S104S
4 37851856 2 PGM2 A C exonic nonsynonymous SNV PGM2:NM_018290:exon12:c.A1464C:p.E488D RS10001580 Schizophrenia:Fasting insulin:HOMA-IR:HDL cholesterol:Partial epilepsy:Resistance to kuru in aged women despite likely exposure:Sporadic Creutzfeldt-Jakob disease:Refractive error:Infant head circumference
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 38023302 1 TBC1D1 C G exonic synonymous SNV TBC1D1:NM_001253912:exon6:c.C1173G:p.P391P,TBC1D1:NM_015173:exon6:c.C1173G:p.P391P
4 38055862 1 TBC1D1 G C exonic synonymous SNV TBC1D1:NM_015173:exon12:c.G1953C:p.G651G,TBC1D1:NM_001253912:exon14:c.G2235C:p.G745G
4 38879949 1 FAM114A1 G A exonic nonsynonymous SNV FAM114A1:NM_001350632:exon2:c.G250A:p.G84R,FAM114A1:NM_001350635:exon2:c.G250A:p.G84R,FAM114A1:NM_138389:exon3:c.G250A:p.G84R RS11096964 Fasting insulin:Total cholesterol:Refractive error
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 38945169 1 FAM114A1 A G exonic synonymous SNV FAM114A1:NM_001350633:exon13:c.A1302G:p.A434A,FAM114A1:NM_001350634:exon13:c.A1089G:p.A363A,FAM114A1:NM_001330764:exon14:c.A1062G:p.A354A,FAM114A1:NM_001350632:exon14:c.A1677G:p.A559A,FAM114A1:NM_138389:exon15:c.A1683G:p.A561A RS1060582 Total cholesterol change with statins:Rheumatoid arthritis:Height
4 39082777 1 KLHL5 C G exonic synonymous SNV KLHL5:NM_199039:exon2:c.C576G:p.V192V,KLHL5:NM_001171654:exon3:c.C198G:p.V66V,KLHL5:NM_015990:exon3:c.C759G:p.V253V,KLHL5:NM_001007075:exon4:c.C621G:p.V207V
4 39116911 1 KLHL5 T C exonic synonymous SNV KLHL5:NM_199039:exon9:c.T1989C:p.T663T,KLHL5:NM_001171654:exon10:c.T1611C:p.T537T,KLHL5:NM_015990:exon10:c.T2172C:p.T724T,KLHL5:NM_001007075:exon11:c.T2034C:p.T678T RS3733276 Height
4 39207318 1 WDR19 A G exonic synonymous SNV WDR19:NM_001317924:exon8:c.A372G:p.S124S,WDR19:NM_025132:exon9:c.A852G:p.S284S RS17584431 Gene expression of LEAP-2 in peripheral blood monocytes:HDL cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression change of WDR19 (ENSG00000157796) in dendritic cells after treatment with Mycobacterium tuberculosis
4 39306471 1 RFC1 C G exonic nonsynonymous SNV RFC1:NM_001204747:exon15:c.G2076C:p.E692D,RFC1:NM_002913:exon15:c.G2073C:p.E691D
4 39448542 2 KLB C G exonic synonymous SNV KLB:NM_175737:exon4:c.C2196G:p.P732P RS7685429 HOMA-B:Fasting insulin:HOMA-IR:LDL cholesterol change with statins:Total cholesterol change with statins:Total cholesterol:Aortic valve calcium
4 39510264 1 UGDH A G exonic synonymous SNV UGDH:NM_001184700:exon6:c.T627C:p.C209C,UGDH:NM_001184701:exon6:c.T537C:p.C179C,UGDH:NM_003359:exon7:c.T828C:p.C276C
4 39515736 1 UGDH A G exonic synonymous SNV UGDH:NM_001184700:exon3:c.T231C:p.D77D,UGDH:NM_003359:exon3:c.T231C:p.D77D RS10019532 Diastolic blood pressure (DBP):Gene expression change of LIAS (ENSG00000121897) in dendritic cells after treatment with Mycobacterium tuberculosis
4 40121635 1 N4BP2 A T exonic nonsynonymous SNV N4BP2:NM_018177:exon9:c.A1904T:p.E635V,N4BP2:NM_001318359:exon10:c.A1664T:p.E555V
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 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 41015823 2 APBB2 G A exonic synonymous SNV APBB2:NM_001330658:exon5:c.C612T:p.G204G,APBB2:NM_001166050:exon6:c.C612T:p.G204G,APBB2:NM_001330656:exon6:c.C612T:p.G204G,APBB2:NM_004307:exon6:c.C612T:p.G204G,APBB2:NM_173075:exon6:c.C612T:p.G204G
4 41015899 2 APBB2 C T exonic nonsynonymous SNV APBB2:NM_001330658:exon5:c.G536A:p.R179Q,APBB2:NM_001166050:exon6:c.G536A:p.R179Q,APBB2:NM_001330656:exon6:c.G536A:p.R179Q,APBB2:NM_004307:exon6:c.G536A:p.R179Q,APBB2:NM_173075:exon6:c.G536A:p.R179Q RS4861358 Stabilized warfarin dose:Late onset Alzheimer's disease:Serum ratio of (5-dodecenoate (12:1n7))/(myristoleate (14:1n5)):Resistance to kuru in aged women despite likely exposure:Advanced age-related macular degeneration (geographic atrophy):Tetrology of fallot
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 47887991 2 NFXL1 G A exonic synonymous SNV NFXL1:NM_001278623:exon13:c.C1569T:p.T523T,NFXL1:NM_001278624:exon13:c.C1569T:p.T523T,NFXL1:NM_152995:exon13:c.C1569T:p.T523T RS6818556 Rheumatoid arthritis:Methylation levels at chr4:47650718-47650768 [hg18 coord, probe cg19000186] in Temporal cortex:Methylation levels at chr4:47650718-47650768 [hg18 coord, probe cg19000186] in Caudal pons:Methylation levels at chr4:47650718-47650768 [hg18 coord, probe cg19000186] in Frontal cortex:Methylation levels at chr4:47650718-47650768 [hg18 coord, probe cg19000186] in Cerebellum:Total cholesterol:Gene expression of NIPAL1 in normal prepouch ileum:Adiponectin levels
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 56262374 1 TMEM165 A G exonic synonymous SNV TMEM165:NM_018475:exon1:c.A18G:p.P6P
4 57204777 1 AASDH A C exonic nonsynonymous SNV AASDH:NM_001286670:exon12:c.T1633G:p.Y545D,AASDH:NM_001286668:exon14:c.T2788G:p.Y930D,AASDH:NM_001286669:exon14:c.T2629G:p.Y877D,AASDH:NM_001323899:exon14:c.T1957G:p.Y653D,AASDH:NM_181806:exon15:c.T3088G:p.Y1030D,AASDH:NM_001323890:exon16:c.T3205G:p.Y1069D RS8340 Irritible bowel syndrome:Fasting blood glucose:HDL cholesterol:Height:Variant Creutzfeldt-Jakob disease:Diabetic retinopathy in Type 2 diabetes mellitus:Paternal transmission distortion:Hypertension (early onset hypertension):Transmission distortion
4 57211352 1 AASDH T C exonic nonsynonymous SNV AASDH:NM_001286670:exon9:c.A1138G:p.T380A,AASDH:NM_001286668:exon11:c.A2293G:p.T765A,AASDH:NM_001286669:exon11:c.A2134G:p.T712A,AASDH:NM_001323899:exon11:c.A1462G:p.T488A,AASDH:NM_181806:exon12:c.A2593G:p.T865A,AASDH:NM_001323890:exon13:c.A2710G:p.T904A RS12498340 Abnormal Involuntary Movement Scale:Tardive dyskinesia:Fasting blood glucose:Rheumatoid arthritis:Height:Gene expression of PPAT [probeset 209433_s_at] in sputum:Variant Creutzfeldt-Jakob disease:Paternal transmission distortion:Diabetic retinopathy in Type 2 diabetes mellitus:Transmission distortion
4 57215677 1 AASDH G A exonic nonsynonymous SNV AASDH:NM_001286670:exon8:c.C785T:p.A262V,AASDH:NM_001286668:exon10:c.C1940T:p.A647V,AASDH:NM_001286669:exon10:c.C1781T:p.A594V,AASDH:NM_001323893:exon10:c.C1781T:p.A594V,AASDH:NM_001323899:exon10:c.C1109T:p.A370V,AASDH:NM_001286671:exon11:c.C2240T:p.A747V,AASDH:NM_001286672:exon11:c.C2240T:p.A747V,AASDH:NM_001323890:exon11:c.C2240T:p.A747V,AASDH:NM_001323892:exon11:c.C2240T:p.A747V,AASDH:NM_181806:exon11:c.C2240T:p.A747V RS3796544 Gene expression of PPAT [probe 209433_s_at] in lymphoblastoid cell lines:Differential exon level expression of PPAT [probe 2770259] in brain cortex:Differential exon level expression of PPAT [probe 2770259] in peripheral blood mononuclear cells:Gene expression of AASDH in CD4+ lymphocytes:Gene expression of AC098587.3 in blood:Serum ratio of (1-linoleoylglycerol (1-monolinolein))/(gamma-glutamylisoleucine*):Gene expression of PPAT [probeset 209433_s_at] in sputum:Gene expression of AASDH [probeset 235435_at] in sputum:Gene expression of AASDH [probeset 228041_at] in sputum:Comorbid depressive syndrome and alcohol dependence:Hypertension (early onset hypertension):Advanced age-related macular degeneration
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 57219613 1 AASDH C T exonic synonymous SNV AASDH:NM_001286670:exon6:c.G78A:p.P26P,AASDH:NM_001286668:exon8:c.G1233A:p.P411P,AASDH:NM_001286669:exon8:c.G1074A:p.P358P,AASDH:NM_001323893:exon8:c.G1074A:p.P358P,AASDH:NM_001323899:exon8:c.G402A:p.P134P,AASDH:NM_001286671:exon9:c.G1533A:p.P511P,AASDH:NM_001286672:exon9:c.G1533A:p.P511P,AASDH:NM_001323890:exon9:c.G1533A:p.P511P,AASDH:NM_001323892:exon9:c.G1533A:p.P511P,AASDH:NM_181806:exon9:c.G1533A:p.P511P RS17086696 Fasting blood glucose:HOMA-B:HDL cholesterol:Height:Diabetic retinopathy in Type 2 diabetes mellitus
4 57237683 1 AASDH G A exonic synonymous SNV AASDH:NM_001286668:exon4:c.C495T:p.S165S,AASDH:NM_001286669:exon4:c.C336T:p.S112S,AASDH:NM_001323893:exon4:c.C336T:p.S112S,AASDH:NM_001286671:exon5:c.C795T:p.S265S,AASDH:NM_001286672:exon5:c.C795T:p.S265S,AASDH:NM_001323890:exon5:c.C795T:p.S265S,AASDH:NM_001323892:exon5:c.C795T:p.S265S,AASDH:NM_181806:exon5:c.C795T:p.S265S RS6554354 Gene expression of PPAT [probe 209433_s_at] in lymphoblastoid cell lines:Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration
4 57273840 1 PPAT C G exonic synonymous SNV PPAT:NM_002703:exon2:c.G171C:p.S57S
4 57333822 2 SRP72 G T exonic synonymous SNV SRP72:NM_001267722:exon1:c.G21T:p.G7G,SRP72:NM_006947:exon1:c.G21T:p.G7G
4 57843320 2 NOA1 A G exonic synonymous SNV NOA1:NM_032313:exon1:c.T432C:p.C144C
4 57876955 1 POLR2B G A exonic synonymous SNV POLR2B:NM_001303268:exon11:c.G1365A:p.A455A,POLR2B:NM_000938:exon12:c.G1590A:p.A530A,POLR2B:NM_001303269:exon13:c.G1569A:p.A523A RS1718878 Total cholesterol:Exudative age-related macular degeneration: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:Gene expression of POLR2B in normal prepouch ileum
4 57881715 1 POLR2B G A exonic synonymous SNV POLR2B:NM_001303268:exon13:c.G1623A:p.T541T,POLR2B:NM_000938:exon14:c.G1848A:p.T616T,POLR2B:NM_001303269:exon15:c.G1827A:p.T609T RS1713982 Differential exon level expression of POLR2B [probe 2728468] in brain cortex:Differential exon level expression of POLR2B [probe 2728478] in brain cortex:Total cholesterol:Advanced age-related macular degeneration:Gene expression of POLR2B in normal prepouch ileum:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
4 57889677 1 POLR2B C T exonic synonymous SNV POLR2B:NM_001303268:exon18:c.C2472T:p.S824S,POLR2B:NM_000938:exon19:c.C2697T:p.S899S,POLR2B:NM_001303269:exon20:c.C2676T:p.S892S RS1056364 Gene expression of POLR2B in lymphoblastoid cell lines:HDL cholesterol:Cystatin C in serum:Exudative age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Years of education:Advanced age-related macular degeneration:College completion
4 68374597 2 CENPC C T exonic synonymous SNV CENPC:NM_001812:exon10:c.G1839A:p.S613S
4 68384008 2 CENPC C T exonic synonymous SNV CENPC:NM_001812:exon7:c.G696A:p.S232S RS355510 Total cholesterol:Chronic kidney disease
4 68500171 1 UBA6 A G exonic synonymous SNV UBA6:NM_018227:exon21:c.T1908C:p.H636H
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 69964271 2 UGT2B7 A G exonic synonymous SNV UGT2B7:NM_001074:exon2:c.A735G:p.T245T,UGT2B7:NM_001330719:exon2:c.A735G:p.T245T
4 69964337 2 UGT2B7 A T exonic synonymous SNV UGT2B7:NM_001074:exon2:c.A801T:p.P267P,UGT2B7:NM_001330719:exon2:c.A801T:p.P267P,UGT2B7:NM_001349568:exon3:c.A54T:p.P18P
4 69964338 2 UGT2B7 T C exonic nonsynonymous SNV UGT2B7:NM_001074:exon2:c.T802C:p.Y268H,UGT2B7:NM_001330719:exon2:c.T802C:p.Y268H,UGT2B7:NM_001349568:exon3:c.T55C:p.Y19H RS7439366 Gene expression of Hs.479894 in CHB lymphoblastoid cell lines:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
4 70155416 2 UGT2B28 G A exonic nonsynonymous SNV UGT2B28:NM_053039:exon4:c.G1036A:p.A346T
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 73942678 1 ANKRD17 C T exonic synonymous SNV ANKRD17:NM_198889:exon32:c.G6978A:p.T2326T,ANKRD17:NM_001286771:exon33:c.G7392A:p.T2464T,ANKRD17:NM_015574:exon33:c.G7728A:p.T2576T,ANKRD17:NM_032217:exon33:c.G7731A:p.T2577T RS2306058 Abnormal Involuntary Movement Scale:Barnes Akathisia Rating Scale:Tardive dyskinesia:Triglycerides:Body mass index (BMI):Bipolar disorder:Tetrology of fallot:Oral cancer in patients with long term tobacco chewing habit
4 73991006 2 ANKRD17 T C exonic synonymous SNV ANKRD17:NM_198889:exon16:c.A2505G:p.A835A,ANKRD17:NM_001286771:exon17:c.A2919G:p.A973A,ANKRD17:NM_015574:exon17:c.A3255G:p.A1085A,ANKRD17:NM_032217:exon17:c.A3258G:p.A1086A
4 74285239 1 ALB C T exonic synonymous SNV ALB:NM_000477:exon13:c.C1668T:p.L556L
4 76878688 1 SDAD1 G A exonic synonymous SNV SDAD1:NM_001288983:exon18:c.C1641T:p.D547D,SDAD1:NM_001288984:exon19:c.C1461T:p.D487D,SDAD1:NM_018115:exon19:c.C1752T:p.D584D RS2242470 Gene expression of ASAHL in CEU lymphoblastoid cell lines:Serum creatinine:Autism:Gene expression of NAAA (probeID ILMN_2391512) in cerebellum in Alzheimer's disease cases and controls:Gene expression of NAAA (probeID ILMN_2391512) in temporal cortex in Alzheimer's disease cases and controls
4 76878716 1 SDAD1 G C exonic nonsynonymous SNV SDAD1:NM_001288983:exon18:c.C1613G:p.S538C,SDAD1:NM_001288984:exon19:c.C1433G:p.S478C,SDAD1:NM_018115:exon19:c.C1724G:p.S575C RS2242471 Gene expression of ASAHL in CEU-CHB-JPT-YRI lymphoblastoid cell lines:LDL cholesterol change with statins:Total cholesterol change with statins:Lp-PLA2 mass:NAAA gene expression:Gene expression of NAAA (probeID ILMN_2391512) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of NAAA (probeID ILMN_1668605) in cerebellum in Alzheimer's disease cases and controls:Gene expression of NAAA (probeID ILMN_2391512) in cerebellum in Alzheimer's disease cases and controls:Gene expression of NAAA (probeID ILMN_1668605) in temporal cortex in Alzheimer's disease cases and controls
4 79240063 2 FRAS1 A G exonic nonsynonymous SNV FRAS1:NM_001166133:exon18:c.A2060G:p.D687G,FRAS1:NM_025074:exon18:c.A2060G:p.D687G RS345513 Longstanding arthritis:Serum creatinine:Cystatin C in serum:Autism with low IQ:Microalbuminuria
4 79284694 2 FRAS1 C T exonic nonsynonymous SNV FRAS1:NM_001166133:exon21:c.C2450T:p.A817V,FRAS1:NM_025074:exon21:c.C2450T:p.A817V RS6835769 Schizophrenia:Response to Lithium Treatment for Bipolar disorder:Premature ovarian failure:Hair morphology:LDL cholesterol:Systolic blood pressure (SBP):Age at death with kuru exposure
4 79300993 1 FRAS1 G A exonic nonsynonymous SNV FRAS1:NM_001166133:exon27:c.G3406A:p.E1136K,FRAS1:NM_025074:exon27:c.G3406A:p.E1136K RS12512164 Hip bone mineral density (BMD):LDL cholesterol:Total cholesterol:Serum ratio of (glycochenodeoxycholate)/(indolelactate):PROP taste detection threshold:Age at death with kuru exposure
4 79343111 1 FRAS1 G A exonic synonymous SNV FRAS1:NM_001166133:exon34:c.G4635A:p.P1545P,FRAS1:NM_025074:exon34:c.G4635A:p.P1545P
4 79387464 2 FRAS1 A G exonic nonsynonymous SNV FRAS1:NM_025074:exon50:c.A7132G:p.K2378E RS7684722 Tardive dyskinesia
4 79421011 1 FRAS1 G T exonic synonymous SNV FRAS1:NM_025074:exon61:c.G9252T:p.R3084R
4 79443837 1 FRAS1 A T exonic nonsynonymous SNV FRAS1:NM_025074:exon69:c.A10683T:p.E3561D
4 79443850 1 FRAS1 G A exonic nonsynonymous SNV FRAS1:NM_025074:exon69:c.G10696A:p.V3566I RS931606 2 hour glucose:Gene expression of [probe 1230148 centered at chr4:79821519] in blood:Serum concentration of gamma-glutamylisoleucine*:Age at death with kuru exposure:College completion
4 83347266 1 HNRNPDL A G exonic synonymous SNV HNRNPDL:NM_001207000:exon6:c.T1038C:p.Y346Y,HNRNPDL:NM_031372:exon7:c.T1209C:p.Y403Y
4 83348652 1 HNRNPDL T C exonic synonymous SNV HNRNPDL:NM_001207000:exon4:c.A840G:p.T280T,HNRNPDL:NM_031372:exon4:c.A840G:p.T280T
4 83350763 1 HNRNPDL G A exonic synonymous SNV HNRNPDL:NM_001207000:exon1:c.C81T:p.L27L,HNRNPDL:NM_031372:exon1:c.C81T:p.L27L
4 83748733 1 SEC31A G A exonic nonsynonymous SNV SEC31A:NM_001300744:exon21:c.C2621T:p.P874L,SEC31A:NM_001300745:exon22:c.C2918T:p.P973L,SEC31A:NM_016211:exon22:c.C2963T:p.P988L,SEC31A:NM_001077206:exon23:c.C2738T:p.P913L,SEC31A:NM_001191049:exon23:c.C3020T:p.P1007L,SEC31A:NM_001077207:exon24:c.C3080T:p.P1027L,SEC31A:NM_001077208:exon24:c.C3035T:p.P1012L,SEC31A:NM_001318119:exon24:c.C3035T:p.P1012L,SEC31A:NM_001318120:exon26:c.C3080T:p.P1027L
4 83765605 1 SEC31A C A exonic nonsynonymous SNV SEC31A:NM_001300744:exon19:c.G2443T:p.A815S,SEC31A:NM_001300745:exon19:c.G2443T:p.A815S,SEC31A:NM_016211:exon19:c.G2443T:p.A815S,SEC31A:NM_001191049:exon20:c.G2545T:p.A849S,SEC31A:NM_001077206:exon21:c.G2560T:p.A854S,SEC31A:NM_001077207:exon21:c.G2560T:p.A854S,SEC31A:NM_001077208:exon21:c.G2560T:p.A854S,SEC31A:NM_001318119:exon21:c.G2560T:p.A854S,SEC31A:NM_001318120:exon23:c.G2560T:p.A854S
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 83795806 2 SEC31A T C exonic synonymous SNV SEC31A:NM_001191049:exon5:c.A582G:p.R194R,SEC31A:NM_001077206:exon6:c.A597G:p.R199R,SEC31A:NM_001077207:exon6:c.A597G:p.R199R,SEC31A:NM_001077208:exon6:c.A597G:p.R199R,SEC31A:NM_001300744:exon6:c.A597G:p.R199R,SEC31A:NM_001300745:exon6:c.A597G:p.R199R,SEC31A:NM_001318119:exon6:c.A597G:p.R199R,SEC31A:NM_016211:exon6:c.A597G:p.R199R,SEC31A:NM_001318120:exon8:c.A597G:p.R199R RS10025654 2 hour glucose:Adiponectin levels
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 83838262 2 THAP9 G T exonic nonsynonymous SNV THAP9:NM_024672:exon5:c.G897T:p.L299F,THAP9:NM_001317776:exon6:c.G465T:p.L155F RS897945 Gene expression of SCD5 [probe 224901_at] in lymphoblastoid cell lines:Gene expression of SEC31A [probe 215009_s_at] in lymphoblastoid cell lines:Eye color:Atopy:Allergic rhinitis:Gene expression of SCD5 in blood:Maternal transmission distortion:Transmission distortion
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 84188850 1 COQ2 G A exonic synonymous SNV COQ2:NM_015697:exon6:c.C990T:p.S330S
4 84191031 1 COQ2 A G exonic synonymous SNV COQ2:NM_015697:exon5:c.T894C:p.D298D RS6535454 Adiponectin levels:Advanced age-related macular degeneration (geographic atrophy):Aortic valve calcium
4 84374480 1 HELQ C T exonic nonsynonymous SNV HELQ:NM_001297755:exon2:c.G916A:p.V306I,HELQ:NM_001297758:exon2:c.G805A:p.V269I,HELQ:NM_001297759:exon2:c.G916A:p.V306I,HELQ:NM_133636:exon2:c.G916A:p.V306I RS1494961 Waist circumference in Type 2 diabetes:Neuroticism:Lung cancer:LDL cholesterol:Schizophrenia:Premature ovarian failure:Barnes Akathisia Rating Scale:Gene expression of ENOPH1 [probe 217956_s_at] in prefrontal cortex:LDL cholesterol:Urinary albumin-to-creatinine ratio:Upper aero-digestive tract cancer:Lung cancer:Gene expression of FAM175A [probeset 226521_s_at] in sputum:Gene expression of MRPS18C (probeID ILMN_2085903) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MRPS18C (probeID ILMN_2085903) in temporal cortex in Alzheimer's disease cases:Gene expression of MRPS18C (probeID ILMN_2085903) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of MRPS18C (probeID ILMN_2085903) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of MRPS18C (probeID ILMN_2085903) in cerebellum in Alzheimer's disease cases:Gene expression of MRPS18C (probeID ILMN_2085903) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of MRPS18C (probeID ILMN_2085903) in temporal cortex in non-Alzheimer's disease samples:Gene expression of MRPS18C (probeID ILMN_2085903) in cerebellum in non-Alzheimer's disease samples
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 84383735 1 ABRAXAS1 C T exonic nonsynonymous SNV ABRAXAS1:NM_001345962:exon8:c.G790A:p.D264N,ABRAXAS1:NM_139076:exon9:c.G1117A:p.D373N RS13125836 Barnes Akathisia Rating Scale:Waist hip ratio:Birth weight
4 84383810 1 ABRAXAS1 C T exonic nonsynonymous SNV ABRAXAS1:NM_001345962:exon8:c.G715A:p.A239T,ABRAXAS1:NM_139076:exon9:c.G1042A:p.A348T RS12642536 Serum concentration of n-Butyl Oleate:Gene expression of MRPS18C (probeID ILMN_2085903) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MRPS18C (probeID ILMN_2085903) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of MRPS18C in normal prepouch ileum
4 84406205 1 ABRAXAS1 C T exonic synonymous SNV ABRAXAS1:NM_139076:exon1:c.G21A:p.S7S
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 88293887 2 HSD17B11 G A exonic synonymous SNV HSD17B11:NM_016245:exon4:c.C531T:p.V177V RS6531985 Spine bone mineral density (BMD):LDL cholesterol:Gene expression of DHRS8 in blood:Serum ratio of (deoxycholate)/(indoleacetate):Age at death with kuru exposure:Sporadic Creutzfeldt-Jakob disease:Birth weight:Gene expression of HSD17B13 (probeID ILMN_2204576) in cerebellum in Alzheimer's disease cases and controls:Parkinson's disease:Gene expression of HSD17B13 (probeID ILMN_2204576) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of HSD17B13 in normal prepouch ileum
4 88902692 1 SPP1 T C exonic synonymous SNV SPP1:NM_001251829:exon4:c.T159C:p.D53D,SPP1:NM_000582:exon5:c.T240C:p.D80D,SPP1:NM_001040060:exon5:c.T201C:p.D67D,SPP1:NM_001040058:exon6:c.T282C:p.D94D,SPP1:NM_001251830:exon7:c.T321C:p.D107D RS4754 Serum creatinine:Triglycerides:Serum concentration of lysine
4 88903853 1 SPP1 C T exonic synonymous SNV SPP1:NM_001251829:exon5:c.C627T:p.A209A,SPP1:NM_000582:exon6:c.C708T:p.A236A,SPP1:NM_001040060:exon6:c.C669T:p.A223A,SPP1:NM_001040058:exon7:c.C750T:p.A250A,SPP1:NM_001251830:exon8:c.C789T:p.A263A
4 95170839 1 SMARCAD1 G A exonic nonsynonymous SNV SMARCAD1:NM_001128429:exon7:c.G740A:p.S247N,SMARCAD1:NM_001128430:exon7:c.G740A:p.S247N,SMARCAD1:NM_020159:exon7:c.G740A:p.S247N RS11722476 Irritible bowel syndrome:Schizophrenia:Differential exon level expression of SMARCAD1 [probe 2736280] in brain cortex:Differential exon level expression of SMARCAD1 [probe 2736280] in peripheral blood mononuclear cells:Barnes Akathisia Rating Scale:2 hour glucose:Fasting blood glucose:Total cholesterol change with statins:Triglycerides change with statins:Lp-PLA2 activity:LDL cholesterol:Serum ratio of (1-methylxanthine)/(arabinose):Bipolar disorder:Capecitabine sensitivity:Transmission distortion:Birth weight:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
4 95197520 1 SMARCAD1 C T exonic synonymous SNV SMARCAD1:NM_001254949:exon7:c.C549T:p.D183D,SMARCAD1:NM_001128429:exon15:c.C1839T:p.D613D,SMARCAD1:NM_001128430:exon15:c.C1839T:p.D613D,SMARCAD1:NM_020159:exon15:c.C1839T:p.D613D RS6823404 LDL cholesterol change with statins:Total cholesterol change with statins:Triglycerides:Bipolar disorder:Birth weight:Gene expression of SMARCAD1 (ENSG00000163104) in dendritic cells treated with Mycobacterium tuberculosis
4 95496882 1 PDLIM5 C T exonic nonsynonymous SNV PDLIM5:NM_001256428:exon4:c.C41T:p.S14F,PDLIM5:NM_006457:exon5:c.C407T:p.S136F RS2452600 Irritible bowel syndrome:Prostate cancer:Alzheimer's disease:Serum creatinine:Neuroblastoma (brain cancer):Urinary albumin-to-creatinine ratio:Gene expression of PDLIM5 in blood:Serum ratio of (glycine)/(serine):Diastolic blood pressure (DBP):Birth weight:Salmonella-induced pyroptosis:Aortic valve calcium
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 100048414 2 ADH4 T C exonic nonsynonymous SNV ADH4:NM_000670:exon7:c.A925G:p.I309V,ADH4:NM_001306171:exon8:c.A982G:p.I328V,ADH4:NM_001306172:exon8:c.A982G:p.I328V RS1126671 Schizophrenia:HOMA-IR:Fasting insulin:HOMA-B:Hostility (Left amygdala activation):Total cholesterol:LDL cholesterol:Triglycerides:HDL cholesterol:Serum ratio of (3-methylhistidine)/(bilirubin (E,E)*):Birth weight:Gene expression of ADH4 in normal prepouch ileum:Gene expression of ADH5 in normal prepouch ileum
4 100052733 2 ADH4 C A exonic synonymous SNV ADH4:NM_000670:exon6:c.G765T:p.P255P,ADH4:NM_001306171:exon7:c.G822T:p.P274P,ADH4:NM_001306172:exon7:c.G822T:p.P274P RS1126670 Schizophrenia:HOMA-IR:Fasting insulin:HOMA-B:FVII in plasma:Total cholesterol:LDL cholesterol:Triglycerides:HDL cholesterol:Serum ratio of (3-methylhistidine)/(bilirubin (E,E)*):Birth weight
4 100062819 2 ADH4 A G exonic synonymous SNV ADH4:NM_000670:exon3:c.T135C:p.S45S,ADH4:NM_001306171:exon4:c.T192C:p.S64S,ADH4:NM_001306172:exon4:c.T192C:p.S64S RS2032349 Partial epilepsy:Serum ratio of (serine)/(uridine)
4 100140306 2 ADH6 A T exonic nonsynonymous SNV ADH6:NM_000672:exon1:c.T4A:p.C2S,ADH6:NM_001102470:exon1:c.T4A:p.C2S
4 100496105 1 MTTP C G exonic synonymous SNV MTTP:NM_000253:exon2:c.C39G:p.S13S RS7667001 Obesity with early age of onset (age >2)
4 100510859 1 MTTP T C exonic synonymous SNV MTTP:NM_001300785:exon4:c.T534C:p.G178G,MTTP:NM_000253:exon5:c.T453C:p.G151G RS991811 Gene expression of ZNF268 in liver:Gene expression of BC033397 in liver:Gene expression of PKN2 in liver:Gene expression of DNAJB14 in liver:Premature ovarian failure:LDL cholesterol:Total cholesterol:HDL cholesterol:Serum concentration of stachydrine:Sporadic Creutzfeldt-Jakob disease:Hypertension (early onset hypertension)
4 100518247 1 MTTP C A exonic synonymous SNV MTTP:NM_001300785:exon8:c.C1014A:p.T338T,MTTP:NM_000253:exon9:c.C933A:p.T311T RS17029213 Autism:Comorbid depressive syndrome and alcohol dependence:Obesity with early age of onset (age >2)
4 100521805 1 MTTP A C exonic nonsynonymous SNV MTTP:NM_001300785:exon9:c.A1232C:p.D411A,MTTP:NM_000253:exon10:c.A1151C:p.D384A RS17029215 HOMA-B:Systolic blood pressure (SBP):Comorbid depressive syndrome and alcohol dependence
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 103555992 2 MANBA A G exonic synonymous SNV MANBA:NM_005908:exon16:c.T2368C:p.L790L RS2272697 Differential splicing of MANBA [probeset 2779932] in lymphoblastoid cell lines:HOMA-B:Fasting blood glucose:Serum creatinine:Height:Body mass index (BMI):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Mitral annular calcium
4 103557077 2 MANBA G A exonic nonsynonymous SNV MANBA:NM_005908:exon15:c.C2102T:p.T701M RS2866413 Irritible bowel syndrome:Differential splicing of MANBA [probeset 2779932] in lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:Serum creatinine:Primary biliary cirrhosis (antimitochondrial-antibody positive only):Primary biliary cirrhosis:Breast cancer:Height:Primary biliary cirrhosis:Gene expression of MANBA in blood:Primary biliary cirrhosis:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Mitral annular calcium
4 106604190 1 INTS12 A G exonic synonymous SNV INTS12:NM_001142471:exon7:c.T1089C:p.P363P,INTS12:NM_020395:exon8:c.T1089C:p.P363P RS35370743 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
4 106604364 1 INTS12 A G exonic synonymous SNV INTS12:NM_001142471:exon7:c.T915C:p.P305P,INTS12:NM_020395:exon8:c.T915C:p.P305P
4 108575989 2 PAPSS1 G A exonic synonymous SNV PAPSS1:NM_005443:exon8:c.C963T:p.D321D RS3733633 Triglycerides change with statins:Diabetic retinopathy in Type 2 diabetes mellitus
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 108641317 1 PAPSS1 G A exonic synonymous SNV PAPSS1:NM_005443:exon1:c.C19T:p.L7L
4 110638810 1 PLA2G12A C T exonic synonymous SNV PLA2G12A:NM_030821:exon3:c.G345A:p.E115E RS2285714 LDL cholesterol:HOMA-B:Total cholesterol:LDL cholesterol:Age-related macular degeneration:Age-related macular degeneration (neovascular):Age-related macular degeneration (geographic atrophy):Age-related macular degeneration (large drusen):Height:Contig27275_RC gene expression in liver tissue:Gene expression of CASP6 (probeID ILMN_2367113) in cerebellum in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Gene expression of CASP6 (probeID ILMN_1659350) in cerebellum in Alzheimer's disease cases and controls:Gene expression of CASP6 (probeID ILMN_2367113) in cerebellum in Alzheimer's disease cases:Birth weight: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 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 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 119652606 1 SEC24D G T exonic synonymous SNV SEC24D:NM_001318066:exon21:c.C2736A:p.S912S,SEC24D:NM_014822:exon21:c.C2733A:p.S911S
4 119736701 1 SEC24D G A exonic nonsynonymous SNV SEC24D:NM_001318066:exon5:c.C578T:p.P193L,SEC24D:NM_014822:exon5:c.C578T:p.P193L RS6844109 Salmonella-induced pyroptosis
4 119736796 1 SEC24D A C exonic synonymous SNV SEC24D:NM_001318066:exon5:c.T483G:p.P161P,SEC24D:NM_014822:exon5:c.T483G:p.P161P RS2389688 Gene expression change of SEC24D (ENSG00000150961) in dendritic cells after treatment with Mycobacterium tuberculosis
4 120181724 2 USP53 A G exonic synonymous SNV USP53:NM_019050:exon10:c.A738G:p.T246T
4 122737965 1 EXOSC9 G C exonic nonsynonymous SNV EXOSC9:NM_005033:exon12:c.G1274C:p.S425T,EXOSC9:NM_001034194:exon13:c.G1325C:p.S442T RS1051881 Triglycerides:HDL cholesterol:Diastolic blood pressure (DBP):Systolic blood pressure (SBP)
4 122741807 1 CCNA2 C T exonic synonymous SNV CCNA2:NM_001237:exon4:c.G684A:p.Q228Q RS769243 Barnes Akathisia Rating Scale:Diastolic blood pressure (DBP):Systolic blood pressure (SBP)
4 122742217 2 CCNA2 T C exonic nonsynonymous SNV CCNA2:NM_001237:exon3:c.A487G:p.I163V RS769242 Triglycerides
4 125592065 1 ANKRD50 C A exonic synonymous SNV ANKRD50:NM_001167882:exon3:c.G1830T:p.A610A,ANKRD50:NM_020337:exon4:c.G2367T:p.A789A RS10018651 Gene expression of ANKRD50 in peripheral blood monocytes:Microalbuminuria:Coronary artery disease (CAD):Infant head circumference
4 128814964 1 PLK4 G T exonic nonsynonymous SNV PLK4:NM_001190799:exon12:c.G2394T:p.E798D,PLK4:NM_001190801:exon13:c.G2367T:p.E789D,PLK4:NM_014264:exon13:c.G2490T:p.E830D RS17012739 Barnes Akathisia Rating Scale:2 hour glucose:Triglycerides:Comorbid depressive syndrome and alcohol dependence:Infant head circumference:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
4 129012181 1 LARP1B G A exonic synonymous SNV LARP1B:NM_001278604:exon6:c.G384A:p.R128R,LARP1B:NM_018078:exon6:c.G384A:p.R128R,LARP1B:NM_032239:exon6:c.G384A:p.R128R,LARP1B:NM_178043:exon6:c.G384A:p.R128R RS2306054 Schizophrenia:Differential exon level expression of LARP2 [probe 2743158] in brain cortex:Differential exon level expression of LARP2 [probe 2743099] in peripheral blood mononuclear cells:Differential exon level expression of LARP2 [probe 2743158] in peripheral blood mononuclear cells:2 hour glucose:Triglycerides:Gene expression of C4orf29 [transcript NM_001039717, probe A_23_P167358] in liver:Gene expression of MFSD8 [transcript NM_152778, probe A_24_P303080] in liver:Parkinson's disease (PD):Serum concentration of heme*:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
4 129012638 1 LARP1B A G exonic synonymous SNV LARP1B:NM_001278604:exon7:c.A639G:p.A213A,LARP1B:NM_018078:exon7:c.A639G:p.A213A,LARP1B:NM_032239:exon7:c.A639G:p.A213A,LARP1B:NM_178043:exon7:c.A639G:p.A213A RS1064205 Parkinson's disease (PD):2 hour glucose:Triglycerides:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
4 129043204 1 LARP1B C G exonic nonsynonymous SNV LARP1B:NM_001350531:exon9:c.C662G:p.P221R,LARP1B:NM_018078:exon11:c.C1385G:p.P462R,LARP1B:NM_178043:exon11:c.C1385G:p.P462R
4 129043286 1 LARP1B C T exonic synonymous SNV LARP1B:NM_001350531:exon9:c.C744T:p.Y248Y,LARP1B:NM_018078:exon11:c.C1467T:p.Y489Y,LARP1B:NM_178043:exon11:c.C1467T:p.Y489Y RS3733320 Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
4 129924977 2 SCLT1 C A exonic synonymous SNV SCLT1:NM_144643:exon6:c.G345T:p.L115L RS3113487 Differential exon level expression of SCLT1 [probe 2785322] in peripheral blood mononuclear cells:Differential exon level expression of SCLT1 [probe 2785321] in peripheral blood mononuclear cells:Differential exon level expression of SCLT1 [probe 2785316] in peripheral blood mononuclear cells:Total cholesterol:Partial epilepsy:Neuroblastoma (brain cancer):Microalbuminuria:Gene expression of AC093826.1 in blood:PROP taste detection threshold:Resistance to kuru in aged women despite likely exposure:Gene expression of C4orf33 in normal prepouch ileum:Primary rhegmatogenous retinal detachment
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 139140494 1 SLC7A11 G C exonic synonymous SNV SLC7A11:NM_014331:exon5:c.C672G:p.A224A RS6838248 PROP taste detection threshold:Mitral annular calcium
4 141543997 1 TBC1D9 G A exonic synonymous SNV TBC1D9:NM_015130:exon21:c.C3153T:p.H1051H RS1560440 Neuroblastoma (brain cancer):Urinary albumin-to-creatinine ratio:Sporadic Creutzfeldt-Jakob disease:Hypertension (early onset hypertension)
4 144135718 1 USP38 G A exonic synonymous SNV USP38:NM_001290325:exon9:c.G2589A:p.R863R,USP38:NM_032557:exon9:c.G2589A:p.R863R,USP38:NM_001290326:exon10:c.G1224A:p.R408R RS4285045 HDL cholesterol:Serum creatinine:Cystatin C in serum:Height:Systolic blood pressure (SBP):Adiponectin levels:Salmonella-induced pyroptosis
4 144467104 2 SMARCA5 T C exonic synonymous SNV SMARCA5:NM_003601:exon19:c.T2424C:p.N808N
4 146058924 1 OTUD4 A T exonic synonymous SNV OTUD4:NM_001102653:exon21:c.T2808A:p.A936A
4 152682046 1 GATB G T exonic nonsynonymous SNV GATB:NM_004564:exon1:c.C89A:p.A30D RS11556167 Schizophrenia:Eur students <30 Immediate Story Recall:Serum creatinine:Gene expression of PET112L in blood:Serum ratio of (erythritol)/(palmitoleate (16:1n7)):Refractive error
4 153633359 2
4 155488821 1 FGB C T exonic synonymous SNV FGB:NM_001184741:exon4:c.C390T:p.S130S,FGB:NM_005141:exon4:c.C567T:p.S189S RS6056 Plasma fibrinogen:Plasma fibrinogen (females):Fibrinogen:Serum ratio of (2-linoleoylglycerophosphocholine*)/(3-methoxytyrosine)
4 155490832 1 FGB C T exonic synonymous SNV FGB:NM_001184741:exon7:c.C948T:p.Y316Y,FGB:NM_005141:exon7:c.C1125T:p.Y375Y RS4681 Coronary artery disease (CAD):Plasma fibrinogen:Gene expression of DHRS13 in peripheral blood monocytes
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 159782889 1 FNIP2 G T exonic nonsynonymous SNV FNIP2:NM_001346043:exon11:c.G364T:p.A122S,FNIP2:NM_001323916:exon12:c.G1495T:p.A499S,FNIP2:NM_020840:exon12:c.G1426T:p.A476S
4 159789441 1 FNIP2 C A exonic nonsynonymous SNV FNIP2:NM_001346043:exon12:c.C591A:p.S197R,FNIP2:NM_001323916:exon13:c.C1722A:p.S574R,FNIP2:NM_020840:exon13:c.C1653A:p.S551R
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 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 166141116 1 KLHL2 C T exonic synonymous SNV KLHL2:NM_001161521:exon2:c.C69T:p.L23L,KLHL2:NM_007246:exon2:c.C57T:p.L19L
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 170663235 2 HPF1 C T exonic nonsynonymous SNV HPF1:NM_017867:exon5:c.G521A:p.R174K RS1047642 Gene expression of [probe 1440102 centered at chr4:171120917] in blood
4 175225452 1 CEP44 G A exonic nonsynonymous SNV CEP44:NM_001040157:exon6:c.G439A:p.G147S,CEP44:NM_001145314:exon6:c.G439A:p.G147S RS4695918 Amyotrophic lateral sclerosis (ALS):Gene expression of KIAA1712 in YRI lymphoblastoid cell lines:Differential exon level expression of KIAA1712 [probe 2752254] in brain cortex:Differential exon level expression of KIAA1712 [probe 2752254] in peripheral blood mononuclear cells:Refractive error:Gene expression of CEP44 in normal prepouch ileum:College completion
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 178262683 2 NEIL3 T C exonic synonymous SNV NEIL3:NM_018248:exon6:c.T756C:p.P252P RS17676249 LDL cholesterol:HDL cholesterol change with statins:LDL cholesterol:Total cholesterol
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 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 185599489 2 PRIMPOL G A exonic synonymous SNV PRIMPOL:NM_001345900:exon6:c.G423A:p.Q141Q,PRIMPOL:NM_001345901:exon6:c.G252A:p.Q84Q,PRIMPOL:NM_001300767:exon7:c.G561A:p.Q187Q,PRIMPOL:NM_001345894:exon7:c.G252A:p.Q84Q,PRIMPOL:NM_001345897:exon7:c.G252A:p.Q84Q,PRIMPOL:NM_001345898:exon7:c.G252A:p.Q84Q,PRIMPOL:NM_001300768:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345891:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345892:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345893:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345895:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_001345896:exon8:c.G948A:p.Q316Q,PRIMPOL:NM_152683:exon8:c.G948A:p.Q316Q
4 185615764 2 PRIMPOL C A exonic nonsynonymous SNV PRIMPOL:NM_001345899:exon12:c.C1262A:p.T421K,PRIMPOL:NM_001345900:exon12:c.C989A:p.T330K,PRIMPOL:NM_001345901:exon12:c.C818A:p.T273K,PRIMPOL:NM_001300767:exon13:c.C1127A:p.T376K,PRIMPOL:NM_001345897:exon13:c.C818A:p.T273K,PRIMPOL:NM_001345898:exon13:c.C815A:p.T272K,PRIMPOL:NM_001300768:exon14:c.C1511A:p.T504K,PRIMPOL:NM_001345894:exon14:c.C857A:p.T286K,PRIMPOL:NM_001345895:exon14:c.C1514A:p.T505K,PRIMPOL:NM_001345896:exon14:c.C1511A:p.T504K,PRIMPOL:NM_152683:exon14:c.C1514A:p.T505K,PRIMPOL:NM_001345891:exon15:c.C1553A:p.T518K,PRIMPOL:NM_001345892:exon15:c.C1550A:p.T517K,PRIMPOL:NM_001345893:exon15:c.C1550A:p.T517K RS14969 Systolic blood pressure (SBP):Advanced age-related macular degeneration (geographic atrophy)
4 185615768 2 PRIMPOL T G exonic synonymous SNV PRIMPOL:NM_001345899:exon12:c.T1266G:p.G422G,PRIMPOL:NM_001345900:exon12:c.T993G:p.G331G,PRIMPOL:NM_001345901:exon12:c.T822G:p.G274G,PRIMPOL:NM_001300767:exon13:c.T1131G:p.G377G,PRIMPOL:NM_001345897:exon13:c.T822G:p.G274G,PRIMPOL:NM_001345898:exon13:c.T819G:p.G273G,PRIMPOL:NM_001300768:exon14:c.T1515G:p.G505G,PRIMPOL:NM_001345894:exon14:c.T861G:p.G287G,PRIMPOL:NM_001345895:exon14:c.T1518G:p.G506G,PRIMPOL:NM_001345896:exon14:c.T1515G:p.G505G,PRIMPOL:NM_152683:exon14:c.T1518G:p.G506G,PRIMPOL:NM_001345891:exon15:c.T1557G:p.G519G,PRIMPOL:NM_001345892:exon15:c.T1554G:p.G518G,PRIMPOL:NM_001345893:exon15:c.T1554G:p.G518G RS3184982 Height
4 185637699 2 CENPU A G exonic nonsynonymous SNV CENPU:NM_024629:exon6:c.T470C:p.I157T RS6552804 Eye color:High-grade glioma:Height:Gene expression of CASP3 in blood:Gene expression of MLF1IP [probeset 229305_at] in sputum
4 185650154 2 CENPU G A exonic synonymous SNV CENPU:NM_024629:exon3:c.C132T:p.F44F RS6818447 Systolic blood pressure (SBP)
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 186097045 1 CFAP97 C T exonic synonymous SNV CFAP97:NM_001292033:exon3:c.G1215A:p.P405P,CFAP97:NM_020827:exon3:c.G1215A:p.P405P RS6855305 Gene expression of KIAA1430 [probe 230569_at] in lymphoblastoid cell lines:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Salmonella-induced pyroptosis
4 186111639 1 CFAP97 T C exonic nonsynonymous SNV CFAP97:NM_001292033:exon2:c.A712G:p.T238A,CFAP97:NM_020827:exon2:c.A712G:p.T238A RS386518075 Years of education:Birth weight:Breast cancer
4 186112111 1 CFAP97 G A exonic synonymous SNV CFAP97:NM_001292033:exon2:c.C240T:p.P80P,CFAP97:NM_020827:exon2:c.C240T:p.P80P RS3108237 PROP taste detection threshold:Salmonella-induced pyroptosis
4 187113041 1 CYP4V2 C G exonic nonsynonymous SNV CYP4V2:NM_207352:exon1:c.C64G:p.L22V
4 187516880 1 FAT1 A G exonic synonymous SNV FAT1:NM_005245:exon26:c.T13101C:p.S4367S RS1298865 Total cholesterol:PROP taste detection threshold:Advanced age-related macular degeneration (geographic atrophy):Mitral annular calcium
4 187519206 2 FAT1 C G exonic nonsynonymous SNV FAT1:NM_005245:exon23:c.G12177C:p.K4059N
4 187525020 1 FAT1 A C exonic nonsynonymous SNV FAT1:NM_005245:exon19:c.T10660G:p.S3554A RS2637777 HIV-1 control (viral load at set point):PROP taste detection threshold:Mitral annular calcium
4 187534363 1 FAT1 G A exonic synonymous SNV FAT1:NM_005245:exon13:c.C9363T:p.N3121N RS2249916 Body mass index (BMI):Advanced age-related macular degeneration (geographic atrophy)
4 187534375 1 FAT1 A G exonic synonymous SNV FAT1:NM_005245:exon13:c.T9351C:p.D3117D RS2249917 Irritible bowel syndrome:Diabetic retinopathy in Type 2 diabetes mellitus:Parkinson's disease
4 187538330 1 FAT1 G A exonic synonymous SNV FAT1:NM_005245:exon11:c.C8904T:p.A2968A RS1280099 Differential exon level expression of FAT [probe 2797432] in brain cortex:Asthma:Severe diabetic retinopathy:Parkinson's disease:Diabetic retinopathy in Type 2 diabetes mellitus
4 187538942 1 FAT1 T G exonic nonsynonymous SNV FAT1:NM_005245:exon10:c.A8798C:p.Q2933P
4 187539217 1 FAT1 G A exonic synonymous SNV FAT1:NM_005245:exon10:c.C8523T:p.N2841N RS3733405 LDL cholesterol:Triglycerides change with statins:Total cholesterol change with statins:Total cholesterol:Triglycerides
4 187540635 1 FAT1 T G exonic nonsynonymous SNV FAT1:NM_005245:exon10:c.A7105C:p.T2369P
4 187540654 1 FAT1 T A exonic synonymous SNV FAT1:NM_005245:exon10:c.A7086T:p.A2362A RS3796647 Triglycerides change with statins:Total cholesterol change with statins:Total cholesterol:Triglycerides
4 187540918 1 FAT1 G C exonic nonsynonymous SNV FAT1:NM_005245:exon10:c.C6822G:p.D2274E RS3796648 Triglycerides
4 187541761 1 FAT1 G A exonic synonymous SNV FAT1:NM_005245:exon10:c.C5979T:p.T1993T RS3733407 Triglycerides change with statins:Total cholesterol change with statins:Total cholesterol:Triglycerides
4 187542316 1 FAT1 T C exonic synonymous SNV FAT1:NM_005245:exon10:c.A5424G:p.V1808V RS2099854 Triglycerides change with statins:Total cholesterol change with statins:Total cholesterol:Triglycerides
4 187542736 1 FAT1 T C exonic synonymous SNV FAT1:NM_005245:exon10:c.A5004G:p.T1668T
4 187549428 1 FAT1 C T exonic nonsynonymous SNV FAT1:NM_005245:exon9:c.G4690A:p.A1564T RS2304867 Total cholesterol change with statins:Triglycerides change with statins:Total cholesterol:LDL cholesterol change with statins:Triglycerides:Serum concentration of lysine
4 187557893 1 FAT1 T C exonic nonsynonymous SNV FAT1:NM_005245:exon5:c.A3818G:p.H1273R RS328418 Celiac disease:Irritible bowel syndrome:Triglycerides change with statins:Gene expression of TEAD3 in peripheral blood monocytes:Serum concentration of pro-hydroxy-pro:Advanced age-related macular degeneration (geographic atrophy)
4 187627792 1 FAT1 T C exonic nonsynonymous SNV FAT1:NM_005245:exon2:c.A3190G:p.R1064G RS11939575 Asthma:Serum ratio of (1-eicosadienoylglycerophosphocholine*)/(ascorbate (Vitamin C)):Bipolar disorder:Tetrology of fallot
4 187628398 1 FAT1 C G exonic nonsynonymous SNV FAT1:NM_005245:exon2:c.G2584C:p.V862L RS1877731 Gene expression of HHIPL1 in peripheral blood monocytes:Bipolar disorder
4 187629140 1 FAT1 G C exonic nonsynonymous SNV FAT1:NM_005245:exon2:c.C1842G:p.F614L
4 190876204 1 FRG1 G A exonic synonymous SNV FRG1:NM_004477:exon5:c.G330A:p.K110K
4 190876242 1 FRG1 G A exonic nonsynonymous SNV FRG1:NM_004477:exon5:c.G368A:p.G123E
4 190883001 1 FRG1 C G exonic nonsynonymous SNV FRG1:NM_004477:exon8:c.C654G:p.D218E
5 311478 1 PDCD6 T C exonic synonymous SNV PDCD6:NM_001267557:exon3:c.T234C:p.I78I,PDCD6:NM_001267556:exon5:c.T432C:p.I144I,PDCD6:NM_013232:exon5:c.T438C:p.I146I,PDCD6:NM_001267558:exon6:c.T228C:p.I76I RS2244029 HDL cholesterol:Total cholesterol
5 1057615 2 SLC12A7 A G exonic synonymous SNV SLC12A7:NM_006598:exon22:c.T2997C:p.S999S RS2241606 Fasting blood glucose:HOMA-B
5 1063998 1 SLC12A7 G A exonic synonymous SNV SLC12A7:NM_006598:exon20:c.C2700T:p.Y900Y RS7722287 Serum creatinine:Birth weight
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 1318491 1 CLPTM1L G A exonic nonsynonymous SNV CLPTM1L:NM_030782:exon17:c.C1610T:p.T537M
5 5460569 2 ICE1 C T exonic synonymous SNV ICE1:NM_015325:exon13:c.C1122T:p.Y374Y RS2578565 Total cholesterol:Height:Parkinson's disease
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 7870973 1 MTRR A G exonic nonsynonymous SNV MTRR:NM_002454:exon2:c.A66G:p.I22M,MTRR:NM_024010:exon2:c.A147G:p.I49M RS1801394 Gene expression of MTRR in Frontal cortex:Gene expression of MTRR in Cerebellum:Gene expression of MTRR in Temporal cortex:Total cholesterol:LDL cholesterol:Urinary albumin-to-creatinine ratio:Gene expression of MTRR (probeID ILMN_1718932) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MTRR (probeID ILMN_1718932) in temporal cortex in Alzheimer's disease cases and controls:Refractive error:Gene expression of MTRR in normal prepouch ileum
5 7878179 1 MTRR C T exonic nonsynonymous SNV MTRR:NM_002454:exon5:c.C524T:p.S175L,MTRR:NM_024010:exon5:c.C605T:p.S202L RS1532268 Schizophrenia:Total cholesterol:Gene expression of MTRR in CD4+ lymphocytes:Gene expression of MTRR in blood:Comorbid depressive syndrome and alcohol dependence:PROP taste detection threshold: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 Alzheimer's disease cases: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 non-Alzheimer's disease samples:Gene expression of MTRR (probeID ILMN_1718932) in temporal cortex in Progressive Supranuclear Palsy cases:Mitral annular calcium:Gene expression of MTRR (probeID ILMN_1718932) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of MTRR (probeID ILMN_1718932) in cerebellum in Alzheimer's disease cases and controls
5 7878192 1 MTRR T C exonic synonymous SNV MTRR:NM_002454:exon5:c.T537C:p.L179L,MTRR:NM_024010:exon5:c.T618C:p.L206L
5 7885959 1 MTRR A G exonic nonsynonymous SNV MTRR:NM_002454:exon7:c.A1049G:p.K350R,MTRR:NM_024010:exon7:c.A1130G:p.K377R RS162036 Gene expression of MTRR in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of MTRR [probe 203200_s_at] in lymphoblastoid cell lines:Gene expression of KIAA1543 [probe 1568617_a_at] in lymphoblastoid cell lines:Gene expression of MTRR in liver:Circulating Vitamin-B8 concentration:Alzheimer's disease:Total cholesterol:Gene expression of AC010346.2 in blood: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:Years of education:Gene expression of MTRR (probeID ILMN_1718932) in cerebellum in Alzheimer's disease cases:College completion: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 Progressive Supranuclear Palsy cases:Gene expression of MTRR (probeID ILMN_1718932) in temporal cortex in Alzheimer's disease cases and controls
5 7897191 1 MTRR C T exonic nonsynonymous SNV MTRR:NM_002454:exon14:c.C1783T:p.H595Y,MTRR:NM_024010:exon14:c.C1864T:p.H622Y RS10380 Gene expression of MTRR [probe 203200_s_at] in lymphoblastoid cell lines:Alzheimer's disease:Total cholesterol:Gene expression of AC010346.2 in blood:Gene expression of MTRR (probeID ILMN_1718932) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of MTRR (probeID ILMN_1718932) in cerebellum in Alzheimer's disease cases:Years of education: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 non-Alzheimer's disease samples:Gene expression of MTRR (probeID ILMN_1718932) in temporal cortex in Alzheimer's disease cases:College completion: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
5 7897283 1 MTRR G A exonic synonymous SNV MTRR:NM_002454:exon14:c.G1875A:p.V625V,MTRR:NM_024010:exon14:c.G1956A:p.V652V RS12347 Gene expression of MTRR [probe 203200_s_at] in lymphoblastoid cell lines:Total cholesterol:Years of education:Gene expression of MTRR (probeID ILMN_1718932) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MTRR (probeID ILMN_1718932) in temporal cortex in Alzheimer's disease cases and controls:College completion
5 7897319 1 MTRR G A exonic synonymous SNV MTRR:NM_002454:exon14:c.G1911A:p.A637A,MTRR:NM_024010:exon14:c.G1992A:p.A664A RS1802059 Total cholesterol:Comorbid depressive syndrome and alcohol dependence:PROP taste detection threshold:Gene expression of MTRR (probeID ILMN_1718932) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MTRR (probeID ILMN_1718932) in temporal cortex in Alzheimer's disease cases and controls:Mitral annular calcium
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 10680997 1 DAP G A exonic nonsynonymous SNV DAP:NM_001291963:exon3:c.C437T:p.S146F RS5745297 Irritible bowel syndrome:Tardive dyskinesia:Gene expression of DAP in peripheral blood monocytes:Gene expression of DAP in blood
5 14420027 2 TRIO A C exonic synonymous SNV TRIO:NM_007118:exon34:c.A5100C:p.T1700T RS30612 Fasting blood glucose:LDL cholesterol:Total cholesterol:Total cholesterol change with statins:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Aortic valve calcium
5 14741984 1 ANKH T C exonic synonymous SNV ANKH:NM_054027:exon8:c.A963G:p.A321A
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 31423007 1 DROSHA T C exonic synonymous SNV DROSHA:NM_001100412:exon28:c.A3195G:p.P1065P,DROSHA:NM_013235:exon28:c.A3306G:p.P1102P RS2287584 HDL cholesterol:Cystatin C in serum:Adiponectin levels
5 31538692 1 C5orf22 A C exonic nonsynonymous SNV C5orf22:NM_018356:exon4:c.A703C:p.T235P RS17410000 Height:Advanced age-related macular degeneration
5 32403346 2 ZFR C T exonic nonsynonymous SNV ZFR:NM_016107:exon8:c.G1381A:p.V461I RS4867440 Spine bone mineral density (BMD):3-Aminoisobutyrate concentration:Hypertension (early onset hypertension):Salmonella-induced pyroptosis
5 33989518 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 34004707 1 AMACR C T exonic nonsynonymous SNV AMACR:NM_001167595:exon3:c.G524A:p.G175D,AMACR:NM_014324:exon3:c.G524A:p.G175D RS10941112 Gene expression of AMACR [probe 209424_s_at] in lymphoblastoid cell lines:Gene expression of AMACR [probe 209426_s_at] in lymphoblastoid cell lines:Spine bone mineral density (BMD):Hip bone mineral density (BMD):Schizophrenia:Differential exon level expression of AMACR [probe 2852748] in brain cortex:Differential exon level expression of AMACR [probe 2852747] in brain cortex:Differential exon level expression of AMACR [probe 2852757] in brain cortex:Gene expression of AMACR [probe 2852742] in brain cortex:Gene expression of AMACR in T cells:Gene expression of AMACR in Fibroblasts:Gene expression of AMACR in CD4+ lymphocytes:Height:Gene expression of C1QTNF3 in blood:Gene expression of AMACR (probeID ILMN_1759670) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of AMACR (probeID ILMN_2367172) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of AMACR (probeID ILMN_1759670) in temporal cortex in Progressive Supranuclear Palsy cases: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:Gene expression of AMACR (probeID ILMN_1759670) in cerebellum in non-Alzheimer's disease samples:Paternal transmission distortion:Gene expression of AMACR (probeID ILMN_2367172) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of AMACR (probeID ILMN_2367172) in cerebellum in non-Alzheimer's disease samples:Gene expression of AMACR (probeID ILMN_2367172) in cerebellum 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_2367172) in cerebellum in Alzheimer's disease cases:Gene expression of AMACR (probeID ILMN_1759670) in cerebellum in Alzheimer's disease cases and controls:Gene expression of AMACR (probeID ILMN_2367172) in temporal cortex in Alzheimer's disease cases:Gene expression of AMACR (probeID ILMN_1759670) in cerebellum in Alzheimer's disease cases:Parkinson's disease
5 34008100 1 AMACR C T exonic nonsynonymous SNV AMACR:NM_001167595:exon1:c.G25A:p.V9M,AMACR:NM_014324:exon1:c.G25A:p.V9M,AMACR:NM_203382:exon1:c.G25A:p.V9M RS3195676 Gene expression of C1QTNF3 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Height: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 cerebellum in Alzheimer's disease cases and controls:Gene expression of AMACR (probeID ILMN_2367172) in cerebellum in Alzheimer's disease cases and controls:Parkinson's disease:Gene expression of AMACR (probeID ILMN_1759670) in temporal cortex in Alzheimer's disease cases and controls
5 34823339 1 RAI14 A C exonic synonymous SNV RAI14:NM_001145522:exon14:c.A1305C:p.A435A,RAI14:NM_001145523:exon14:c.A1368C:p.A456A,RAI14:NM_001145520:exon15:c.A1392C:p.A464A,RAI14:NM_015577:exon15:c.A1392C:p.A464A,RAI14:NM_001145521:exon16:c.A1392C:p.A464A,RAI14:NM_001145525:exon17:c.A1401C:p.A467A
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 36143392 2 LMBRD2 C T exonic synonymous SNV LMBRD2:NM_001007527:exon2:c.G60A:p.L20L RS267766 HOMA-IR:Fasting insulin:HOMA-B:Body mass index (BMI):3-Aminoisobutyrate concentration:Comorbid depressive syndrome and alcohol dependence:Primary rhegmatogenous retinal detachment:Paternal transmission distortion:Transmission distortion
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 38933303 1 OSMR A G exonic synonymous SNV OSMR:NM_001323505:exon18:c.A2697G:p.K899K,OSMR:NM_001323506:exon18:c.A2700G:p.K900K,OSMR:NM_003999:exon18:c.A2697G:p.K899K
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 43509348 2 C5orf34 T A exonic nonsynonymous SNV C5orf34:NM_198566:exon2:c.A94T:p.T32S
5 52096889 1 PELO C A exonic nonsynonymous SNV PELO:NM_015946:exon2:c.C661A:p.L221M RS1499280 Schizophrenia:Gene expression of PELO in liver:Mitral annular calcium:Aortic valve calcium
5 52157374 2 ITGA1 T C exonic synonymous SNV ITGA1:NM_181501:exon3:c.T276C:p.C92C RS2447867 Fasting blood glucose:Serum creatinine:Parkinson's disease:Primary rhegmatogenous retinal detachment
5 52347369 2 ITGA2 C T exonic synonymous SNV ITGA2:NM_002203:exon7:c.C759T:p.F253F RS1126643 Platelet aggregation in response to collagen
5 52351413 2 ITGA2 G A exonic synonymous SNV ITGA2:NM_002203:exon8:c.G825A:p.T275T
5 52379277 2 ITGA2 C T exonic synonymous SNV ITGA2:NM_002203:exon27:c.C3252T:p.F1084F RS2303122 Total cholesterol:Information processing speed (Speed factor):Resistance to kuru in aged women despite likely exposure:Maternal transmission distortion:Transmission distortion:Birth weight
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 53815240 1 SNX18 G C exonic synonymous SNV SNX18:NM_001102575:exon1:c.G1458C:p.S486S,SNX18:NM_001145427:exon1:c.G1458C:p.S486S,SNX18:NM_052870:exon1:c.G1458C:p.S486S
5 54960609 2 SLC38A9 A G exonic synonymous SNV SLC38A9:NM_001258286:exon6:c.T420C:p.L140L,SLC38A9:NM_001258287:exon7:c.T528C:p.L176L,SLC38A9:NM_001282429:exon7:c.T237C:p.L79L,SLC38A9:NM_001349385:exon8:c.T609C:p.L203L,SLC38A9:NM_173514:exon8:c.T609C:p.L203L,SLC38A9:NM_001349384:exon9:c.T609C:p.L203L,SLC38A9:NM_001349382:exon10:c.T609C:p.L203L,SLC38A9:NM_001349383:exon10:c.T609C:p.L203L RS4865614 LDL cholesterol change with statins:Total cholesterol change with statins:Height:Waist hip ratio:Aortic valve calcium
5 56178217 1 MAP3K1 A C exonic synonymous SNV MAP3K1:NM_005921:exon14:c.A3190C:p.R1064R RS832583 Methylation levels at chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Frontal cortex:Methylation levels at chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Caudal pons:Methylation levels at chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Temporal cortex:Methylation levels at chr5:56240632-56240682 [hg18 coord, probe cg20203395] in Cerebellum:Height:Bipolar disorder:Gene expression of C5orf35 (probeID ILMN_1757636) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C5orf35 in normal prepouch ileum:Gene expression of C5orf35 (probeID ILMN_1757636) in temporal cortex in Alzheimer's disease cases and controls
5 56209735 1 SETD9 A G exonic nonsynonymous SNV SETD9:NM_001171990:exon4:c.A625G:p.K209E,SETD9:NM_001323018:exon4:c.A547G:p.K183E,SETD9:NM_001323019:exon4:c.A625G:p.K209E,SETD9:NM_001323020:exon4:c.A547G:p.K183E,SETD9:NM_001323022:exon4:c.A169G:p.K57E,SETD9:NM_153706:exon4:c.A625G:p.K209E RS40497 Irritible bowel syndrome:Schizophrenia:HDL cholesterol:Gene expression of C5orf35 in CD4+ lymphocytes:Gene expression of C5orf35 in blood:Gene expression of C5orf35 [probeset 238465_at] in sputum:College completion:Gene expression of C5orf35 (probeID ILMN_1757636) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C5orf35 (probeID ILMN_1757636) in temporal cortex in Alzheimer's disease cases and controls
5 56526783 2 GPBP1 G A exonic synonymous SNV GPBP1:NM_001127236:exon3:c.G195A:p.G65G,GPBP1:NM_001127235:exon4:c.G195A:p.G65G,GPBP1:NM_001331037:exon4:c.G174A:p.G58G,GPBP1:NM_022913:exon4:c.G174A:p.G58G
5 60200665 1 ERCC8 A G exonic synonymous SNV ERCC8:NM_000082:exon5:c.T435C:p.Y145Y,ERCC8:NM_001007234:exon5:c.T435C:p.Y145Y,ERCC8:NM_001007233:exon6:c.T261C:p.Y87Y
5 60241142 1 NDUFAF2 G A exonic synonymous SNV NDUFAF2:NM_174889:exon1:c.G60A:p.K20K RS158921 Serum creatinine:LDL cholesterol:Years of education:Parkinson's disease:College completion:Obesity with early age of onset (age >2)
5 61772535 2 IPO11 G T exonic synonymous SNV IPO11:NM_001134779:exon9:c.G903T:p.V301V,IPO11:NM_016338:exon9:c.G783T:p.V261V RS26635 Systolic blood pressure (SBP):College completion:Years of education
5 64267595 1 CWC27 T C exonic synonymous SNV CWC27:NM_001297644:exon12:c.T1108C:p.L370L,CWC27:NM_005869:exon12:c.T1108C:p.L370L RS2278351 Hoarding traits
5 64881936 2 PPWD1 A G exonic synonymous SNV PPWD1:NM_001278929:exon9:c.A1257G:p.P419P,PPWD1:NM_001278927:exon10:c.A1305G:p.P435P,PPWD1:NM_015342:exon10:c.A1725G:p.P575P,PPWD1:NM_001278926:exon11:c.A1635G:p.P545P RS27141 Serum creatinine:Gene expression of PPWD1 in normal prepouch ileum
5 64956563 1 TRAPPC13 A G exonic nonsynonymous SNV TRAPPC13:NM_001093756:exon9:c.A718G:p.M240V,TRAPPC13:NM_001243737:exon9:c.A718G:p.M240V,TRAPPC13:NM_001093755:exon10:c.A736G:p.M246V,TRAPPC13:NM_024941:exon10:c.A736G:p.M246V
5 65350374 1 ERBIN A G exonic synonymous SNV ERBIN:NM_001006600:exon21:c.A3228G:p.R1076R,ERBIN:NM_001253697:exon21:c.A3228G:p.R1076R,ERBIN:NM_001253698:exon21:c.A3228G:p.R1076R,ERBIN:NM_001253699:exon21:c.A3228G:p.R1076R,ERBIN:NM_001253701:exon21:c.A3216G:p.R1072R,ERBIN:NM_018695:exon21:c.A3228G:p.R1076R RS36303 Waist hip ratio:PROP taste detection threshold
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 68417643 1 SLC30A5 C T exonic synonymous SNV SLC30A5:NM_022902:exon13:c.C1692T:p.H564H RS164578 Differential exon level expression of SLC30A5 [probe 2813395] in peripheral blood mononuclear cells:Differential exon level expression of SLC30A5 [probe 2813395] in brain cortex:Gene expression of SLC30A5 in normal prepouch ileum
5 68419054 1 SLC30A5 A T exonic synonymous SNV SLC30A5:NM_022902:exon14:c.A1800T:p.T600T RS164572 Triglycerides:HDL cholesterol:Age at death with kuru exposure:Gene expression of SLC30A5 in normal prepouch ileum
5 68471247 1 CCNB1 G A exonic synonymous SNV CCNB1:NM_031966:exon7:c.G966A:p.L322L RS1128761 Gene expression of TBRG1 [probe GI_14249499-S] in brain cortex with Alzheimer's interaction:Gene expression of MRPS36 in peripheral blood monocytes:Advanced age-related macular degeneration (geographic atrophy):Acute lung injury following major trauma
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 68715310 1 MARVELD2 C T exonic nonsynonymous SNV MARVELD2:NM_001038603:exon2:c.C98T:p.T33I,MARVELD2:NM_001244734:exon2:c.C98T:p.T33I RS1185246 Major depressive disorder (broad definition) (females):Major depressive disorder (broad definition):Gene expression of CCDC125 in blood:Aortic valve calcium
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 70840233 1 BDP1 C T exonic synonymous SNV BDP1:NM_018429:exon31:c.C6462T:p.L2154L RS182190 Microalbuminuria:Urinary albumin-to-creatinine ratio
5 70858194 1 BDP1 C T exonic synonymous SNV BDP1:NM_018429:exon38:c.C7590T:p.R2530R
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 72184098 1 TNPO1 C T exonic synonymous SNV TNPO1:NM_002270:exon13:c.C1497T:p.D499D,TNPO1:NM_153188:exon13:c.C1473T:p.D491D RS17606 LDL cholesterol:HOMA-B:HOMA-IR:Total cholesterol:Height:PROP taste detection threshold
5 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 72874907 1 UTP15 A C exonic synonymous SNV UTP15:NM_001284431:exon10:c.A642C:p.G214G,UTP15:NM_001284430:exon11:c.A1155C:p.G385G,UTP15:NM_032175:exon11:c.A1212C:p.G404G RS343122 Rheumatoid arthritis, combined control dataset:LDL cholesterol:Gene expression of UTP15 in peripheral blood monocytes:Gene expression of ANKRA2 in peripheral blood monocytes
5 73144845 2 ARHGEF28 A G exonic synonymous SNV ARHGEF28:NM_001244364:exon5:c.A741G:p.S247S,ARHGEF28:NM_001080479:exon13:c.A1680G:p.S560S,ARHGEF28:NM_001177693:exon13:c.A1680G:p.S560S
5 73163965 1 ARHGEF28 C A exonic nonsynonymous SNV ARHGEF28:NM_001244364:exon12:c.C1399A:p.H467N,ARHGEF28:NM_001080479:exon20:c.C2338A:p.H780N,ARHGEF28:NM_001177693:exon20:c.C2338A:p.H780N RS2973558 Asthma:Waist hip ratio
5 73179672 1 ARHGEF28 C T exonic synonymous SNV ARHGEF28:NM_001244364:exon16:c.C2079T:p.Y693Y,ARHGEF28:NM_001080479:exon24:c.C3018T:p.Y1006Y,ARHGEF28:NM_001177693:exon24:c.C3018T:p.Y1006Y RS3749645 Spine bone mineral density (BMD):Arthritis including non-Rheumatoid:HDL cholesterol:Years of education:College completion
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 73930751 2 ENC1 C T exonic synonymous SNV ENC1:NM_001256576:exon2:c.G1341A:p.K447K,ENC1:NM_003633:exon2:c.G1560A:p.K520K,ENC1:NM_001256574:exon3:c.G1560A:p.K520K,ENC1:NM_001256575:exon3:c.G1560A:p.K520K
5 73931246 2 ENC1 T C exonic synonymous SNV ENC1:NM_001256576:exon2:c.A846G:p.S282S,ENC1:NM_003633:exon2:c.A1065G:p.S355S,ENC1:NM_001256574:exon3:c.A1065G:p.S355S,ENC1:NM_001256575:exon3:c.A1065G:p.S355S
5 73981270 2 HEXB T C exonic nonsynonymous SNV HEXB:NM_000521:exon1:c.T185C:p.L62S
5 75923285 2 IQGAP2 C T exonic synonymous SNV IQGAP2:NM_001285461:exon3:c.C231T:p.A77A,IQGAP2:NM_001285462:exon3:c.C231T:p.A77A,IQGAP2:NM_001285460:exon13:c.C1422T:p.A474A,IQGAP2:NM_006633:exon14:c.C1572T:p.A524A RS2431351 Cystatin C in serum:LDL cholesterol
5 75923294 2 IQGAP2 T G exonic nonsynonymous SNV IQGAP2:NM_001285461:exon3:c.T240G:p.D80E,IQGAP2:NM_001285462:exon3:c.T240G:p.D80E,IQGAP2:NM_001285460:exon13:c.T1431G:p.D477E,IQGAP2:NM_006633:exon14:c.T1581G:p.D527E RS2431352 Fasting insulin:Total cholesterol:Triglycerides change with statins:Waist hip ratio
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 75932965 2 IQGAP2 G C exonic nonsynonymous SNV IQGAP2:NM_001285461:exon5:c.G546C:p.L182F,IQGAP2:NM_001285462:exon5:c.G546C:p.L182F,IQGAP2:NM_001285460:exon15:c.G1737C:p.L579F,IQGAP2:NM_006633:exon16:c.G1887C:p.L629F RS2455230 Cystatin C in serum:LDL cholesterol:Aortic valve calcium
5 75960865 2 IQGAP2 T C exonic synonymous SNV IQGAP2:NM_001285461:exon10:c.T1032C:p.H344H,IQGAP2:NM_001285462:exon10:c.T1032C:p.H344H,IQGAP2:NM_001285460:exon21:c.T2394C:p.H798H,IQGAP2:NM_006633:exon22:c.T2544C:p.H848H RS253093 Microalbuminuria
5 76128521 2 F2RL1 G A exonic nonsynonymous SNV F2RL1:NM_005242:exon2:c.G89A:p.S30N
5 76129053 2 F2RL1 T C exonic synonymous SNV F2RL1:NM_005242:exon2:c.T621C:p.I207I RS631465 LDL cholesterol change with statins:Total cholesterol change with statins:Gene expression of PEAR1 in peripheral blood monocytes:Gene expression of SERPINE2 in peripheral blood monocytes:Triglycerides
5 76359024 1 AGGF1 C A exonic nonsynonymous SNV AGGF1:NM_018046:exon14:c.C2092A:p.P698T
5 77425028 2 AP3B1 A T exonic nonsynonymous SNV AP3B1:NM_001271769:exon16:c.T1607A:p.V536E,AP3B1:NM_003664:exon16:c.T1754A:p.V585E RS6453373 HDL cholesterol:HDL cholesterol change with statins
5 77684726 1 SCAMP1 G A exonic unknown UNKNOWN RS3922654 Fasting insulin:HOMA-B:HOMA-IR:Chronic kidney disease:Triglycerides:Body mass index (BMI):Microalbuminuria:Urinary albumin-to-creatinine ratio:Bipolar disorder:College completion:Gene expression change of SCAMP1 (ENSG00000085365) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of SCAMP1 (ENSG00000085365) in dendritic cells treated with Mycobacterium tuberculosis
5 77784738 1 LHFPL2 A G exonic synonymous SNV LHFPL2:NM_005779:exon5:c.T669C:p.N223N RS2241566 Fasting insulin:HOMA-B:HOMA-IR:Triglycerides:HDL cholesterol:Bipolar disorder
5 78135201 1 ARSB C T exonic synonymous SNV ARSB:NM_000046:exon6:c.G1191A:p.P397P,ARSB:NM_198709:exon7:c.G1191A:p.P397P RS25413 Hip bone mineral density (BMD):Spine bone mineral density (BMD):Differential exon level expression of ARSB [probe 2863996] in peripheral blood mononuclear cells:Alzheimer's disease (Left hippocampal grey matter density):Gene expression of ARSB in peripheral blood monocytes:Partial epilepsy:Late onset Alzheimer's disease:Gene expression of ARSB in blood:Paternal transmission distortion
5 78181423 1 ARSB C T exonic nonsynonymous SNV ARSB:NM_000046:exon5:c.G1126A:p.V376M,ARSB:NM_198709:exon6:c.G1126A:p.V376M RS1071598 Waist hip ratio:PROP taste detection threshold:Refractive error
5 78324352 2 DMGDH A G exonic nonsynonymous SNV DMGDH:NM_013391:exon12:c.T1936C:p.S646P RS1805074 Methylation levels at chr5:78317805-78317855 [hg18 coord, probe cg24893837] in Cerebellum:Partial epilepsy:Height:College completion:Diabetic retinopathy in Type 2 diabetes mellitus
5 78326750 2 DMGDH G C exonic nonsynonymous SNV DMGDH:NM_013391:exon10:c.C1589G:p.A530G RS1805073 Methylation levels at chr5:78317805-78317855 [hg18 coord, probe cg24893837] in Cerebellum:Total cholesterol:LDL cholesterol:Height:Diabetic retinopathy in Type 2 diabetes mellitus:Birth weight:College completion
5 78328560 1 DMGDH G A exonic synonymous SNV DMGDH:NM_013391:exon9:c.C1467T:p.G489G RS1805072 Methylation levels at chr5:78317805-78317855 [hg18 coord, probe cg24893837] in Frontal cortex:Methylation levels at chr5:78317805-78317855 [hg18 coord, probe cg24893837] in Cerebellum:Diabetic retinopathy in Type 2 diabetes mellitus:Salmonella-induced pyroptosis:Obesity with early age of onset (age >2):Parkinson's disease
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 78752802 1 HOMER1 T C exonic synonymous SNV HOMER1:NM_001277077:exon2:c.A45G:p.Q15Q,HOMER1:NM_001277078:exon2:c.A45G:p.Q15Q,HOMER1:NM_004272:exon2:c.A45G:p.Q15Q
5 79733079 2 ZFYVE16 T C exonic nonsynonymous SNV ZFYVE16:NM_001284237:exon3:c.T575C:p.I192T,ZFYVE16:NM_014733:exon3:c.T575C:p.I192T,ZFYVE16:NM_001105251:exon4:c.T575C:p.I192T,ZFYVE16:NM_001284236:exon4:c.T575C:p.I192T,ZFYVE16:NM_001349434:exon4:c.T575C:p.I192T RS2544600 Stabilized warfarin dose:Fasting insulin:HOMA-IR:HDL cholesterol change with statins:Lp-PLA2 activity:Sporadic Creutzfeldt-Jakob disease:Parkinson's disease:Tetrology of fallot:Refractive error
5 79734297 2 ZFYVE16 T C exonic nonsynonymous SNV ZFYVE16:NM_001284237:exon3:c.T1793C:p.I598T,ZFYVE16:NM_014733:exon3:c.T1793C:p.I598T,ZFYVE16:NM_001105251:exon4:c.T1793C:p.I598T,ZFYVE16:NM_001284236:exon4:c.T1793C:p.I598T,ZFYVE16:NM_001349434:exon4:c.T1793C:p.I598T RS259028 Premature ovarian failure:Total cholesterol:HDL cholesterol change with statins:Gene expression of ZFYVE16 [transcript NM_001105251, probe A_24_P286054] in liver:Years of education:Parkinson's disease
5 79734409 2 ZFYVE16 G A exonic synonymous SNV ZFYVE16:NM_001284237:exon3:c.G1905A:p.S635S,ZFYVE16:NM_014733:exon3:c.G1905A:p.S635S,ZFYVE16:NM_001105251:exon4:c.G1905A:p.S635S,ZFYVE16:NM_001284236:exon4:c.G1905A:p.S635S,ZFYVE16:NM_001349434:exon4:c.G1905A:p.S635S RS259029 HDL cholesterol change with statins:Total cholesterol:PROP taste detection threshold:Parkinson's disease
5 79745469 2 ZFYVE16 A G exonic nonsynonymous SNV ZFYVE16:NM_014733:exon8:c.A3163G:p.S1055G,ZFYVE16:NM_001105251:exon9:c.A3163G:p.S1055G,ZFYVE16:NM_001284236:exon9:c.A3163G:p.S1055G,ZFYVE16:NM_001349434:exon9:c.A3163G:p.S1055G RS249038 Premature ovarian failure:Total cholesterol:HDL cholesterol change with statins:Years of education:Parkinson's disease
5 80149981 1 MSH3 A G exonic nonsynonymous SNV MSH3:NM_002439:exon21:c.A2846G:p.Q949R RS184967 Arthritis including non-Rheumatoid:Schizophrenia:HDL cholesterol:Total cholesterol:Serum creatinine
5 80604430 1 ZCCHC9 C T exonic synonymous SNV ZCCHC9:NM_001131035:exon3:c.C435T:p.A145A,ZCCHC9:NM_001131036:exon3:c.C435T:p.A145A,ZCCHC9:NM_032280:exon3:c.C435T:p.A145A RS1055383 HDL cholesterol:Triglycerides:2 hour glucose:Waist hip ratio:Diabetic retinopathy in Type 2 diabetes mellitus
5 82648977 1 XRCC4 T G exonic synonymous SNV XRCC4:NM_001318012:exon8:c.T927G:p.S309S,XRCC4:NM_003401:exon8:c.T921G:p.S307S,XRCC4:NM_022406:exon8:c.T927G:p.S309S,XRCC4:NM_022550:exon8:c.T921G:p.S307S RS1056503 HDL cholesterol:Maternal transmission distortion
5 86564564 1 RASA1 C T exonic nonsynonymous SNV RASA1:NM_002890:exon1:c.C296T:p.A99V
5 87498849 2 TMEM161B G A exonic synonymous SNV TMEM161B:NM_001349405:exon7:c.C298T:p.L100L,TMEM161B:NM_001349402:exon8:c.C298T:p.L100L,TMEM161B:NM_001349403:exon8:c.C298T:p.L100L,TMEM161B:NM_001289007:exon9:c.C844T:p.L282L,TMEM161B:NM_001349400:exon9:c.C298T:p.L100L,TMEM161B:NM_001349407:exon9:c.C844T:p.L282L,TMEM161B:NM_153354:exon9:c.C844T:p.L282L,TMEM161B:NM_001289008:exon10:c.C811T:p.L271L RS3097146 Systolic blood pressure (SBP):Bipolar disorder:Advanced age-related macular degeneration
5 89769728 2 MBLAC2 T C exonic nonsynonymous SNV MBLAC2:NM_203406:exon1:c.A382G:p.T128A
5 94826655 1 TTC37 C A exonic nonsynonymous SNV TTC37:NM_014639:exon37:c.G3888T:p.R1296S RS2303650 Differential exon level expression of KIAA0372 [probe 2867695] in brain cortex:Differential exon level expression of KIAA0372 [probe 2867742] in brain cortex:HDL cholesterol:Years of education
5 94861118 1 TTC37 G C exonic nonsynonymous SNV TTC37:NM_014639:exon15:c.C1309G:p.L437V RS17084873 Biploar disorder (bipolar schizoaffective disorder):HDL cholesterol:Years of education
5 95084131 1 RHOBTB3 G A exonic synonymous SNV RHOBTB3:NM_014899:exon4:c.G510A:p.A170A RS34896 Spine bone mineral density (BMD):Premature ovarian failure:HOMA-B:Triglycerides:Gene expression of RHOBTB3 in blood:Systolic blood pressure (SBP):Age at death with kuru exposure:College completion:Years of education
5 95091194 1 RHOBTB3 C T exonic synonymous SNV RHOBTB3:NM_014899:exon6:c.C777T:p.Y259Y RS34898 Fasting blood glucose:Triglycerides:Years of education:Acute lung injury following major trauma
5 95091201 1 RHOBTB3 A G exonic nonsynonymous SNV RHOBTB3:NM_014899:exon6:c.A784G:p.N262D RS34899 Spine bone mineral density (BMD):Premature ovarian failure:HOMA-B:Triglycerides:Gene expression of RHOBTB3 in blood:Systolic blood pressure (SBP):Comorbid depressive syndrome and alcohol dependence:Nausea in response to topiramate treatment in healthy volunteers:Age at death with kuru exposure:Years of education:College completion:Acute lung injury following major trauma
5 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 96118852 2 ERAP1 G C exonic nonsynonymous SNV ERAP1:NM_001040458:exon15:c.C2188G:p.Q730E,ERAP1:NM_001198541:exon15:c.C2188G:p.Q730E,ERAP1:NM_001349244:exon15:c.C2188G:p.Q730E,ERAP1:NM_016442:exon15:c.C2188G:p.Q730E RS27044 HOMA-B:Body mass index (BMI):Gene expression of ERAP1 (probeID ILMN_2336220) in cerebellum in Alzheimer's disease cases and controls:Birth weight:Serum metabolite (mass spec peak: 616.7 m/z):Gene expression of ERAP1 (probeID ILMN_2336220) in temporal cortex in Alzheimer's disease cases and controls:Serum metabolite (mass spec peak: 666.3 m/z):Serum metabolite (mass spec peak: 489.2 m/z)
5 96118866 1 ERAP1 C T exonic nonsynonymous SNV ERAP1:NM_001040458:exon15:c.G2174A:p.R725Q,ERAP1:NM_001198541:exon15:c.G2174A:p.R725Q,ERAP1:NM_001349244:exon15:c.G2174A:p.R725Q,ERAP1:NM_016442:exon15:c.G2174A:p.R725Q RS17482078 Diastolic blood pressure (DBP):Gene expression of ERAP1 (probeID ILMN_2336220) in cerebellum in Alzheimer's disease cases and controls:College completion:Behcet's disease with and without uveitis:Parkinson's disease:Behcet's disease:Gene expression of ERAP1 (probeID ILMN_2336220) in temporal cortex in Alzheimer's disease cases and controls
5 96121524 2 ERAP1 C T exonic synonymous SNV ERAP1:NM_001040458:exon13:c.G1911A:p.A637A,ERAP1:NM_001198541:exon13:c.G1911A:p.A637A,ERAP1:NM_001349244:exon13:c.G1911A:p.A637A,ERAP1:NM_016442:exon13:c.G1911A:p.A637A RS469783 Gene expression of ERAP2 [probe 1554273_a_at] in lymphoblastoid cell lines:Gene expression of ERAP2 [probe 227462_at] in lymphoblastoid cell lines:Gene expression of ERAP2 [probe 235104_at] in lymphoblastoid cell lines:Gene expression of ERAP1 [probe 209788_s_at] in lymphoblastoid cell lines:Gene expression of ERAP2 [probe 219759_at] in lymphoblastoid cell lines:Spine bone mineral density (BMD):Hip bone mineral density (BMD):Differential exon level expression of ERAP1 [probe 2868155] in peripheral blood mononuclear cells:Gene expression of ERAP1 [probe 2868131] in peripheral blood mononuclear cells:Gene expression of ERAP2 [probe 2821347] in peripheral blood mononuclear cells:Differential exon level expression of ERAP2 [probe 2821402] in peripheral blood mononuclear cells:Differential exon level expression of ERAP2 [probe 2821389] in peripheral blood mononuclear cells:Differential exon level expression of ERAP1 [probe 2868156] in peripheral blood mononuclear cells:Differential exon level expression of ERAP2 [probe 2821400] in peripheral blood mononuclear cells:Differential exon level expression of ERAP1 [probe 2868168] in peripheral blood mononuclear cells:Differential exon level expression of ERAP1 [probe 2868160] in peripheral blood mononuclear cells:Differential exon level expression of ERAP1 [probe 2868152] in peripheral blood mononuclear cells:Differential exon level expression of ERAP1 [probe 2868154] in peripheral blood mononuclear cells:Differential exon level expression of ERAP1 [probe 2868173] in peripheral blood mononuclear cells:Fasting insulin:HOMA-IR:HOMA-B:Severe diabetic retinopathy:Body mass index (BMI):Diastolic blood pressure (DBP):Variant Creutzfeldt-Jakob disease:Gene expression of ERAP1 (probeID ILMN_2336220) in cerebellum in Alzheimer's disease cases and controls:Obesity with early age of onset (age >2):Gene expression of ERAP1 (probeID ILMN_2336220) in temporal cortex in Alzheimer's disease cases and controls
5 96122210 1 ERAP1 C T exonic nonsynonymous SNV ERAP1:NM_001040458:exon12:c.G1723A:p.D575N,ERAP1:NM_001198541:exon12:c.G1723A:p.D575N,ERAP1:NM_001349244:exon12:c.G1723A:p.D575N,ERAP1:NM_016442:exon12:c.G1723A:p.D575N RS10050860 Gene expression of ERAP1 [probe 214012_at] in lymphoblastoid cell lines:Gene expression of ERAP1 [probe 209788_s_at] in lymphoblastoid cell lines:Differential exon level expression of ERAP1 [probe 2868144] in peripheral blood mononuclear cells:Differential exon level expression of ERAP1 [probe 2868145] in peripheral blood mononuclear cells:Differential exon level expression of ERAP1 [probe 2868133] in peripheral blood mononuclear cells:Differential exon level expression of ERAP1 [probe 2868142] in peripheral blood mononuclear cells:Differential exon level expression of ERAP1 [probe 2868161] in peripheral blood mononuclear cells:Gene expression of ERAP1 in Lymphoblastoid cell lines:Gene expression of ERAP1 in T cells:Gene expression of ERAP1 in peripheral blood monocytes:Gene expression of ARTS-1 in CD4+ lymphocytes:Ankylosing spondylitis:Ankylosing spondylitis (HLA-B27 positive):Gene expression of CAST in blood:Gene expression of LRAP in blood:Gene expression of ARTS-1///CAST in blood:Gene expression of ERAP1 [probeset 210385_s_at] in sputum:Gene expression of ERAP1 [probeset 214012_at] in sputum:Variant Creutzfeldt-Jakob disease:College completion: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
5 96124330 2 ERAP1 T C exonic nonsynonymous SNV ERAP1:NM_001040458:exon11:c.A1583G:p.K528R,ERAP1:NM_001198541:exon11:c.A1583G:p.K528R,ERAP1:NM_001349244:exon11:c.A1583G:p.K528R,ERAP1:NM_016442:exon11:c.A1583G:p.K528R RS30187 Gene expression of ERAP2 [probe 1554273_a_at] in lymphoblastoid cell lines:Gene expression of ERAP1 [probe 209788_s_at] in lymphoblastoid cell lines:Gene expression of ERAP1 [probe 214012_at] in lymphoblastoid cell lines:Differential exon level expression of ERAP1 [probe 2868154] in peripheral blood mononuclear cells:Differential exon level expression of ERAP1 [probe 2868145] in peripheral blood mononuclear cells:Differential exon level expression of ERAP1 [probe 2868156] in peripheral blood mononuclear cells:Differential exon level expression of ERAP1 [probe 2868152] in peripheral blood mononuclear cells:Gene expression of ERAP1 [probe 2868131] in peripheral blood mononuclear cells:Differential exon level expression of ARTS1 in brain cortex:Ankylosing spondylitis:HOMA-B:Fasting insulin:LDL cholesterol:Gene expression of ARTS-1 in CD4+ lymphocytes:Height:Body mass index (BMI):Psoriasis:Ankylosing spondylitis:Ankylosing spondylitis (HLA-B27 positive):Gene expression of LNPEP in blood:Gene expression of CAST in blood:Gene expression of LRAP in blood:Diastolic blood pressure (DBP):Gene expression of ERAP1 [probeset 209788_s_at] in sputum:Ankylosing spondylitis:Variant Creutzfeldt-Jakob disease:Gene expression of ERAP1 (probeID ILMN_2336220) in cerebellum in non-Alzheimer's disease samples:Gene expression of ERAP1 (probeID ILMN_2336220) in temporal cortex in non-Alzheimer's disease samples:Serum metabolite (mass spec peak: 616.7 m/z):Gene expression of ERAP1 in normal prepouch ileum:Gene expression of ERAP1 (probeID ILMN_2336220) in temporal cortex in Progressive Supranuclear Palsy cases:Serum metabolite (mass spec peak: 666.3 m/z):Gene expression of ERAP1 (probeID ILMN_2336220) in temporal cortex in Alzheimer's disease cases:Gene expression of ERAP1 (probeID ILMN_1752145) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ERAP1 (probeID ILMN_2336220) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ERAP1 (probeID ILMN_2336220) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ERAP1 (probeID ILMN_2336220) in cerebellum in Progressive Supranuclear Palsy cases:Years of education:Gene expression of ERAP1 (probeID ILMN_2336220) in cerebellum in Alzheimer's disease cases:Gene expression of ERAP1 (probeID ILMN_1752145) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ERAP1 (probeID ILMN_1752145) in temporal cortex in non-Alzheimer's disease samples:Gene expression of ERAP2 in normal prepouch ileum:Birth weight:Serum metabolite (mass spec peak: 489.2 m/z)
5 96126308 2 ERAP1 A G exonic synonymous SNV ERAP1:NM_001040458:exon9:c.T1359C:p.S453S,ERAP1:NM_001198541:exon9:c.T1359C:p.S453S,ERAP1:NM_001349244:exon9:c.T1359C:p.S453S,ERAP1:NM_016442:exon9:c.T1359C:p.S453S RS27529 Gene expression of ERAP1 [probe 214012_at] in lymphoblastoid cell lines:Gene expression of ERAP2 [probe 1554273_a_at] in lymphoblastoid cell lines:Gene expression of ERAP1 [probe 209788_s_at] in lymphoblastoid cell lines:PC aa C40:6:PC aa C38:0 (PC ae C40:7):PC aa C38:3:PC aa C38:6:PC aa C38:2:PC aa C36:2:PC ae C38:6:PC ae C40:0 (PC aa C40:7):PC aa C40:5:PC aa C36:3:Barnes Akathisia Rating Scale:HOMA-B:Fasting insulin:LDL cholesterol:Gene expression of ERAP1 in peripheral blood monocytes:Gene expression of ERAP2 in peripheral blood monocytes:Height:Body mass index (BMI):Diastolic blood pressure (DBP):Birth weight:Gene expression of ERAP1 (probeID ILMN_2336220) in temporal cortex in Alzheimer's disease cases and controls:Years of education:Serum unknown:Gene expression of ERAP2 (probeID ILMN_1743145) in whole blood:Serum metabolite (mass spec peak: 616.7 m/z):Serum metabolite (mass spec peak: 666.3 m/z):Transmission distortion:Serum metabolite (mass spec peak: 489.2 m/z):Gene expression of ERAP2 in normal prepouch ileum:Gene expression of ERAP1 (probeID ILMN_2336220) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ERAP1 in normal prepouch ileum
5 96129512 2 ERAP1 A G exonic synonymous SNV ERAP1:NM_001040458:exon6:c.T1068C:p.A356A,ERAP1:NM_001198541:exon6:c.T1068C:p.A356A,ERAP1:NM_001349244:exon6:c.T1068C:p.A356A,ERAP1:NM_016442:exon6:c.T1068C:p.A356A RS27434 Gene expression of ERAP1 [probe 209788_s_at] in lymphoblastoid cell lines:Gene expression of ERAP1 [probe 214012_at] in lymphoblastoid cell lines:Spine bone mineral density (BMD):Gene expression of ERAP1 [probe 2868131] in peripheral blood mononuclear cells:Differential exon level expression of ERAP1 [probe 2868144] in peripheral blood mononuclear cells:Differential exon level expression of ERAP1 [probe 2868173] in peripheral blood mononuclear cells:Differential exon level expression of ERAP1 [probe 2868144] in brain cortex:Differential exon level expression of ERAP1 [probe 2868179] in peripheral blood mononuclear cells:Ankylosing spondylitis:Total cholesterol:Height:Gene expression of LNPEP in blood:Gene expression of CAST in blood:Gene expression of LRAP in blood:Diastolic blood pressure (DBP):Gene expression of ERAP1 [probeset 209788_s_at] in sputum:Comorbid depressive syndrome and alcohol dependence:Ankylosing spondylitis:Bipolar disorder:Birth weight:Gene expression of ERAP1 (probeID ILMN_2336220) in temporal cortex in non-Alzheimer's disease samples:College completion:Gene expression of ERAP1 (probeID ILMN_2336220) in temporal cortex in Alzheimer's disease cases and controls:Drug-induced liver injury-all DILI cases with isoniazid-containing drug regimens implicated:Infant head circumference:Serum metabolite (mass spec peak: 616.7 m/z):Gene expression of ERAP1 (probeID ILMN_1752145) in temporal cortex in Alzheimer's disease cases and controls:Years of education:Gene expression of ERAP1 (probeID ILMN_2336220) in temporal cortex in Alzheimer's disease cases:Gene expression of ERAP1 in normal prepouch ileum
5 96129535 1 ERAP1 T C exonic nonsynonymous SNV ERAP1:NM_001040458:exon6:c.A1045G:p.M349V,ERAP1:NM_001198541:exon6:c.A1045G:p.M349V,ERAP1:NM_001349244:exon6:c.A1045G:p.M349V,ERAP1:NM_016442:exon6:c.A1045G:p.M349V
5 96139250 2 ERAP1 C G exonic nonsynonymous SNV ERAP1:NM_001040458:exon2:c.G380C:p.R127P,ERAP1:NM_001198541:exon2:c.G380C:p.R127P,ERAP1:NM_001349244:exon2:c.G380C:p.R127P,ERAP1:NM_016442:exon2:c.G380C:p.R127P RS26653 Gene expression of ERAP1 [probe 214012_at] in lymphoblastoid cell lines:Gene expression of ERAP1 [probe 209788_s_at] in lymphoblastoid cell lines:Barnes Akathisia Rating Scale:Total cholesterol:LDL cholesterol:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Coronary artery disease (CAD):Infant head circumference
5 96139464 1 ERAP1 C T exonic nonsynonymous SNV ERAP1:NM_001040458:exon2:c.G166A:p.E56K,ERAP1:NM_001198541:exon2:c.G166A:p.E56K,ERAP1:NM_001349244:exon2:c.G166A:p.E56K,ERAP1:NM_016442:exon2:c.G166A:p.E56K RS3734016 Simpson-Angus Scale:Barnes Akathisia Rating Scale:Abnormal Involuntary Movement Scale:HDL cholesterol:Infant head circumference
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 108713970 2 PJA2 C T exonic synonymous SNV PJA2:NM_014819:exon4:c.G1218A:p.E406E RS10042721 Gene expression of PJA2 in normal prepouch ileum
5 108713982 2 PJA2 T C exonic synonymous SNV PJA2:NM_014819:exon4:c.A1206G:p.A402A
5 108714298 2 PJA2 T C exonic nonsynonymous SNV PJA2:NM_014819:exon4:c.A890G:p.Q297R RS1045706 Height:Body mass index (BMI):Gene expression of PJA2 in blood:Adiponectin levels:Gene expression of PJA2 in normal prepouch ileum:Birth weight
5 109110537 2 MAN2A1 T A exonic synonymous SNV MAN2A1:NM_002372:exon8:c.T1245A:p.R415R RS6894260 Myocardial infarction (MI)
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 112312676 2 DCP2 T C exonic nonsynonymous SNV DCP2:NM_001242377:exon1:c.T46C:p.F16L,DCP2:NM_152624:exon1:c.T46C:p.F16L
5 112349070 1 DCP2 T C exonic synonymous SNV DCP2:NM_001242377:exon10:c.T1047C:p.A349A,DCP2:NM_152624:exon11:c.T1152C:p.A384A RS9326869 Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Comorbid depressive syndrome and alcohol dependence:Variant Creutzfeldt-Jakob disease:Birth weight
5 112406862 1 MCC G A exonic synonymous SNV MCC:NM_002387:exon10:c.C1284T:p.A428A,MCC:NM_001085377:exon12:c.C1854T:p.A618A RS2227950 Comorbid depressive syndrome and alcohol dependence:Birth weight
5 112899702 1 YTHDC2 A G exonic synonymous SNV YTHDC2:NM_001345976:exon18:c.A1689G:p.T563T,YTHDC2:NM_001345975:exon19:c.A2103G:p.T701T,YTHDC2:NM_022828:exon20:c.A2589G:p.T863T RS6886628 Height
5 112917278 1 YTHDC2 T G exonic synonymous SNV YTHDC2:NM_001345976:exon23:c.T2619G:p.S873S,YTHDC2:NM_001345975:exon24:c.T3033G:p.S1011S,YTHDC2:NM_022828:exon25:c.T3519G:p.S1173S RS11748794 Alzheimer's disease with psychotic symptoms (Alzheimer's disease with psychotic symptoms v. controls):Alzheimer's disease with psychotic symptoms (Alzheimer's disease with psychotic symptoms v. Alzheimer's disease without psychotic symptoms)
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 122359640 1 PPIC T C exonic nonsynonymous SNV PPIC:NM_000943:exon5:c.A569G:p.N190S RS451195 Eye color:Schizophrenia:Rheumatoid arthritis:HDL cholesterol:Triglycerides:Advanced age-related macular degeneration (geographic atrophy)
5 122682348 1 CEP120 A G exonic synonymous SNV CEP120:NM_001166226:exon20:c.T2748C:p.D916D,CEP120:NM_153223:exon21:c.T2826C:p.D942D RS1047438 Total cholesterol:HDL cholesterol:LDL cholesterol:Total cholesterol:Height:Body mass index (BMI):Microalbuminuria:Infant head circumference:Obesity with early age of onset (age >2):Years of education:Adiponectin levels:Aortic valve calcium:Advanced age-related macular degeneration (geographic atrophy)
5 128430757 2 ISOC1 T C exonic synonymous SNV ISOC1:NM_016048:exon1:c.T298C:p.L100L RS1127827 Gene expression of ISOC1 in peripheral blood monocytes:Microalbuminuria:Urinary albumin-to-creatinine ratio
5 130766662 2 RAPGEF6 T C exonic nonsynonymous SNV RAPGEF6:NM_016340:exon26:c.A4355G:p.Q1452R,RAPGEF6:NM_001164386:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_001164388:exon27:c.A4379G:p.Q1460R,RAPGEF6:NM_001164387:exon28:c.A4394G:p.Q1465R RS1291602 Gene expression of CDC42SE2 [probe 1552613_s_at] in lymphoblastoid cell lines:Gene expression of probe 229026_at in lymphoblastoid cell lines:Gene expression of CDC42SE2 [probe 1552612_at] in lymphoblastoid cell lines:Premature ovarian failure:Total cholesterol:LDL cholesterol:HDL cholesterol:Triglycerides change with statins:Lp-PLA2 mass:Height:Gene expression of CDC42SE2 in blood:Sporadic Creutzfeldt-Jakob disease:Parkinson's disease
5 131008194 2 FNIP1 T C exonic nonsynonymous SNV FNIP1:NM_001008738:exon13:c.A1859G:p.Q620R,FNIP1:NM_001346114:exon13:c.A1808G:p.Q603R,FNIP1:NM_133372:exon14:c.A1943G:p.Q648R RS26008 Triglycerides:Simpson-Angus Scale:Triglycerides:Neuroblastoma (brain cancer):Gene expression of RAPGEF6 in blood:Age at death with kuru exposure:Hypertension (early onset hypertension):College completion:Advanced age-related macular degeneration:Parkinson's disease
5 132098242 2 8-Sep A G exonic synonymous SNV SEPT8:NM_001098811:exon5:c.T630C:p.N210N,SEPT8:NM_001098812:exon5:c.T630C:p.N210N,SEPT8:NM_001098813:exon5:c.T450C:p.N150N,SEPT8:NM_001300798:exon5:c.T624C:p.N208N,SEPT8:NM_001300799:exon5:c.T624C:p.N208N,SEPT8:NM_015146:exon5:c.T630C:p.N210N
5 132150948 2 SOWAHA T G exonic nonsynonymous SNV SOWAHA:NM_175873:exon1:c.T1635G:p.F545L
5 132437531 1 HSPA4 C T exonic synonymous SNV HSPA4:NM_002154:exon17:c.C2118T:p.I706I
5 134076812 1 CAMLG G A exonic nonsynonymous SNV CAMLG:NM_001745:exon2:c.G232A:p.V78I RS12657663 Gene expression of KLHDC4 [probe 221219_s_at] in lymphoblastoid cell lines:Simpson-Angus Scale:Height:Urinary albumin-to-creatinine ratio:Parkinson's disease:Gene expression of CAMLG (ENSG00000164615) in dendritic cells:Years of education
5 135276314 2 FBXL21 C T exonic unknown UNKNOWN RS40986 Irritible bowel syndrome:Schizophrenia:HDL cholesterol change with statins:Urinary albumin-to-creatinine ratio:Infant head circumference:Advanced age-related macular degeneration (geographic atrophy)
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 135382989 1 TGFBI G C exonic synonymous SNV TGFBI:NM_000358:exon6:c.G651C:p.L217L RS1442 HOMA-B
5 135388663 1 TGFBI A G exonic synonymous SNV TGFBI:NM_000358:exon8:c.A981G:p.V327V RS1054124 HDL cholesterol
5 135392426 1 TGFBI T C exonic synonymous SNV TGFBI:NM_000358:exon12:c.T1620C:p.F540F RS4669 Height:Aortic valve calcium:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
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 137665323 2 CDC25C G A exonic nonsynonymous SNV CDC25C:NM_001287582:exon3:c.C208T:p.R70C,CDC25C:NM_001287583:exon3:c.C442T:p.R148C,CDC25C:NM_001318098:exon3:c.C259T:p.R87C,CDC25C:NM_001790:exon3:c.C208T:p.R70C RS3734166 Irritible bowel syndrome:Schizophrenia:Triglycerides:Body mass index (BMI):Refractive error
5 137708434 1 KDM3B C T exonic synonymous SNV KDM3B:NM_016604:exon2:c.C264T:p.I88I RS4835678 Rheumatoid arthritis, combined control dataset:Irritible bowel syndrome:Simpson-Angus Scale:HDL cholesterol:Body mass index (BMI):Aortic valve calcium:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:fMRI brain tests in schizophrenia
5 137717265 2 KDM3B G A exonic nonsynonymous SNV KDM3B:NM_016604:exon6:c.G766A:p.A256T
5 137754695 1 KDM3B T C exonic synonymous SNV KDM3B:NM_016604:exon14:c.T3489C:p.G1163G RS7726234 Irritible bowel syndrome:Schizophrenia:Differential exon level expression of REEP2 [probe 2830841] in brain cortex:HDL cholesterol:Asthma:Body mass index (BMI):Late onset Alzheimer's disease:Aortic valve calcium:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Obsessive-compulsive disorder (OCD)
5 137892170 1 HSPA9 G A exonic synonymous SNV HSPA9:NM_004134:exon16:c.C1933T:p.L645L RS10117 Body mass index (BMI):Urinary albumin-to-creatinine ratio:Refractive error
5 138643395 1 MATR3 A G exonic synonymous SNV MATR3:NM_001194955:exon2:c.A291G:p.L97L,MATR3:NM_018834:exon2:c.A291G:p.L97L,MATR3:NM_001194954:exon4:c.A291G:p.L97L,MATR3:NM_199189:exon5:c.A291G:p.L97L
5 138713959 2 SLC23A1 A C exonic nonsynonymous SNV SLC23A1:NM_005847:exon11:c.T1261G:p.S421A,SLC23A1:NM_152685:exon11:c.T1273G:p.S425A
5 138857919 2 TMEM173 T C exonic nonsynonymous SNV TMEM173:NM_001301738:exon5:c.A695G:p.H232R,TMEM173:NM_198282:exon6:c.A695G:p.H232R RS1131769 Triglycerides change with statins:HDL cholesterol:Total cholesterol:LDL cholesterol:Comorbid depressive syndrome and alcohol dependence:Gene expression of DNAJC18 (ENSG00000170464) in dendritic cells
5 138857925 1 TMEM173 C G exonic nonsynonymous SNV TMEM173:NM_001301738:exon5:c.G689C:p.G230A,TMEM173:NM_198282:exon6:c.G689C:p.G230A
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 139936980 2 SRA1 A G exonic nonsynonymous SNV SRA1:NM_001253764:exon1:c.T58C:p.C20R
5 140021482 1 TMCO6 C T exonic synonymous SNV TMCO6:NM_001300980:exon4:c.C342T:p.V114V,TMCO6:NM_018502:exon4:c.C342T:p.V114V
5 140023238 1 TMCO6 C G exonic nonsynonymous SNV TMCO6:NM_001300982:exon6:c.C176G:p.T59S,TMCO6:NM_001300980:exon8:c.C914G:p.T305S,TMCO6:NM_018502:exon8:c.C896G:p.T299S RS17208187 Triglycerides:HDL cholesterol change with statins:Gene expression of TMCO6 in peripheral blood monocytes:Height:Systolic blood pressure (SBP):Gene expression change of WDR55 (ENSG00000120314) in dendritic cells after treatment with Mycobacterium tuberculosis:Obesity with early age of onset (age >2):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Gene expression of IK (ENSG00000113141) in dendritic cells treated with Mycobacterium tuberculosis
5 140048267 2 WDR55 T C exonic nonsynonymous SNV WDR55:NM_017706:exon4:c.T451C:p.C151R
5 140048544 1 WDR55 C T exonic nonsynonymous SNV WDR55:NM_017706:exon5:c.C629T:p.S210F RS2286394 Triglycerides:HDL cholesterol change with statins:Gene expression of DND1///WDR55 in blood:Gene expression of CD14 in blood:Gene expression of HARSL in blood:Gene expression of SRA1///APBB3 in blood:Gene expression of ZMAT2 in blood:Gene expression of PCDHA2 in blood:Systolic blood pressure (SBP):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of VTRNA1-2 in normal prepouch ileum:Obesity with early age of onset (age >2):Advanced age-related macular degeneration
5 140052271 1 DND1 A G exonic synonymous SNV DND1:NM_194249:exon3:c.T363C:p.H121H
5 140052916 1 DND1 C G exonic nonsynonymous SNV DND1:NM_194249:exon2:c.G82C:p.E28Q
5 140476403 1 PCDHB2 G A exonic nonsynonymous SNV PCDHB2:NM_018936:exon1:c.G2029A:p.E677K
5 141014494 1 HDAC3 T C exonic synonymous SNV HDAC3:NM_003883:exon3:c.A165G:p.Q55Q RS2530223 Differential splicing of HDAC3 [probeset 2878760] in lymphoblastoid cell lines:Bipolar disorder:College completion:Years of education
5 141307833 1 KIAA0141 T C exonic nonsynonymous SNV KIAA0141:NM_001142603:exon4:c.T382C:p.F128L,KIAA0141:NM_014773:exon4:c.T382C:p.F128L RS10036567 Gene expression of Hs.483613 in YRI lymphoblastoid cell lines:Fasting blood glucose:Lp-PLA2 mass:Obesity with early age of onset (age >2)
5 141309824 1 KIAA0141 G A exonic nonsynonymous SNV KIAA0141:NM_001142603:exon7:c.G739A:p.A247T,KIAA0141:NM_014773:exon7:c.G739A:p.A247T RS351260 Arthritis including non-Rheumatoid:Longstanding arthritis:Rheumatoid arthritis:Differential exon level expression of KIAA0141 [probe 2832980] in peripheral blood mononuclear cells:Differential exon level expression of KIAA0141 [probe 2832980] in brain cortex:Lp-PLA2 mass:Gene expression of KIAA0141 [probe ILMN_8708] in osteoblasts treated with BMP2:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Mitral annular calcium:Advanced age-related macular degeneration (geographic atrophy)
5 141318162 1 KIAA0141 G A exonic synonymous SNV KIAA0141:NM_001142603:exon12:c.G1386A:p.L462L,KIAA0141:NM_014773:exon12:c.G1386A:p.L462L
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 142421415 2 ARHGAP26 T G exonic synonymous SNV ARHGAP26:NM_001135608:exon14:c.T1245G:p.G415G,ARHGAP26:NM_001349547:exon14:c.T1137G:p.G379G,ARHGAP26:NM_015071:exon14:c.T1245G:p.G415G RS2270068 Type 2 diabetes
5 145439647 2 SH3RF2 T C exonic nonsynonymous SNV SH3RF2:NM_152550:exon9:c.T1774C:p.W592R
5 145442203 1 SH3RF2 G C exonic nonsynonymous SNV SH3RF2:NM_152550:exon10:c.G2129C:p.G710A RS1056149 Gene expression of LARS [probe 217810_x_at] in lymphoblastoid cell lines:Urinary albumin-to-creatinine ratio:Microalbuminuria:Comorbid depressive syndrome and alcohol dependence:Refractive error:Gene expression of LARS in normal prepouch ileum
5 145499996 1 LARS C T exonic nonsynonymous SNV LARS:NM_001317964:exon30:c.G3125A:p.R1042K,LARS:NM_001317965:exon30:c.G3101A:p.R1034K,LARS:NM_016460:exon30:c.G3182A:p.R1061K,LARS:NM_020117:exon31:c.G3263A:p.R1088K RS10988 Gene expression of LARS [probe 217810_x_at] in lymphoblastoid cell lines:Differential exon level expression of LARS [probe 2879978] in peripheral blood mononuclear cells:Differential exon level expression of LARS [probe 2879983] in peripheral blood mononuclear cells:Fasting blood glucose:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene expression of LARS in blood:Gene expression of LARS in normal prepouch ileum:Obesity with early age of onset (age >2):Hypertension (early onset hypertension):Years of education:Gene expression of PLAC8L1 in normal prepouch ileum
5 145508340 1 LARS A G exonic synonymous SNV LARS:NM_001317964:exon26:c.T2637C:p.T879T,LARS:NM_001317965:exon26:c.T2613C:p.T871T,LARS:NM_016460:exon26:c.T2694C:p.T898T,LARS:NM_020117:exon27:c.T2775C:p.T925T RS2895647 Gene expression of LARS [probe 217810_x_at] in lymphoblastoid cell lines:Gene expression of KIAA1311 probe [GI_37549971-S] in brain cortex with no Alzheimer's interaction:Biploar disorder (bipolar schizoaffective disorder):Fasting blood glucose:Gene expression of LARS in peripheral blood monocytes:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Microalbuminuria:Obesity with early age of onset (age >2):Years of education
5 145508636 1 LARS T C exonic nonsynonymous SNV LARS:NM_001317964:exon25:c.A2536G:p.N846D,LARS:NM_001317965:exon25:c.A2512G:p.N838D,LARS:NM_016460:exon25:c.A2593G:p.N865D,LARS:NM_020117:exon26:c.A2674G:p.N892D
5 145508637 1 LARS A C exonic synonymous SNV LARS:NM_001317964:exon25:c.T2535G:p.V845V,LARS:NM_001317965:exon25:c.T2511G:p.V837V,LARS:NM_016460:exon25:c.T2592G:p.V864V,LARS:NM_020117:exon26:c.T2673G:p.V891V
5 145523105 1 LARS G A exonic synonymous SNV LARS:NM_001317964:exon18:c.C1609T:p.L537L,LARS:NM_001317965:exon18:c.C1585T:p.L529L,LARS:NM_016460:exon18:c.C1666T:p.L556L,LARS:NM_020117:exon19:c.C1747T:p.L583L
5 145539996 1 LARS T G exonic synonymous SNV LARS:NM_001317964:exon6:c.A510C:p.S170S,LARS:NM_001317965:exon6:c.A486C:p.S162S,LARS:NM_016460:exon6:c.A567C:p.S189S,LARS:NM_020117:exon7:c.A648C:p.S216S
5 145543972 1 LARS G A exonic synonymous SNV LARS:NM_001317964:exon5:c.C357T:p.G119G,LARS:NM_001317965:exon5:c.C333T:p.G111G,LARS:NM_016460:exon5:c.C414T:p.G138G,LARS:NM_020117:exon6:c.C495T:p.G165G RS3763373 Fasting blood glucose:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Microalbuminuria:Obesity with early age of onset (age >2):Years of education:Gene expression of PLAC8L1 in normal prepouch ileum:Gene expression of LARS in normal prepouch ileum
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 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 149919739 1 NDST1 G C exonic synonymous SNV NDST1:NM_001301063:exon8:c.G1662C:p.T554T,NDST1:NM_001543:exon8:c.G1662C:p.T554T RS1290147 Waist hip ratio:Refractive error
5 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 150425467 1 TNIP1 G A exonic synonymous SNV TNIP1:NM_001252386:exon8:c.C732T:p.G244G,TNIP1:NM_001258455:exon8:c.C891T:p.G297G,TNIP1:NM_001258456:exon8:c.C891T:p.G297G,TNIP1:NM_001252385:exon9:c.C891T:p.G297G,TNIP1:NM_001252390:exon9:c.C891T:p.G297G,TNIP1:NM_001252391:exon9:c.C891T:p.G297G,TNIP1:NM_001252392:exon9:c.C891T:p.G297G,TNIP1:NM_001252393:exon9:c.C891T:p.G297G,TNIP1:NM_001258454:exon9:c.C891T:p.G297G,TNIP1:NM_006058:exon9:c.C891T:p.G297G RS2233299 Gene expression of GPX3 in blood:Infant head circumference:Myasthenia gravis:Asthma:College completion:Aortic valve calcium
5 150436503 1 TNIP1 G C exonic nonsynonymous SNV TNIP1:NM_001252386:exon5:c.C292G:p.P98A,TNIP1:NM_001258455:exon5:c.C451G:p.P151A,TNIP1:NM_001258456:exon5:c.C451G:p.P151A,TNIP1:NM_001252385:exon6:c.C451G:p.P151A,TNIP1:NM_001252390:exon6:c.C451G:p.P151A,TNIP1:NM_001252391:exon6:c.C451G:p.P151A,TNIP1:NM_001252392:exon6:c.C451G:p.P151A,TNIP1:NM_001252393:exon6:c.C451G:p.P151A,TNIP1:NM_001258454:exon6:c.C451G:p.P151A,TNIP1:NM_006058:exon6:c.C451G:p.P151A RS2233290 Myasthenia gravis
5 150489390 2 ANXA6 A G exonic synonymous SNV ANXA6:NM_001193544:exon21:c.T1512C:p.P504P,ANXA6:NM_001155:exon22:c.T1608C:p.P536P RS1133202 Spine bone mineral density (BMD):Hip bone mineral density (BMD):Longstanding arthritis:Arthritis including non-Rheumatoid:Rheumatoid arthritis:Total cholesterol:PROP taste detection threshold
5 150639409 1 GM2A A G exonic nonsynonymous SNV GM2A:NM_000405:exon2:c.A175G:p.I59V,GM2A:NM_001167607:exon2:c.A175G:p.I59V RS153477 Fasting insulin:HOMA-IR:Triglycerides change with statins:Triglycerides:Gene expression of GM2A [probeset 33646_g_at] in sputum:Gene expression of GM2A [probeset 215891_s_at] in sputum:Parkinson's disease
5 150639439 1 GM2A A G exonic nonsynonymous SNV GM2A:NM_000405:exon2:c.A205G:p.M69V,GM2A:NM_001167607:exon2:c.A205G:p.M69V RS153478 Gene expression of probe 1559776_at in lymphoblastoid cell lines:Simpson-Angus Scale:HOMA-IR:Fasting insulin:Fasting blood glucose:Gene expression of GM2A in peripheral blood monocytes:Gene expression of NAG18 in peripheral blood monocytes:Triglycerides:Parkinson's disease
5 150646888 1 GM2A T C exonic nonsynonymous SNV GM2A:NM_000405:exon4:c.T458C:p.V153A
5 153413390 1 FAM114A2 C T exonic nonsynonymous SNV FAM114A2:NM_001317995:exon3:c.G154A:p.G52S,FAM114A2:NM_001317994:exon4:c.G364A:p.G122S,FAM114A2:NM_018691:exon4:c.G364A:p.G122S,FAM114A2:NM_001317993:exon5:c.G364A:p.G122S RS2578377 Hip bone mineral density (BMD):Differential exon level expression of C5orf3 [probe 2882611] in brain cortex:Differential exon level expression of C5orf3 [probe 2882608] in brain cortex:Differential exon level expression of C5orf3 [probe 2882608] in peripheral blood mononuclear cells:Differential exon level expression of C5orf3 [probe 2882607] in brain cortex:Differential exon level expression of C5orf3 [probe 2882611] in peripheral blood mononuclear cells:HDL cholesterol:LDL cholesterol:Refractive error:Aortic valve calcium:Primary rhegmatogenous retinal detachment:Gene expression of FAM114A2 in normal prepouch ileum:Birth weight
5 153429459 1 MFAP3 T C exonic synonymous SNV MFAP3:NM_001242336:exon2:c.T177C:p.D59D,MFAP3:NM_005927:exon2:c.T177C:p.D59D
5 153432733 1 MFAP3 T C exonic synonymous SNV MFAP3:NM_001135037:exon2:c.T111C:p.A37A,MFAP3:NM_001242336:exon3:c.T549C:p.A183A,MFAP3:NM_005927:exon3:c.T549C:p.A183A
5 153432970 1 MFAP3 C T exonic synonymous SNV MFAP3:NM_001135037:exon2:c.C348T:p.D116D,MFAP3:NM_001242336:exon3:c.C786T:p.D262D,MFAP3:NM_005927:exon3:c.C786T:p.D262D RS2255493 HDL cholesterol:LDL cholesterol:Gene expression of FAM114A2 in normal prepouch ileum:Birth weight:Aortic valve calcium
5 154268902 2 GEMIN5 C T exonic synonymous SNV GEMIN5:NM_001252156:exon27:c.G4335A:p.A1445A,GEMIN5:NM_015465:exon27:c.G4338A:p.A1446A RS816739 Systolic blood pressure (SBP):Aortic valve calcium
5 154278151 1 GEMIN5 G A exonic nonsynonymous SNV GEMIN5:NM_001252156:exon23:c.C3191T:p.A1064V,GEMIN5:NM_015465:exon23:c.C3194T:p.A1065V
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 159820931 1 ZBED8 C A exonic nonsynonymous SNV ZBED8:NM_022090:exon2:c.G1567T:p.A523S,ZBED8:NM_001303251:exon3:c.G1567T:p.A523S RS10515808 Gene expression of SLU7 [transcript NM_006425, probe A_24_P174824] in liver:Weight loss after Roux-en-Y gastric bypass surgery:Birth weight:Serum metabolite (mass spec peak: 831.1 m/z)
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 167891830 1 WWC1 T C exonic synonymous SNV WWC1:NM_001161661:exon21:c.T3031C:p.L1011L,WWC1:NM_001161662:exon21:c.T3031C:p.L1011L,WWC1:NM_015238:exon21:c.T3013C:p.L1005L RS3203960 LDL cholesterol change with statins:Age at death with kuru exposure:Mitral annular calcium:Advanced age-related macular degeneration (geographic atrophy):Birth weight
5 167937607 1 RARS G A exonic synonymous SNV RARS:NM_002887:exon12:c.G1368A:p.S456S RS2290629 HOMA-B:Fasting insulin:Waist hip ratio
5 167943827 1 RARS G A exonic synonymous SNV RARS:NM_002887:exon13:c.G1497A:p.A499A RS653568 Triglycerides:Differential exon level expression of RARS [probe 2839673] in peripheral blood mononuclear cells:Differential exon level expression of RARS [probe 2839673] in brain cortex:Triglycerides change with statins:Partial epilepsy:Asthma:Variant Creutzfeldt-Jakob disease:Sporadic Creutzfeldt-Jakob disease:Salmonella-induced pyroptosis
5 169021610 2 SPDL1 C T exonic synonymous SNV SPDL1:NM_001329639:exon7:c.C816T:p.L272L,SPDL1:NM_001329640:exon7:c.C816T:p.L272L,SPDL1:NM_001329641:exon7:c.C816T:p.L272L,SPDL1:NM_017785:exon7:c.C816T:p.L272L,SPDL1:NM_001329642:exon8:c.C603T:p.L201L,SPDL1:NM_001329643:exon8:c.C603T:p.L201L RS4493692 Total cholesterol:LDL cholesterol:Waist hip ratio:Years of education:College completion:Gene expression of CCDC99 in normal prepouch ileum:Diabetic retinopathy in Type 2 diabetes mellitus
5 169028481 2 SPDL1 T C exonic nonsynonymous SNV SPDL1:NM_001329639:exon11:c.T1522C:p.Y508H,SPDL1:NM_001329640:exon11:c.T1522C:p.Y508H,SPDL1:NM_001329641:exon11:c.T1522C:p.Y508H,SPDL1:NM_017785:exon11:c.T1522C:p.Y508H,SPDL1:NM_001329642:exon12:c.T1309C:p.Y437H,SPDL1:NM_001329643:exon12:c.T1309C:p.Y437H RS3797713 Spine bone mineral density (BMD):Hip bone mineral density (BMD):Arthritis including non-Rheumatoid:Total cholesterol:LDL cholesterol:Gene expression of FLJ20364 in CD4+ lymphocytes:Waist hip ratio:Alzheimer's disease (APOE3 homozygotes):Gene expression of CCDC99 in normal prepouch ileum:Diabetic retinopathy in Type 2 diabetes mellitus:Hepatitis C virus (HCV)-induced liver fibrosis:College completion:Transmission distortion:Years of education
5 169031150 2 SPDL1 T C exonic nonsynonymous SNV SPDL1:NM_001329641:exon12:c.T1757C:p.L586S,SPDL1:NM_017785:exon12:c.T1757C:p.L586S,SPDL1:NM_001329643:exon13:c.T1544C:p.L515S RS3777084 Total cholesterol:LDL cholesterol:Waist hip ratio:College completion:Gene expression of CCDC99 in normal prepouch ileum:Diabetic retinopathy in Type 2 diabetes mellitus:Years of education
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 175998246 1 CDHR2 T C exonic synonymous SNV CDHR2:NM_001171976:exon6:c.T348C:p.D116D,CDHR2:NM_017675:exon6:c.T348C:p.D116D RS17078320 HDL cholesterol:Fasting blood glucose
5 176002144 2 CDHR2 A C exonic synonymous SNV CDHR2:NM_001171976:exon8:c.A555C:p.I185I,CDHR2:NM_017675:exon8:c.A555C:p.I185I RS4242200 HOMA-B:Triglycerides change with statins:Gene expression of DTNBP1 in peripheral blood monocytes:HDL cholesterol:Mitral annular calcium:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
5 176004476 2 CDHR2 T C exonic nonsynonymous SNV CDHR2:NM_001171976:exon13:c.T1271C:p.V424A,CDHR2:NM_017675:exon13:c.T1271C:p.V424A
5 176005477 1 CDHR2 C T exonic synonymous SNV CDHR2:NM_001171976:exon16:c.C1686T:p.D562D,CDHR2:NM_017675:exon16:c.C1686T:p.D562D RS2358747 HDL cholesterol:Chronic kidney disease
5 176011889 1 CDHR2 G A exonic synonymous SNV CDHR2:NM_001171976:exon19:c.G2607A:p.A869A,CDHR2:NM_017675:exon19:c.G2607A:p.A869A RS4868660 Irritible bowel syndrome:Gene expression of SNCB (probeID ILMN_1779343) in cerebellum in Alzheimer's disease cases:Gene expression of SNCB (probeID ILMN_1779343) in cerebellum in Alzheimer's disease cases and controls
5 176017639 1 CDHR2 C A exonic nonsynonymous SNV CDHR2:NM_001171976:exon28:c.C3490A:p.L1164M,CDHR2:NM_017675:exon28:c.C3490A:p.L1164M
5 176517461 2 FGFR4 T G exonic synonymous SNV FGFR4:NM_022963:exon2:c.T162G:p.R54R,FGFR4:NM_001291980:exon3:c.T162G:p.R54R,FGFR4:NM_002011:exon3:c.T162G:p.R54R,FGFR4:NM_213647:exon3:c.T162G:p.R54R
5 176517797 2 FGFR4 C T exonic nonsynonymous SNV FGFR4:NM_022963:exon3:c.C407T:p.P136L,FGFR4:NM_001291980:exon4:c.C407T:p.P136L,FGFR4:NM_002011:exon4:c.C407T:p.P136L,FGFR4:NM_213647:exon4:c.C407T:p.P136L RS376618 Cystatin C in serum:Height:Body mass index (BMI):Neuroblastoma (brain cancer):Gene expression of RAB24 in blood:Gene expression of AC146507.3///MXD3 in blood
5 176518784 2 FGFR4 C T exonic synonymous SNV FGFR4:NM_022963:exon5:c.C702T:p.R234R,FGFR4:NM_001291980:exon6:c.C702T:p.R234R,FGFR4:NM_002011:exon6:c.C702T:p.R234R,FGFR4:NM_213647:exon6:c.C702T:p.R234R
5 176520243 2 FGFR4 G A exonic nonsynonymous SNV FGFR4:NM_002011:exon9:c.G1162A:p.G388R,FGFR4:NM_213647:exon9:c.G1162A:p.G388R RS351855 HOMA-IR:Fasting blood glucose:Fasting insulin:HDL cholesterol:Chronic kidney disease:Cystatin C in serum:Serum creatinine:Total cholesterol:Gene expression of FGFR4 in normal prepouch ileum:Gene expression of PRELID1 in normal prepouch ileum:Prostate cancer:Aortic valve calcium
5 176733116 2 PRELID1 A G exonic synonymous SNV PRELID1:NM_001271828:exon4:c.A450G:p.R150R,PRELID1:NM_013237:exon4:c.A450G:p.R150R RS4631 Gene expression of PRELID1 in normal prepouch ileum:Gene expression of RAB24 in normal prepouch ileum
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 176894491 1 DBN1 T C exonic synonymous SNV DBN1:NM_004395:exon5:c.A468G:p.A156A,DBN1:NM_080881:exon6:c.A474G:p.A158A
5 176940384 1 DDX41 G A exonic synonymous SNV DDX41:NM_001321732:exon10:c.C822T:p.R274R,DDX41:NM_001321830:exon11:c.C822T:p.R274R,DDX41:NM_016222:exon11:c.C1200T:p.R400R RS335438 Gene expression of DOK3 (ENSG00000146094) in dendritic cells
5 176951276 2 FAM193B A G exonic nonsynonymous SNV FAM193B:NM_001190946:exon6:c.T2206C:p.S736P
5 177031348 1 B4GALT7 T C exonic synonymous SNV B4GALT7:NM_007255:exon2:c.T219C:p.R73R
5 177035964 1 B4GALT7 T C exonic synonymous SNV B4GALT7:NM_007255:exon5:c.T777C:p.H259H
5 179020622 1 RUFY1 T C exonic synonymous SNV RUFY1:NM_001040451:exon10:c.T1065C:p.N355N,RUFY1:NM_001040452:exon11:c.T1065C:p.N355N,RUFY1:NM_025158:exon11:c.T1389C:p.N463N RS4701135 PROP taste detection threshold:Birth weight
5 179025789 1 RUFY1 G A exonic synonymous SNV RUFY1:NM_001040451:exon13:c.G1404A:p.R468R,RUFY1:NM_001040452:exon14:c.G1404A:p.R468R,RUFY1:NM_025158:exon14:c.G1728A:p.R576R
5 179193598 1 MAML1 C T exonic synonymous SNV MAML1:NM_014757:exon2:c.C1587T:p.S529S RS3797776 Gene expression of CANX in Fibroblasts:Gene expression of CANX in blood:Gene expression of MAML1///LTC4S in blood:Obesity with early age of onset (age >2)
5 179201847 1 MAML1 G A exonic nonsynonymous SNV MAML1:NM_014757:exon5:c.G3020A:p.S1007N RS6895902 Gene expression of CANX [probe 200068_s_at] in prefrontal cortex:Gene expression of PRM3 in peripheral blood monocytes:Gene expression of LTC4S in peripheral blood monocytes:Body mass index (BMI):Gene expression of CANX [probe ILMN_20955] in osteoblasts treated with BMP2:Gene expression of AC010216.4 in blood:Gene expression of CANX in blood:Obesity with early age of onset (age >2)
5 179260153 1 SQSTM1 C T exonic synonymous SNV SQSTM1:NM_003900:exon6:c.C876T:p.D292D,SQSTM1:NM_001142298:exon7:c.C624T:p.D208D,SQSTM1:NM_001142299:exon7:c.C624T:p.D208D RS4935 Gene expression of SQSTM1 in Caudal pons:Gene expression of SQSTM1 in Frontal cortex:Gene expression of SQSTM1 in Temporal cortex:Gene expression of SQSTM1 in Cerebellum:Comorbid depressive syndrome and alcohol dependence:Years of education:Salmonella-induced pyroptosis:Refractive error
5 179260213 1 SQSTM1 G A exonic synonymous SNV SQSTM1:NM_003900:exon6:c.G936A:p.R312R,SQSTM1:NM_001142298:exon7:c.G684A:p.R228R,SQSTM1:NM_001142299:exon7:c.G684A:p.R228R RS4797 Gene expression of SQSTM1 in Cerebellum:Gene expression of SQSTM1 in Frontal cortex:Height:Comorbid depressive syndrome and alcohol dependence:Gene expression of C5ORF45 (probeID ILMN_2409879) in breast tumors:Years of education:Refractive error
5 179264731 1 MRNIP T C exonic nonsynonymous SNV MRNIP:NM_001017987:exon5:c.A527G:p.Q176R,MRNIP:NM_016175:exon7:c.A692G:p.Q231R RS10277 Gene expression of SQSTM1 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of SQSTM1 [probe 213112_s_at] in lymphoblastoid cell lines:Gene expression of SQSTM1 in brain cortex:Gene expression of OSIL in blood cells in Celiac disease:Differential exon level expression of SQSTM1 [probe 2844524] in brain cortex:Gene expression of SQSTM1 [probe GI_19923742-S] in brain cortex with Alzheimer's interaction:2 hour glucose:Gene expression of CNOT6 [probe 217970_s_at] in prefrontal cortex:Gene expression of SQSTM1 in Cerebellum:Gene expression of SQSTM1 in Caudal pons:Gene expression of SQSTM1 in Frontal cortex:Gene expression of SQSTM1 in CD4+ lymphocytes:Height:Gene expression of SQSTM1 [probe ILMN_22135] in osteoblasts treated with PGE2:Gene expression of SQSTM1 [probe ILMN_22135] in untreated osteoblasts:Gene expression of SQSTM1 [probe ILMN_22135] in osteoblasts treated with dexamethasone:Gene expression of SQSTM1 [probe ILMN_22135] in osteoblasts treated with BMP2:Gene expression of SQSTM1 in liver:Gene expression of SQSTM1///C5orf45 in blood:Gene expression of SQSTM1 [probeset 213112_s_at] in sputum:Gene expression of C5orf45 [probeset 220341_s_at] in sputum:Gene expression of SQSTM1 in liver:Gene expression of SQSTM1 (probeID ILMN_1703856) in whole blood:Years of education:Refractive error:Obesity with early age of onset (age >2):Transmission distortion
5 179285752 1 MRNIP G A exonic synonymous SNV MRNIP:NM_001017987:exon1:c.C45T:p.C15C,MRNIP:NM_016175:exon1:c.C45T:p.C15C RS10060182 Gene expression of OSIL in blood cells in Celiac disease:Gene expression of SQSTM1 in CD4+ lymphocytes:Gene expression of SQSTM1///C5orf45 in blood:Gene expression of C5orf45 [probeset 220341_s_at] in sputum:College completion:Refractive error:Years of education
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 179498595 2 RNF130 C T exonic synonymous SNV RNF130:NM_001280801:exon1:c.G108A:p.T36T,RNF130:NM_018434:exon1:c.G108A:p.T36T
5 179498658 1 RNF130 G T exonic synonymous SNV RNF130:NM_001280801:exon1:c.C45A:p.L15L,RNF130:NM_018434:exon1:c.C45A:p.L15L
5 180218668 1 MGAT1 A G exonic nonsynonymous SNV MGAT1:NM_001114619:exon2:c.T1304C:p.L435P,MGAT1:NM_001114620:exon2:c.T1304C:p.L435P,MGAT1:NM_002406:exon2:c.T1304C:p.L435P,MGAT1:NM_001114617:exon3:c.T1304C:p.L435P,MGAT1:NM_001114618:exon3:c.T1304C:p.L435P RS634501 Triglycerides change with statins
5 180218820 1 MGAT1 C A exonic synonymous SNV MGAT1:NM_001114619:exon2:c.G1152T:p.V384V,MGAT1:NM_001114620:exon2:c.G1152T:p.V384V,MGAT1:NM_002406:exon2:c.G1152T:p.V384V,MGAT1:NM_001114617:exon3:c.G1152T:p.V384V,MGAT1:NM_001114618:exon3:c.G1152T:p.V384V
5 180218831 1 MGAT1 G A exonic synonymous SNV MGAT1:NM_001114619:exon2:c.C1141T:p.L381L,MGAT1:NM_001114620:exon2:c.C1141T:p.L381L,MGAT1:NM_002406:exon2:c.C1141T:p.L381L,MGAT1:NM_001114617:exon3:c.C1141T:p.L381L,MGAT1:NM_001114618:exon3:c.C1141T:p.L381L RS2070924 LDL cholesterol change with statins:Serum creatinine:Chronic kidney disease:Gene expression of MGAT1 in blood:Gene expression of [probe 4040300 centered at chr5:180144743] in blood
5 180219304 1 MGAT1 C T exonic nonsynonymous SNV MGAT1:NM_001114619:exon2:c.G668A:p.R223Q,MGAT1:NM_001114620:exon2:c.G668A:p.R223Q,MGAT1:NM_002406:exon2:c.G668A:p.R223Q,MGAT1:NM_001114617:exon3:c.G668A:p.R223Q,MGAT1:NM_001114618:exon3:c.G668A:p.R223Q RS7726005 Serum creatinine:Chronic kidney disease:Urinary albumin-to-creatinine ratio:Gene expression of [probe 4040300 centered at chr5:180144743] in blood:Gene expression of MGAT1 in blood:Comorbid depressive syndrome and alcohol dependence:PROP taste detection threshold
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?
5 180651231 1 TRIM41 G A exonic nonsynonymous SNV TRIM41:NM_033549:exon1:c.G232A:p.A78T,TRIM41:NM_201627:exon1:c.G232A:p.A78T
6 350829 2 DUSP22 G A exonic synonymous SNV DUSP22:NM_020185:exon8:c.G516A:p.P172P
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 1313241 1 FOXQ1 G A exonic nonsynonymous SNV FOXQ1:NM_033260:exon1:c.G302A:p.G101D
6 2955802 1 SERPINB6 T C exonic nonsynonymous SNV SERPINB6:NM_001271822:exon3:c.A310G:p.M104V,SERPINB6:NM_001271823:exon3:c.A325G:p.M109V,SERPINB6:NM_001271824:exon3:c.A268G:p.M90V,SERPINB6:NM_001271825:exon3:c.A268G:p.M90V,SERPINB6:NM_001297699:exon3:c.A268G:p.M90V,SERPINB6:NM_001297700:exon3:c.A268G:p.M90V,SERPINB6:NM_004568:exon3:c.A268G:p.M90V,SERPINB6:NM_001195291:exon4:c.A280G:p.M94V RS2295769 Total cholesterol:HDL cholesterol change with statins:Neuroblastoma (brain cancer):Gene expression of SERPINB6 in blood:Gene expression of NQO2 in blood:Gene expression of AL133351.34 in blood:Bipolar disorder:Parkinson's disease
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 3010390 2 NQO2 C T exonic nonsynonymous SNV NQO2:NM_000904:exon3:c.C139T:p.L47F,NQO2:NM_001290222:exon3:c.C139T:p.L47F,NQO2:NM_001318940:exon3:c.C139T:p.L47F,NQO2:NM_001290221:exon6:c.C139T:p.L47F RS1143684 Gene expression of NQO2 in JPT lymphoblastoid cell lines:Gene expression of NQO2 [probe 203814_s_at] in lymphoblastoid cell lines:Differential exon level expression of NQO2 [probe 2892312] in peripheral blood mononuclear cells:Gene expression of NQO2 [probe 2892277] in peripheral blood mononuclear cells:Gene expression of NQO2 in Lymphoblastoid cell lines:Gene expression of NQO2 in T cells:Gene expression of NQO2 in CD4+ lymphocytes:Height:Gene expression of NQO2 [probeset 203814_s_at] in sputum:Bipolar disorder:College completion:Obesity with early age of onset (age >2)
6 3015790 1 NQO2 A G exonic synonymous SNV NQO2:NM_000904:exon5:c.A330G:p.P110P,NQO2:NM_001318940:exon5:c.A330G:p.P110P,NQO2:NM_001290221:exon8:c.A330G:p.P110P RS1049115 Gene expression of NQO2 (ENSG00000124588) in dendritic cells treated with Mycobacterium tuberculosis
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 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 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 4135758 1 ECI2 G A exonic nonsynonymous SNV ECI2:NM_206836:exon1:c.C37T:p.R13C
6 4998963 2 RPP40 A G exonic synonymous SNV RPP40:NM_001286132:exon4:c.T477C:p.A159A,RPP40:NM_006638:exon5:c.T546C:p.A182A RS1749144 Sporadic Creutzfeldt-Jakob disease:Adiponectin levels
6 5086070 2 PPP1R3G A G exonic synonymous SNV PPP1R3G:NM_001145115:exon1:c.A351G:p.A117A
6 5086211 2 PPP1R3G G C exonic synonymous SNV PPP1R3G:NM_001145115:exon1:c.G492C:p.L164L
6 5086695 1 PPP1R3G C T exonic nonsynonymous SNV PPP1R3G:NM_001145115:exon1:c.C976T:p.H326Y
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 7229619 1 RREB1 G A exonic synonymous SNV RREB1:NM_001003698:exon10:c.G1287A:p.A429A,RREB1:NM_001003699:exon10:c.G1287A:p.A429A,RREB1:NM_001003700:exon10:c.G1287A:p.A429A,RREB1:NM_001168344:exon10:c.G1287A:p.A429A
6 7230680 1 RREB1 G T exonic nonsynonymous SNV RREB1:NM_001003698:exon10:c.G2348T:p.G783V,RREB1:NM_001003699:exon10:c.G2348T:p.G783V,RREB1:NM_001003700:exon10:c.G2348T:p.G783V,RREB1:NM_001168344:exon10:c.G2348T:p.G783V
6 7247248 2 RREB1 T C exonic nonsynonymous SNV RREB1:NM_001003698:exon11:c.T4400C:p.L1467P,RREB1:NM_001168344:exon11:c.T4400C:p.L1467P,RREB1:NM_001003699:exon12:c.T4565C:p.L1522P RS2256596 Childhood acute lymphoblastic leukemia:LDL cholesterol:Height:Bipolar disorder:Variant Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (geographic atrophy):Gene expression of RREB1 (probeID ILMN_2415267) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of RREB1 (probeID ILMN_2415267) in cerebellum in Alzheimer's disease cases and controls
6 7247344 1 RREB1 C A exonic nonsynonymous SNV RREB1:NM_001003698:exon11:c.C4496A:p.S1499Y,RREB1:NM_001168344:exon11:c.C4496A:p.S1499Y,RREB1:NM_001003699:exon12:c.C4661A:p.S1554Y
6 7310259 1 SSR1 A G exonic nonsynonymous SNV SSR1:NM_001292008:exon2:c.T83C:p.L28S,SSR1:NM_003144:exon2:c.T83C:p.L28S RS10004 Cystatin C in serum:T-cell recognition in leukemia patients (minor histocompatibility antigens):Comorbid depressive syndrome and alcohol dependence:Gene expression of RREB1 (probeID ILMN_2415267) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of RREB1 (probeID ILMN_2415267) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of RREB1 (probeID ILMN_2415267) in cerebellum in Alzheimer's disease cases:Gene expression of RREB1 (probeID ILMN_2415267) in cerebellum in Alzheimer's disease cases and controls:Gene expression of RREB1 (probeID ILMN_2415267) in temporal cortex in Alzheimer's disease cases:Gene expression of RREB1 (probeID ILMN_2415267) in cerebellum in non-Alzheimer's disease samples:Gene expression of RREB1 (probeID ILMN_2415267) in temporal cortex in Progressive Supranuclear Palsy cases
6 7393452 1 RIOK1 C T exonic synonymous SNV RIOK1:NM_031480:exon2:c.C192T:p.D64D RS2274212 Adiponectin levels
6 7572262 1 DSP A G exonic synonymous SNV DSP:NM_001008844:exon15:c.A2091G:p.G697G,DSP:NM_001319034:exon15:c.A2091G:p.G697G,DSP:NM_004415:exon15:c.A2091G:p.G697G
6 7581636 1 DSP G A exonic nonsynonymous SNV DSP:NM_004415:exon23:c.G5213A:p.R1738Q RS6929069 Parkinson's disease (PD):Premature ovarian failure:HOMA-B:Fasting insulin:HOMA-IR:Lp-PLA2 mass:Years of education
6 7584149 1 DSP C T exonic synonymous SNV DSP:NM_001008844:exon24:c.C4857T:p.T1619T,DSP:NM_001319034:exon24:c.C5325T:p.T1775T,DSP:NM_004415:exon24:c.C6654T:p.T2218T
6 7585967 1 DSP G C exonic synonymous SNV DSP:NM_001008844:exon24:c.G6675C:p.G2225G,DSP:NM_001319034:exon24:c.G7143C:p.G2381G,DSP:NM_004415:exon24:c.G8472C:p.G2824G
6 7601720 1 SNRNP48 C T exonic synonymous SNV SNRNP48:NM_152551:exon5:c.C558T:p.S186S RS3734586 Years of education
6 10085674 2
6 10530036 1 GCNT2 G A exonic nonsynonymous SNV GCNT2:NM_145649:exon3:c.G892A:p.E298K
6 10989942 1 ELOVL2 G A exonic synonymous SNV ELOVL2:NM_017770:exon7:c.C759T:p.Y253Y RS12195587 Triglycerides change with statins:Plasma docosapentaenoic acid levels
6 11005686 1 ELOVL2 G A exonic synonymous SNV ELOVL2:NM_017770:exon3:c.C174T:p.N58N RS2295601 Plasma eicosapentaenoic acid levels:Plasma docosapentaenoic acid levels:Plasma docosahexaenoic acid levels:Obesity with early age of onset (age >2)
6 11185533 1 NEDD9 G A exonic synonymous SNV NEDD9:NM_001271033:exon6:c.C1920T:p.T640T,NEDD9:NM_006403:exon7:c.C2367T:p.T789T,NEDD9:NM_001142393:exon8:c.C2367T:p.T789T RS1050775 2 hour glucose:Cystatin C in serum:Total cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Parkinson's disease:Obesity with early age of onset (age >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 12164612 1 HIVEP1 C G exonic nonsynonymous SNV HIVEP1:NM_002114:exon9:c.C8075G:p.A2692G RS1042054 Fasting blood glucose:HOMA-IR:Cystatin C in serum:Salmonella-induced pyroptosis
6 13711279 2 RANBP9 A G exonic synonymous SNV RANBP9:NM_005493:exon1:c.T459C:p.R153R
6 15496662 1 JARID2 C T exonic synonymous SNV JARID2:NM_001267040:exon7:c.C690T:p.P230P,JARID2:NM_004973:exon7:c.C1206T:p.P402P RS742099 Systolic blood pressure (SBP):Diastolic blood pressure (DBP)
6 15513482 2 JARID2 G A exonic synonymous SNV JARID2:NM_001267040:exon16:c.G2763A:p.L921L,JARID2:NM_004973:exon16:c.G3279A:p.L1093L RS2235258 Triglycerides:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
6 16306751 1 ATXN1 G A exonic nonsynonymous SNV ATXN1:NM_001128164:exon8:c.C2257T:p.P753S,ATXN1:NM_000332:exon9:c.C2257T:p.P753S RS16885 Gene expression of ATXN1 [probe 203231_s_at] in lymphoblastoid cell lines:HDL cholesterol:Triglycerides:Fasting blood glucose:Gene expression of ATXN1 [probeset 203231_s_at] in sputum:Comorbid depressive syndrome and alcohol dependence:Obesity with early age of onset (age >2):Parkinson's disease:Advanced age-related macular degeneration (geographic atrophy)
6 16327330 1 ATXN1 T C exonic synonymous SNV ATXN1:NM_001128164:exon7:c.A1212G:p.E404E,ATXN1:NM_000332:exon8:c.A1212G:p.E404E RS2075974 Systolic blood pressure (SBP)
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 17543302 2 CAP2 A G exonic synonymous SNV CAP2:NM_006366:exon11:c.A1137G:p.K379K RS9256 Infant head circumference
6 17629616 2 NUP153 G A exonic synonymous SNV NUP153:NM_001278210:exon17:c.C2688T:p.S896S,NUP153:NM_005124:exon18:c.C2814T:p.S938S,NUP153:NM_001278209:exon19:c.C2907T:p.S969S RS942467 Diabetic retinopathy in Type 2 diabetes mellitus
6 17633033 1 NUP153 G C exonic nonsynonymous SNV NUP153:NM_001278210:exon16:c.C2381G:p.S794C,NUP153:NM_005124:exon17:c.C2507G:p.S836C,NUP153:NM_001278209:exon18:c.C2600G:p.S867C
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 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 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 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 18256625 1 DEK A G exonic nonsynonymous SNV DEK:NM_001134709:exon4:c.T317C:p.V106A,DEK:NM_003472:exon5:c.T419C:p.V140A RS17336208 Triglycerides change with statins
6 24075862 2
6 24291203 2 DCDC2 T C exonic nonsynonymous SNV DCDC2:NM_016356:exon5:c.A661G:p.S221G,DCDC2:NM_001195610:exon6:c.A661G:p.S221G RS2274305 Spine bone mineral density (BMD):Irritible bowel syndrome:Serum creatinine:Triglycerides:HDL cholesterol:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Aortic valve calcium:Aspirin-exacerbated respiratory disease:Percent decrease of forced expiratory volume (FEV) for 1 month after aspirin challenge
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 24698215 1 ACOT13 G A exonic synonymous SNV ACOT13:NM_018473:exon2:c.G186A:p.T62T,ACOT13:NM_001160094:exon3:c.G117A:p.T39T RS7765904 Fasting blood glucose:HDL cholesterol
6 26056549 1 HIST1H1C A G exonic synonymous SNV HIST1H1C:NM_005319:exon1:c.T108C:p.S36S RS10425 Uric acid:LDL cholesterol:Triglycerides change with statins:Cystatin C in serum:Autism:Height:Urinary albumin-to-creatinine ratio:Serum urate:Gene expression of HIST1H4C (probeID ILMN_2075334) in cerebellum in Alzheimer's disease cases and controls:Gene expression of HIST1H4C (probeID ILMN_2075334) in temporal cortex in Alzheimer's disease cases and controls:Coronary artery disease (CAD):Serum urate:Gene expression of HIST1H2AC (ENSG00000180573) in dendritic cells:Mean corpuscular hemoglobin concentration (MCHC)
6 26056604 1 HIST1H1C G A exonic nonsynonymous SNV HIST1H1C:NM_005319:exon1:c.C53T:p.A18V RS2230653 Cystatin C in serum:Height:Diabetic retinopathy in Type 2 diabetes mellitus:Infant head circumference
6 26124634 1 HIST1H2AC C T exonic synonymous SNV HIST1H2AC:NM_003512:exon1:c.C174T:p.Y58Y
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 26598684 1 ABT1 A G exonic synonymous SNV ABT1:NM_013375:exon3:c.A630G:p.T210T
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 28294550 1 ZSCAN31 T C exonic nonsynonymous SNV ZSCAN31:NM_001243243:exon3:c.A137G:p.K46R,ZSCAN31:NM_001243244:exon3:c.A137G:p.K46R,ZSCAN31:NM_001135216:exon4:c.A614G:p.K205R,ZSCAN31:NM_001243241:exon4:c.A614G:p.K205R,ZSCAN31:NM_001243242:exon4:c.A137G:p.K46R,ZSCAN31:NM_030899:exon4:c.A614G:p.K205R,ZSCAN31:NM_001135215:exon8:c.A614G:p.K205R,ZSCAN31:NM_145909:exon8:c.A614G:p.K205R RS853684 LDL cholesterol:2 hour glucose:Lp-PLA2 activity:Rheumatoid arthritis:Methylation levels at chr6:28429280-28429330 [hg18 coord, probe cg21750589] in Caudal pons:Gene expression of ZNF323 in Cerebellum:Gene expression of ZNF323 in Temporal cortex:Gene expression of ZNF323 in Frontal cortex:Gene expression:Gene expression of ZNF165 [probe ILMN_8007] in untreated osteoblasts:Gene expression of ZSCAN16 in liver:Gene expression of ZNF187 in blood:Gene expression of ZNF193 in blood:Gene expression of [probe 2120082 centered at chr6:28245177] in blood:Gene expression of AL022393.1 in blood:Gene expression of ZNF323 (probeID ILMN_1655748) in cerebellum in non-Alzheimer's disease samples:Gene expression of ZNF323 (probeID ILMN_2377991) in cerebellum in non-Alzheimer's disease samples:Gene expression of ZNF323 (probeID ILMN_2377991) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of ZNF323 (probeID ILMN_1655748) in cerebellum in Alzheimer's disease cases:Gene expression of ZNF323 (probeID ILMN_2377991) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ZNF323 (probeID ILMN_1655748) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ZNF323 (probeID ILMN_1655748) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of ZNF323 (probeID ILMN_1655748) in temporal cortex in Alzheimer's disease cases:HIV-1 infection (natural long-term nonprogression):Gene expression of ZNF323 (probeID ILMN_2377991) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of ZNF323 (probeID ILMN_1655748) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ZSCAN23 in normal prepouch ileum:Gene expression of ZNF323 (probeID ILMN_1655748) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of ZNF323 (probeID ILMN_2377991) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ZNF323 (probeID ILMN_2377991) in temporal cortex in Alzheimer's disease cases:College completion:Obesity with early age of onset (age >2):Gene expression of ZNF323 (probeID ILMN_2377991) in cerebellum in Alzheimer's disease cases
6 28359170 1 ZSCAN12 A G exonic synonymous SNV ZSCAN12:NM_001163391:exon4:c.T897C:p.D299D RS2859348 Gene expression of ZNF323 (probeID ILMN_2377991) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ZNF323 (probeID ILMN_1655748) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ZNF323 (probeID ILMN_1655748) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ZNF323 (probeID ILMN_2377991) in cerebellum in Alzheimer's disease cases and controls:Obesity with early age of onset (age >2)
6 29523676 1 UBD C G exonic nonsynonymous SNV UBD:NM_006398:exon2:c.G479C:p.C160S RS8337 Height:Advanced age-related macular degeneration
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 29910358 2 HLA-A C G exonic nonsynonymous SNV HLA-A:NM_001242758:exon1:c.C28G:p.L10V,HLA-A:NM_002116:exon1:c.C28G:p.L10V
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 29910538 1 HLA-A C T exonic synonymous SNV HLA-A:NM_001242758:exon2:c.C78T:p.S26S,HLA-A:NM_002116:exon2:c.C78T:p.S26S
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 29911114 2 HLA-A G A exonic nonsynonymous SNV HLA-A:NM_001242758:exon3:c.G413A:p.R138Q,HLA-A:NM_002116:exon3:c.G413A:p.R138Q
6 29911119 2 HLA-A G T exonic nonsynonymous SNV HLA-A:NM_001242758:exon3:c.G418T:p.D140Y,HLA-A:NM_002116:exon3:c.G418T:p.D140Y
6 29911154 2 HLA-A C A exonic nonsynonymous SNV HLA-A:NM_001242758:exon3:c.C453A:p.N151K,HLA-A:NM_002116:exon3:c.C453A:p.N151K
6 29911228 2 HLA-A A C exonic nonsynonymous SNV HLA-A:NM_001242758:exon3:c.A527C:p.E176A,HLA-A:NM_002116:exon3:c.A527C:p.E176A
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 29911951 2 HLA-A C T exonic synonymous SNV HLA-A:NM_001242758:exon4:c.C672T:p.T224T,HLA-A:NM_002116:exon4:c.C672T:p.T224T
6 29911957 2 HLA-A G A exonic synonymous SNV HLA-A:NM_001242758:exon4:c.G678A:p.R226R,HLA-A:NM_002116:exon4:c.G678A:p.R226R
6 29912098 1 HLA-A G A exonic synonymous SNV HLA-A:NM_001242758:exon4:c.G819A:p.V273V,HLA-A:NM_002116:exon4:c.G819A:p.V273V
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 29912368 2 HLA-A C T exonic synonymous SNV HLA-A:NM_001242758:exon5:c.C987T:p.A329A,HLA-A:NM_002116:exon5:c.C987T:p.A329A
6 29912386 1 HLA-A G C exonic nonsynonymous SNV HLA-A:NM_001242758:exon5:c.G1005C:p.K335N,HLA-A:NM_002116:exon5:c.G1005C:p.K335N
6 30121525 1 TRIM10 G A exonic synonymous SNV TRIM10:NM_052828:exon8:c.C1128T:p.D376D RS12210298 Total cholesterol:Adiponectin levels:Mean corpuscular hemoglobin concentration (MCHC)
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 30128442 1 TRIM10 C T exonic nonsynonymous SNV TRIM10:NM_006778:exon1:c.G194A:p.R65H,TRIM10:NM_052828:exon1:c.G194A:p.R65H RS12212092 Eye color:Triglycerides:Simpson-Angus Scale:HOMA-IR:Fasting insulin:Partial epilepsy:Suicide attempts in bipolar disorder:Suicide attempts in mood disorder patients:Gene expression of TRIM10 in blood
6 30131503 1 TRIM15 T C exonic synonymous SNV TRIM15:NM_033229:exon1:c.T42C:p.P14P
6 30131546 1 TRIM15 A G exonic nonsynonymous SNV TRIM15:NM_033229:exon1:c.A85G:p.I29V
6 30134987 1 TRIM15 C T exonic nonsynonymous SNV TRIM15:NM_033229:exon2:c.C416T:p.T139M
6 30139699 1 TRIM15 G A exonic nonsynonymous SNV TRIM15:NM_033229:exon7:c.G971A:p.S324N RS929156 Rheumatoid arthritis:Multiple sclerosis:Multiple sclerosis (females):Late onset Alzheimer's disease:Rheumatoid arthritis:Alzheimer's disease:HDL cholesterol change with statins:Rheumatoid arthritis:Late onset Alzheimer's disease:Late onset Alzheimer's disease:Gene expression of TRIM26 in blood:Gene expression of TRIM10 in blood:Gene expression of TPD52L2 in blood:Gene expression of NDUFS1 in blood:Gene expression of KIT in blood:Infant head circumference
6 30154049 1 TRIM26 G A exonic synonymous SNV TRIM26:NM_001242783:exon9:c.C1224T:p.D408D,TRIM26:NM_003449:exon10:c.C1224T:p.D408D RS16897204 Chronic kidney disease:Rheumatoid arthritis:Adiponectin levels
6 30154199 1 TRIM26 T C exonic synonymous SNV TRIM26:NM_001242783:exon9:c.A1074G:p.L358L,TRIM26:NM_003449:exon10:c.A1074G:p.L358L RS2074473 LDL cholesterol:Serum creatinine:Rheumatoid arthritis:Total cholesterol:LDL cholesterol
6 30297505 1 TRIM39;TRIM39-RPP21 C T exonic synonymous SNV TRIM39-RPP21:NM_001199119:exon1:c.C411T:p.A137A,TRIM39:NM_021253:exon3:c.C411T:p.A137A,TRIM39:NM_172016:exon3:c.C411T:p.A137A RS1264581 Schizophrenia:Rheumatoid arthritis:LDL cholesterol:Cystatin C in serum:Triglycerides:Gene expression of TRIM10 in blood:Variant Creutzfeldt-Jakob disease
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 30313340 1 RPP21;TRIM39-RPP21 G C exonic nonsynonymous SNV RPP21:NM_001199120:exon3:c.G255C:p.Q85H,RPP21:NM_001199121:exon3:c.G231C:p.Q77H,RPP21:NM_024839:exon3:c.G231C:p.Q77H,TRIM39-RPP21:NM_001199119:exon8:c.G1278C:p.Q426H
6 30457732 2 HLA-E T C exonic synonymous SNV HLA-E:NM_005516:exon2:c.T294C:p.N98N
6 30458064 2 HLA-E G A exonic nonsynonymous SNV HLA-E:NM_005516:exon3:c.G382A:p.G128R
6 30459056 1 HLA-E C T exonic synonymous SNV HLA-E:NM_005516:exon4:c.C753T:p.L251L
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 30619221 1 C6orf136 C T exonic nonsynonymous SNV C6orf136:NM_145029:exon3:c.C340T:p.R114C,C6orf136:NM_001109938:exon4:c.C742T:p.R248C,C6orf136:NM_001161376:exon4:c.C1285T:p.R429C
6 30627867 1 DHX16 T C exonic nonsynonymous SNV DHX16:NM_001164239:exon10:c.A1517G:p.D506G,DHX16:NM_003587:exon10:c.A1697G:p.D566G RS9262138 Rheumatoid arthritis:Abnormal Involuntary Movement Scale:Simpson-Angus Scale:Serum creatinine:Rheumatoid arthritis:Gene expression of HLA-A29.1 in peripheral blood monocytes:Gene expression of KCNN4 in peripheral blood monocytes:Gene expression of KIT in peripheral blood monocytes:Neuroblastoma (brain cancer):Systolic blood pressure (SBP)
6 30671650 1 MDC1 A G exonic synonymous SNV MDC1:NM_014641:exon10:c.T5310C:p.I1770I
6 30711805 2 IER3 C G exonic nonsynonymous SNV IER3:NM_003897:exon2:c.G379C:p.A127P RS3094124 LDL cholesterol:Cystatin C in serum:Rheumatoid arthritis:Total cholesterol:Parkinson's disease:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
6 30857072 1 DDR1 G C exonic synonymous SNV DDR1:NM_001202521:exon3:c.G282C:p.L94L,DDR1:NM_001202522:exon3:c.G282C:p.L94L,DDR1:NM_013994:exon3:c.G282C:p.L94L,DDR1:NM_001202523:exon4:c.G336C:p.L112L,DDR1:NM_001297652:exon4:c.G282C:p.L94L,DDR1:NM_001297653:exon4:c.G282C:p.L94L,DDR1:NM_001297654:exon4:c.G282C:p.L94L,DDR1:NM_013993:exon5:c.G282C:p.L94L,DDR1:NM_001954:exon6:c.G282C:p.L94L RS2229933 HIV-1 control (viral load at set point):Rheumatoid arthritis:Total cholesterol:HDL cholesterol:Advanced age-related macular degeneration
6 30858857 1 DDR1 C T exonic synonymous SNV DDR1:NM_001202521:exon4:c.C525T:p.S175S,DDR1:NM_001202522:exon4:c.C525T:p.S175S,DDR1:NM_013994:exon4:c.C525T:p.S175S,DDR1:NM_001202523:exon5:c.C579T:p.S193S,DDR1:NM_001297652:exon5:c.C525T:p.S175S,DDR1:NM_001297653:exon5:c.C525T:p.S175S,DDR1:NM_001297654:exon5:c.C525T:p.S175S,DDR1:NM_013993:exon6:c.C525T:p.S175S,DDR1:NM_001954:exon7:c.C525T:p.S175S RS1049622 Rheumatoid arthritis:HIV-1 control:Advanced age-related macular degeneration
6 30864829 1 DDR1 T C exonic synonymous SNV DDR1:NM_001202522:exon11:c.T1470C:p.V490V,DDR1:NM_001202523:exon13:c.T1851C:p.V617V,DDR1:NM_001297652:exon13:c.T1797C:p.V599V,DDR1:NM_001297653:exon13:c.T1797C:p.V599V,DDR1:NM_013994:exon13:c.T1908C:p.V636V,DDR1:NM_001297654:exon14:c.T1908C:p.V636V,DDR1:NM_001954:exon15:c.T1797C:p.V599V,DDR1:NM_013993:exon15:c.T1908C:p.V636V RS1049623 Psoriasis and/or psoriatic arthritis:Psoriasis only (no arthritis):Psoriatic arthritis:Tardive dyskinesia:HIV-1 control (viral load at set point):Rheumatoid arthritis:Idiopathic membranous nephropathy:Gene expression of FLOT1///IER3 in blood:Gene expression of VARSL in blood:Gene expression of AL662797.7 in blood:Gene expression of FLOT1 in blood:Bipolar disorder:Age at death with kuru exposure:Advanced age-related macular degeneration:Aortic valve calcium:Gene expression of VARS2 in normal prepouch ileum:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
6 30865204 1 DDR1 A C exonic synonymous SNV DDR1:NM_001202522:exon12:c.A1608C:p.P536P,DDR1:NM_001202523:exon14:c.A1989C:p.P663P,DDR1:NM_001297652:exon14:c.A1935C:p.P645P,DDR1:NM_001297653:exon14:c.A1935C:p.P645P,DDR1:NM_013994:exon14:c.A2064C:p.P688P,DDR1:NM_001297654:exon15:c.A2046C:p.P682P,DDR1:NM_001954:exon16:c.A1935C:p.P645P,DDR1:NM_013993:exon16:c.A2046C:p.P682P RS2267641 Rheumatoid arthritis:Total cholesterol:HDL cholesterol:Height
6 30877760 1 GTF2H4 A C exonic synonymous SNV GTF2H4:NM_001517:exon4:c.A294C:p.T98T
6 30882203 2 VARS2 T C exonic synonymous SNV VARS2:NM_001167734:exon1:c.T15C:p.A5A
6 30882634 1 VARS2 C T exonic synonymous SNV VARS2:NM_001167734:exon2:c.C111T:p.A37A,VARS2:NM_020442:exon2:c.C21T:p.A7A RS1264302 Rheumatoid arthritis:Gene expression of VARS2 [probe 226200_at] in lymphoblastoid cell lines:Schizophrenia:Rheumatoid arthritis:Gene expression of VARSL [probe ILMN_5892] in osteoblasts:Total cholesterol:Rheumatoid arthritis:Total cholesterol:Triglycerides:LDL cholesterol:Gene expression of VARS2 in CD4+ lymphocytes:Height:Gene expression of VARSL in blood:Comorbid depressive syndrome and alcohol dependence:Bipolar disorder:Age at death with kuru exposure:Primary rhegmatogenous retinal detachment:Gene expression of VARS2 in normal prepouch ileum:Advanced age-related macular degeneration (geographic atrophy)
6 30882781 1 VARS2 G T exonic synonymous SNV VARS2:NM_001167734:exon2:c.G258T:p.A86A,VARS2:NM_020442:exon2:c.G168T:p.A56A RS1264301 Total cholesterol:LDL cholesterol:Comorbid depressive syndrome and alcohol dependence:Gene expression of VARS2 in normal prepouch ileum
6 30887972 1 VARS2 C T exonic synonymous SNV VARS2:NM_001167733:exon12:c.C852T:p.S284S,VARS2:NM_001167734:exon13:c.C1362T:p.S454S,VARS2:NM_020442:exon13:c.C1272T:p.S424S RS2285319 Rheumatoid arthritis:HIV-1 control:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
6 30888161 2 VARS2 T C exonic nonsynonymous SNV VARS2:NM_001167733:exon13:c.T925C:p.W309R,VARS2:NM_001167734:exon14:c.T1435C:p.W479R,VARS2:NM_020442:exon14:c.T1345C:p.W449R RS2249464 Total cholesterol:LDL cholesterol:Rheumatoid arthritis:HDL cholesterol:LDL cholesterol:Triglycerides:Total cholesterol:Height:Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Gene expression of VARS2 in normal prepouch ileum:Coronary artery disease (CAD)
6 30888169 1 VARS2 G A exonic synonymous SNV VARS2:NM_001167733:exon13:c.G933A:p.L311L,VARS2:NM_001167734:exon14:c.G1443A:p.L481L,VARS2:NM_020442:exon14:c.G1353A:p.L451L RS2517468 Total cholesterol:LDL cholesterol:Comorbid depressive syndrome and alcohol dependence:Gene expression of VARS2 in normal prepouch ileum
6 30889389 1 VARS2 T C exonic synonymous SNV VARS2:NM_001167733:exon17:c.T1236C:p.V412V,VARS2:NM_001167734:exon18:c.T1746C:p.V582V,VARS2:NM_020442:exon18:c.T1656C:p.V552V RS2074511 HIV-1 control (viral load at set point):Rheumatoid arthritis:HIV-1 control:Gene expression of GTF2H4 in normal prepouch ileum
6 30892322 1 VARS2 C T exonic synonymous SNV VARS2:NM_001167733:exon25:c.C2238T:p.P746P,VARS2:NM_001167734:exon26:c.C2748T:p.P916P,VARS2:NM_020442:exon26:c.C2658T:p.P886P RS2532942 Gene expression of VARS2 [probe 226200_at] in lymphoblastoid cell lines:Total cholesterol:Serum creatinine:Rheumatoid arthritis:Total cholesterol:Triglycerides:LDL cholesterol:Height:Comorbid depressive syndrome and alcohol dependence:Gene expression of VARS2 in normal prepouch ileum:Advanced age-related macular degeneration (geographic atrophy)
6 30893127 1 VARS2 G A exonic nonsynonymous SNV VARS2:NM_001167733:exon26:c.G2330A:p.R777Q,VARS2:NM_001167734:exon27:c.G2840A:p.R947Q,VARS2:NM_020442:exon27:c.G2750A:p.R917Q RS9394021 Rheumatoid arthritis:Total cholesterol:HDL cholesterol:Height:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
6 30893428 1 VARS2 G A exonic nonsynonymous SNV VARS2:NM_001167733:exon27:c.G2473A:p.A825T,VARS2:NM_001167734:exon28:c.G2983A:p.A995T,VARS2:NM_020442:exon28:c.G2893A:p.A965T
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 31110391 1 CCHCR1 G C exonic nonsynonymous SNV CCHCR1:NM_001105563:exon18:c.C2486G:p.S829C,CCHCR1:NM_001105564:exon18:c.C2594G:p.S865C,CCHCR1:NM_019052:exon18:c.C2327G:p.S776C RS1576 Gene expression of HLA-C [probe 216526_x_at] in lymphoblastoid cell lines:Serum creatinine:Rheumatoid arthritis:LDL cholesterol:Height:Grade 2 nevirapine-induced rash in HIV-1 patients:Grade 4 nevirapine-induced rash in HIV-1 patients:Grade 1 nevirapine-induced rash in HIV-1 patients:Grade 3 nevirapine-induced rash in HIV-1 patients:Nevirapine-induced rash in HIV-1 patients:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Advanced age-related macular degeneration (geographic atrophy):Coronary artery disease (CAD):Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
6 31113030 2 CCHCR1 A G exonic synonymous SNV CCHCR1:NM_001105563:exon13:c.T1681C:p.L561L,CCHCR1:NM_001105564:exon13:c.T1789C:p.L597L,CCHCR1:NM_019052:exon13:c.T1522C:p.L508L
6 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 31116210 1 CCHCR1 G A exonic synonymous SNV CCHCR1:NM_001105563:exon10:c.C1444T:p.L482L,CCHCR1:NM_001105564:exon10:c.C1552T:p.L518L,CCHCR1:NM_019052:exon10:c.C1285T:p.L429L
6 31116246 2 CCHCR1 G A exonic nonsynonymous SNV CCHCR1:NM_001105563:exon10:c.C1408T:p.R470W,CCHCR1:NM_001105564:exon10:c.C1516T:p.R506W,CCHCR1:NM_019052:exon10:c.C1249T:p.R417W
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 31125257 1 CCHCR1 C A exonic stopgain CCHCR1:NM_001105563:exon1:c.G121T:p.E41X,CCHCR1:NM_001105564:exon1:c.G121T:p.E41X
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 31129707 1 TCF19 C T exonic nonsynonymous SNV TCF19:NM_001077511:exon3:c.C722T:p.P241L,TCF19:NM_007109:exon3:c.C722T:p.P241L,TCF19:NM_001318908:exon4:c.C722T:p.P241L RS2073724 Type 1 diabetes, combined control dataset:Triglycerides:Gene expression of TCF19 [probe 2902178] in peripheral blood mononuclear cells:Rheumatoid arthritis:HIV-1 control (viral load at set point):LDL cholesterol:Lp-PLA2 mass:Rheumatoid arthritis:Gene expression of HLA-DQB1 in peripheral blood monocytes:Gene expression of HLA-C in peripheral blood monocytes:Gene expression of NCOA1 in peripheral blood monocytes:Gene expression of VARS2 in peripheral blood monocytes:Exceptional Longevity:LDL cholesterol:Triglycerides:Total cholesterol:Asthma:Height:Nevirapine-induced rash in HIV-1 patients:Gene expression of HCG27 in blood:Gene expression of VARSL in blood:Gene expression of [probe 7150630 centered at chr6:31344573] in blood:Gene expression of TMEM154 in blood:Sporadic Creutzfeldt-Jakob disease:Gene expression of HLA-C (probeID ILMN_1721113) in whole blood:Gene expression of HCG27 (probeID ILMN_1746436) in temporal cortex in Alzheimer's disease cases:Coronary artery disease (CAD):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
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 31238053 2 HLA-C G C exonic nonsynonymous SNV HLA-C:NM_001243042:exon4:c.C829G:p.Q277E,HLA-C:NM_002117:exon4:c.C829G:p.Q277E RS707908 Lp-PLA2 activity:Sarcoidosis
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 31238230 2 HLA-C G T exonic nonsynonymous SNV HLA-C:NM_001243042:exon4:c.C652A:p.L218I,HLA-C:NM_002117:exon4:c.C652A:p.L218I RS1050716 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 31239050 1 HLA-C G A exonic nonsynonymous SNV HLA-C:NM_001243042:exon3:c.C419T:p.S140F,HLA-C:NM_002117:exon3:c.C419T:p.S140F
6 31239057 1 HLA-C C T exonic nonsynonymous SNV HLA-C:NM_001243042:exon3:c.G412A:p.D138N,HLA-C:NM_002117:exon3:c.G412A:p.D138N
6 31239407 2 HLA-C G T exonic nonsynonymous SNV HLA-C:NM_001243042:exon2:c.C312A:p.N104K,HLA-C:NM_002117:exon2:c.C312A:p.N104K
6 31239417 2 HLA-C C T exonic nonsynonymous SNV HLA-C:NM_001243042:exon2:c.G302A:p.S101N,HLA-C:NM_002117:exon2:c.G302A:p.S101N RS2308557 Sarcoidosis
6 31239501 1 HLA-C G T exonic nonsynonymous SNV HLA-C:NM_001243042:exon2:c.C218A:p.A73E,HLA-C:NM_002117:exon2:c.C218A:p.A73E
6 31239518 2 HLA-C C T exonic synonymous SNV HLA-C:NM_001243042:exon2:c.G201A:p.P67P,HLA-C:NM_002117:exon2:c.G201A:p.P67P
6 31239577 2 HLA-C A C exonic nonsynonymous SNV HLA-C:NM_001243042:exon2:c.T142G:p.S48A,HLA-C:NM_002117:exon2:c.T142G:p.S48A
6 31239622 2 HLA-C C A exonic nonsynonymous SNV HLA-C:NM_001243042:exon2:c.G97T:p.D33Y,HLA-C:NM_002117:exon2:c.G97T:p.D33Y
6 31322911 2 HLA-B C T exonic nonsynonymous SNV HLA-B:NM_005514:exon5:c.G985A:p.A329T
6 31323215 1 HLA-B T C exonic synonymous SNV HLA-B:NM_005514:exon4:c.A774G:p.R258R
6 31323233 1 HLA-B A G exonic synonymous SNV HLA-B:NM_005514:exon4:c.T756C:p.T252T
6 31323296 2 HLA-B A G exonic synonymous SNV HLA-B:NM_005514:exon4:c.T693C:p.G231G
6 31324024 1 HLA-B C T exonic nonsynonymous SNV HLA-B:NM_005514:exon3:c.G539A:p.R180Q
6 31324036 1 HLA-B T G exonic nonsynonymous SNV HLA-B:NM_005514:exon3:c.A527C:p.E176A
6 31324104 1 HLA-B G A exonic synonymous SNV HLA-B:NM_005514:exon3:c.C459T:p.D153D
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 31378358 1 MICA T G exonic nonsynonymous SNV MICA:NM_000247:exon2:c.T109G:p.W37G,MICA:NM_001177519:exon2:c.T109G:p.W37G
6 31378425 1 MICA A G exonic nonsynonymous SNV MICA:NM_000247:exon2:c.A176G:p.Y59C,MICA:NM_001177519:exon2:c.A176G:p.Y59C
6 31378956 1 MICA C G exonic nonsynonymous SNV MICA:NM_000247:exon3:c.C433G:p.L145V,MICA:NM_001177519:exon3:c.C433G:p.L145V,MICA:NM_001289152:exon3:c.C142G:p.L48V,MICA:NM_001289153:exon3:c.C142G:p.L48V RS1051790 2 hour glucose:HDL cholesterol:Rheumatoid arthritis:HDL cholesterol:Systolic blood pressure (SBP)
6 31378977 1 MICA G A exonic nonsynonymous SNV MICA:NM_000247:exon3:c.G454A:p.V152M,MICA:NM_001177519:exon3:c.G454A:p.V152M,MICA:NM_001289152:exon3:c.G163A:p.V55M,MICA:NM_001289153:exon3:c.G163A:p.V55M RS1051792 Gene expression of LOC282956 in CEU-CHB-JPT lymphoblastoid cell lines:LDL cholesterol:Rheumatoid arthritis:HDL cholesterol:Total cholesterol:LDL cholesterol:Height
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 31379115 1 MICA G A exonic nonsynonymous SNV MICA:NM_000247:exon3:c.G592A:p.G198S,MICA:NM_001177519:exon3:c.G592A:p.G198S,MICA:NM_001289152:exon3:c.G301A:p.G101S,MICA:NM_001289153:exon3:c.G301A:p.G101S,MICA:NM_001289154:exon3:c.G178A:p.G60S RS1131896 Psoriasis and/or psoriatic arthritis:Psoriasis only (no arthritis):Psoriatic arthritis:LDL cholesterol:HDL cholesterol:Triglycerides:LDL cholesterol:Gene expression of MICA in CD4+ lymphocytes:Height:Gene expression of HCG27 in blood:Gene expression of LST1///NCR3 in blood:Gene expression of AL645933.8 in blood:Gene expression of HLA-B in blood
6 31379931 2 MICA G A exonic nonsynonymous SNV MICA:NM_000247:exon4:c.G821A:p.R274Q,MICA:NM_001177519:exon4:c.G821A:p.R274Q,MICA:NM_001289152:exon4:c.G530A:p.R177Q,MICA:NM_001289153:exon4:c.G530A:p.R177Q,MICA:NM_001289154:exon4:c.G407A:p.R136Q RS1063635 Type 1 diabetes, Rheumatoid arthritis, combined case analysis:Gene expression of LOC282956 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of probe 1557242_at in lymphoblastoid cell lines:Gene expression of LOC285835 [probe 230937_at] in lymphoblastoid cell lines:Gene expression of D83543 in liver:Irritible bowel syndrome:Rheumatoid arthritis:LDL cholesterol:Total cholesterol:HDL cholesterol:Height:Body mass index (BMI)
6 31380194 1 MICA T C exonic nonsynonymous SNV MICA:NM_001177519:exon5:c.T985C:p.C329R,MICA:NM_001289152:exon5:c.T694C:p.C232R,MICA:NM_001289153:exon5:c.T694C:p.C232R,MICA:NM_001289154:exon5:c.T571C:p.C191R
6 31380198 1 MICA C T exonic nonsynonymous SNV MICA:NM_001177519:exon5:c.C989T:p.P330L,MICA:NM_001289152:exon5:c.C698T:p.P233L,MICA:NM_001289153:exon5:c.C698T:p.P233L,MICA:NM_001289154:exon5:c.C575T:p.P192L,MICA:NM_000247:exon6:c.C985T:p.R329C
6 31382882 1 MICA C A exonic nonsynonymous SNV MICA:NM_000247:exon7:c.C1118A:p.A373D RS9266825 Gene expression of LOC282956 in CHB lymphoblastoid cell lines:Gene expression of LOC285835 [probe 230937_at] in lymphoblastoid cell lines:LDL cholesterol:Rheumatoid arthritis:HIV-1 disease progression:HIV-1 control (viral load at set point):Rheumatoid arthritis:HDL cholesterol:Total cholesterol:LDL cholesterol:Height:Body mass index (BMI):HIV-1 control
6 31382911 2 MICA A G exonic nonsynonymous SNV MICA:NM_000247:exon7:c.A1147G:p.T383A RS1882 Total cholesterol:HDL cholesterol:LDL cholesterol:Total cholesterol:HDL cholesterol:Height
6 31473546 1 MICB A G exonic nonsynonymous SNV MICB:NM_001289160:exon2:c.A127G:p.N43D,MICB:NM_001289161:exon2:c.A223G:p.N75D,MICB:NM_005931:exon2:c.A223G:p.N75D
6 31477681 1 MICB A G exonic nonsynonymous SNV MICB:NM_001289160:exon6:c.A1051G:p.T351A,MICB:NM_001289161:exon6:c.A1018G:p.T340A,MICB:NM_005931:exon6:c.A1147G:p.T383A
6 31506624 2 DDX39B T C exonic synonymous SNV DDX39B:NM_004640:exon4:c.A348G:p.V116V,DDX39B:NM_080598:exon4:c.A348G:p.V116V RS1129640 Gene expression of CCHCR1 [probe 209698_at] in lymphoblastoid cell lines:Gene expression of HCG22 [probe 1560767_at] in lymphoblastoid cell lines:Gene expression of CCHCR1 in lymphoblastoid cell lines:Gene expression of HCG22 in lymphoblastoid cell lines:Total cholesterol:Triglycerides:LDL cholesterol:Height:Body mass index (BMI):Gene expression of AIF1 (ENSG00000204472) in dendritic cells:Advanced age-related macular degeneration:Cervical cancer:Advanced age-related macular degeneration (geographic atrophy)
6 31525912 2 NFKBIL1 C T exonic nonsynonymous SNV NFKBIL1:NM_001144961:exon4:c.C625T:p.R209C,NFKBIL1:NM_001144962:exon4:c.C601T:p.R201C,NFKBIL1:NM_001144963:exon4:c.C556T:p.R186C,NFKBIL1:NM_005007:exon4:c.C670T:p.R224C RS3130062 Rheumatoid arthritis:Total cholesterol:Triglycerides:LDL cholesterol:Height:Body mass index (BMI):Infant head circumference:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
6 31594628 2 PRRC2A T A exonic synonymous SNV PRRC2A:NM_004638:exon10:c.T1062A:p.G354G,PRRC2A:NM_080686:exon10:c.T1062A:p.G354G RS3130071 LDL cholesterol:Total cholesterol:Rheumatoid arthritis:Total cholesterol:Triglycerides:LDL cholesterol:Asthma:Height:Waist hip ratio:Body mass index (BMI):Advanced age-related macular degeneration:Gene expression of HLA-DRB5 in normal prepouch ileum
6 31595882 2 PRRC2A C A exonic nonsynonymous SNV PRRC2A:NM_004638:exon12:c.C1631A:p.T544K,PRRC2A:NM_080686:exon12:c.C1631A:p.T544K RS1046080 Gene expression of HLA-DQA1 [probe 203290_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe 209480_at] in lymphoblastoid cell lines:Differential splicing of CSNK2B [probeset 2902572] in lymphoblastoid cell lines:LDL cholesterol:Total cholesterol:LDL cholesterol:Rheumatoid arthritis:Gene expression of HCG27 in peripheral blood monocytes:Gene expression of MICA in peripheral blood monocytes:Gene expression of HSPA1L in peripheral blood monocytes:Gene expression of HLA-DRB1 in peripheral blood monocytes:Gene expression of HLA-F in peripheral blood monocytes:Gene expression of HLA-DRB5 in peripheral blood monocytes:LDL cholesterol:Triglycerides:Total cholesterol:Height:Rheumatoid arthritis (ACPA-positive):Systolic blood pressure (SBP):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration (geographic atrophy):Infant head circumference:Lupus anticoagulant:Advanced age-related macular degeneration
6 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 31733759 1 VWA7 G A exonic synonymous SNV VWA7:NM_025258:exon16:c.C2400T:p.S800S
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 31838713 1 SLC44A4 G A exonic synonymous SNV SLC44A4:NM_001178044:exon9:c.C687T:p.Y229Y,SLC44A4:NM_001178045:exon10:c.C585T:p.Y195Y,SLC44A4:NM_025257:exon10:c.C813T:p.Y271Y RS494620 Rheumatoid arthritis:Irritible bowel syndrome:Age at menopause:Rheumatoid arthritis:Fasting insulin:HOMA-IR:Rheumatoid arthritis:Methylation levels at chr6:31954925-31954975 [hg18 coord, probe cg07363637] in Temporal cortex:Alopecia areata:Total cholesterol:Triglycerides:LDL cholesterol:Height:Waist hip ratio:Idiopathic membranous nephropathy:Late onset Alzheimer's disease:AIF1 gene expression in subcutaneous adipose tissue:Gene expression of BAT2 in blood:Gene expression of [probe 6280471 centered at chr6:31885634] in blood:Gene expression of HSPA1B in blood:Gene expression of LSM2 in blood:Gene expression of C6orf48///SNORD52 in blood:Gene expression of TMEM154 in blood:Systolic blood pressure (SBP):Resistance to kuru in aged women despite likely exposure:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration (geographic atrophy):Pemphigus vulgaris:Aortic valve calcium
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 31914179 1 CFB C T exonic nonsynonymous SNV CFB:NM_001710:exon2:c.C94T:p.R32W RS12614 Nonobstructive azoospermia
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 31918080 1 CFB C T exonic synonymous SNV CFB:NM_001710:exon12:c.C1524T:p.H508H
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 31931747 1 SKIV2L G A exonic nonsynonymous SNV SKIV2L:NM_006929:exon16:c.G1705A:p.V569M
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 32097220 1 FKBPL T C exonic nonsynonymous SNV FKBPL:NM_022110:exon2:c.A338G:p.H113R
6 32122386 2 PPT2 C G exonic nonsynonymous SNV PPT2:NM_001204103:exon2:c.C15G:p.C5W,PPT2:NM_005155:exon2:c.C15G:p.C5W,PPT2:NM_138717:exon2:c.C33G:p.C11W
6 32151994 2 AGER A T exonic synonymous SNV AGER:NM_001136:exon1:c.T6A:p.A2A,AGER:NM_001206929:exon1:c.T6A:p.A2A,AGER:NM_001206932:exon1:c.T6A:p.A2A,AGER:NM_001206934:exon1:c.T6A:p.A2A,AGER:NM_001206936:exon1:c.T6A:p.A2A,AGER:NM_001206940:exon1:c.T6A:p.A2A,AGER:NM_001206954:exon1:c.T6A:p.A2A,AGER:NM_001206966:exon1:c.T6A:p.A2A,AGER:NM_172197:exon1:c.T6A:p.A2A RS1800684 Gene expression of HLA-DQA1 [probe 213831_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe 212999_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe 209823_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe 209480_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB1 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB2 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB3 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB4 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB5 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of LOC100133484 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of LOC100133661 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of LOC100133811 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of LOC730415 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of RNASE2 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of ZNF749 [probe 204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB1 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB2 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB3 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB4 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB5 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of LOC100133484 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of LOC100133661 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of LOC100133811 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of LOC730415 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of RNASE2 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of ZNF749 [probe 209312_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 [probe 211654_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB6 [probe 217362_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQA1 [probe 236203_at] in lymphoblastoid cell lines:Gene expression of HLA-DQA1 probe[213831_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 probe[212999_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 probe[209823_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB1 probe[204670_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB1 probe[209312_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 probe[209480_at] in lymphoblastoid cell lines:Gene expression of HLA-DQB1 probe[211654_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB6 probe[217362_x_at] in lymphoblastoid cell lines:Gene expression of HLA-DQA1 probe[236203_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB1 probe[238900_at] in lymphoblastoid cell lines:Gene expression of HLA-DRB3 probe[238900_at] in lymphoblastoid cell lines:LDL cholesterol:Total cholesterol:Rheumatoid arthritis:Total cholesterol:Triglycerides:Height:Body mass index (BMI):Alzheimer's disease:Plasma docosapentaenoic acid levels:Coronary artery disease (CAD):Advanced age-related macular degeneration:Gene expression of HLA-DRB5 in normal prepouch ileum:Gene expression of HLA-DQB1 in normal prepouch ileum:Parkinson's disease:College completion
6 32157639 1 PBX2 C T exonic synonymous SNV PBX2:NM_002586:exon1:c.G54A:p.L18L RS169503 Cystatin C in serum:Rheumatoid arthritis:LDL cholesterol:Waist hip ratio
6 32796653 1 TAP2 C A exonic unknown UNKNOWN RS241449 LDL cholesterol:Abnormal Involuntary Movement Scale:HIV-1 control (viral load at set point):Rheumatoid arthritis:Gene expression of TAP2 in Cerebellum:Gene expression of TAP2 in Temporal cortex:Gene expression of TAP2 in Frontal cortex:Total cholesterol:HDL cholesterol:Height:Body mass index (BMI):Comorbid depressive syndrome and alcohol dependence:Gene expression of TAP2 (probeID ILMN_1777565) in cerebellum in Alzheimer's disease cases and controls:Gene expression of TAP2 (probeID ILMN_1759250) in cerebellum in Alzheimer's disease cases and controls:Gene expression of HLA-DOB (probeID ILMN_1700428) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TAP2 (probeID ILMN_1759250) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TAP2 (probeID ILMN_1777565) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of HLA-DOB (probeID ILMN_1700428) in cerebellum in Alzheimer's disease cases and controls
6 32796685 1 TAP2 A G exonic stoploss TAP2:NM_001290043:exon12:c.T2059C:p.X687Q RS241448 Type 1 diabetes:Gene expression of TAP2 [probe 225973_at] in lymphoblastoid cell lines:Gene expression of TAP2 [probe 204769_s_at] in lymphoblastoid cell lines:Gene expression of TAP2 [probe 204770_at] in lymphoblastoid cell lines:Gene expression of TAP2 [probe 208428_at] in lymphoblastoid cell lines:Stabilized warfarin dose:Irritible bowel syndrome:LDL cholesterol:Schizophrenia:Differential exon level expression of TAP2 [probe 2950168] in peripheral blood mononuclear cells:Differential exon level expression of TAP2 [probe 2950174] in brain cortex:Differential exon level expression of TAP2 [probe 2950174] in peripheral blood mononuclear cells:Rheumatoid arthritis:Premature ovarian failure:HIV-1 control (viral load at set point):Rheumatoid arthritis:Gene expression of TAP2 in Cerebellum:Gene expression of TAP2 in Frontal cortex:Gene expression of TAP2 in Temporal cortex:Cardiac neonatal lupus:HDL cholesterol:Total cholesterol:LDL cholesterol:Gene expression of HLA-DOB in CD4+ lymphocytes:Gene expression of TAP2 in CD4+ lymphocytes:Height:Gene expression of HLA-DRB1 in blood:Gene expression of [probe 1190754 centered at chr6:32731975] in blood:Gene expression of HLA-DOB in blood:Gene expression of TAP2 in blood:Gene expression of TAP2 [probeset 208428_at] in sputum:Gene expression of TAP2 [probeset 204769_s_at] in sputum:Comorbid depressive syndrome and alcohol dependence
6 32796751 1 TAP2 T C exonic nonsynonymous SNV TAP2:NM_001290043:exon12:c.A1993G:p.T665A RS241447 Type 1 diabetes:Gene expression of TAP2 [probe 208428_at] in lymphoblastoid cell lines:Gene expression of TAP2 [probe 204769_s_at] in lymphoblastoid cell lines:Gene expression of TAP2 [probe 225973_at] in lymphoblastoid cell lines:Gene expression of TAP2 [probe 204770_at] in lymphoblastoid cell lines:Irritible bowel syndrome:LDL cholesterol:Schizophrenia:Differential exon level expression of TAP2 [probe 2950174] in brain cortex:Differential exon level expression of TAP2 [probe 2950168] in peripheral blood mononuclear cells:Differential exon level expression of TAP2 [probe 2950174] in peripheral blood mononuclear cells:Premature ovarian failure:HIV-1 control (viral load at set point):Rheumatoid arthritis:Gene expression of TAP2 in Temporal cortex:Gene expression of TAP2 in Frontal cortex:Gene expression of TAP2 in Cerebellum:HDL cholesterol:Total cholesterol:LDL cholesterol:Gene expression of HLA-DOB in CD4+ lymphocytes:Gene expression of TAP2 in CD4+ lymphocytes:Height:Gene expression of HLA-DRB1 in blood:Gene expression of [probe 1190754 centered at chr6:32731975] in blood:Gene expression of TAP2 in blood:Gene expression of HLA-DOB in blood:Gene expression of TAP2 [probeset 208428_at] in sputum:Gene expression of TAP2 [probeset 204769_s_at] in sputum:Comorbid depressive syndrome and alcohol dependence
6 32800224 2 TAP2 C A exonic synonymous SNV TAP2:NM_001290043:exon7:c.G1158T:p.G386G,TAP2:NM_018833:exon7:c.G1158T:p.G386G RS2228397 Type 1 diabetes:Eye color:Triglycerides:Rheumatoid arthritis:Autism:Triglycerides:Neuroblastoma (brain cancer)
6 32942302 1 BRD2 G A exonic synonymous SNV BRD2:NM_001199455:exon2:c.G93A:p.K31K,BRD2:NM_001113182:exon3:c.G93A:p.K31K,BRD2:NM_005104:exon3:c.G93A:p.K31K RS516535 Rheumatoid arthritis:Parkinson's disease:Diabetic retinopathy in Type 2 diabetes mellitus
6 32946133 1 BRD2 T C exonic synonymous SNV BRD2:NM_001199455:exon9:c.T1809C:p.S603S,BRD2:NM_001199456:exon9:c.T1668C:p.S556S,BRD2:NM_001113182:exon10:c.T1809C:p.S603S,BRD2:NM_005104:exon10:c.T1809C:p.S603S,BRD2:NM_001291986:exon11:c.T1449C:p.S483S RS206781 Rheumatoid arthritis:Gene expression of HLA-DMB in peripheral blood monocytes:Gene expression of HLA-DQB1 in peripheral blood monocytes:Gene expression of HLA-DMA in peripheral blood monocytes
6 33163451 2 RXRB G A exonic synonymous SNV RXRB:NM_001291989:exon6:c.C582T:p.F194F,RXRB:NM_001270401:exon7:c.C1152T:p.F384F,RXRB:NM_021976:exon7:c.C1152T:p.F384F RS6531 Type 1 diabetes, gender differentiated:Gene expression of HLA-DPB2 [probe 239975_at] in lymphoblastoid cell lines:LDL cholesterol:2 hour glucose:LDL cholesterol change with statins:Total cholesterol change with statins:Rheumatoid arthritis:Gene expression of HLA-DPB1 in peripheral blood monocytes:Gene expression of HSD17B8 in peripheral blood monocytes:Gene expression of HLA-DPA1 in peripheral blood monocytes:Gene expression of DAXX in blood:Gene expression of HSD17B8 in blood:Gene expression of HLA-DPB1 in blood:Gene expression of PHF1///CUTA in blood:Sporadic Creutzfeldt-Jakob disease:Gene expression of HLA-DPB2 (probeID ILMN_2205405) in cerebellum in non-Alzheimer's disease samples:Gene expression of RXRB in normal prepouch ileum:Gene expression of HLA-DPB2 (probeID ILMN_2205405) in cerebellum in Alzheimer's disease cases and controls:Gene expression of HLA-DPB2 (probeID ILMN_2205405) in cerebellum in Alzheimer's disease cases:Gene expression of HLA-DPB2 (probeID ILMN_2205405) in cerebellum in Progressive Supranuclear Palsy cases
6 33235755 1 VPS52 G A exonic synonymous SNV VPS52:NM_001289174:exon8:c.C619T:p.L207L,VPS52:NM_001289175:exon9:c.C445T:p.L149L,VPS52:NM_001289176:exon9:c.C445T:p.L149L,VPS52:NM_022553:exon9:c.C820T:p.L274L RS213199 Rheumatoid arthritis:Eye color:Differential splicing of TAPBP [probeset 2950643] in lymphoblastoid cell lines:Schizophrenia:Rheumatoid arthritis:2 hour glucose:HOMA-B:Fasting blood glucose:Rheumatoid arthritis:Gene expression of RPS18 in peripheral blood monocytes:Gene expression of TUT1 in peripheral blood monocytes:Gene expression of TAPBP in peripheral blood monocytes:Gene expression of HLA-DPB1 in peripheral blood monocytes:Triglycerides:HDL cholesterol:Gene expression of HSD17B8 in blood:Gene expression of B3GALT4///WDR46 in blood:Gene expression of HLA-DPB1 in blood:Gene expression of TAPBP in blood:Resistance to kuru in aged women despite likely exposure:Variant Creutzfeldt-Jakob disease:Crohn's disease:Coronary artery disease (CAD)
6 33272855 1 TAPBP G C exonic nonsynonymous SNV TAPBP:NM_172209:exon3:c.C518G:p.T173R,TAPBP:NM_003190:exon4:c.C779G:p.T260R,TAPBP:NM_172208:exon4:c.C779G:p.T260R RS2071888 LDL cholesterol:2 hour glucose:Fasting blood glucose:Rheumatoid arthritis:Gene expression of TAPBP in peripheral blood monocytes:Gene expression of B3GALT4 in peripheral blood monocytes:Gene expression of HLA-DOA in peripheral blood monocytes:LDL cholesterol:Total cholesterol:Triglycerides:Rheumatoid arthritis (ACPA-positive)
6 33283766 1 ZBTB22 T C exonic nonsynonymous SNV ZBTB22:NM_001145338:exon2:c.A928G:p.T310A,ZBTB22:NM_005453:exon2:c.A928G:p.T310A RS3130100 Rheumatoid arthritis:LDL cholesterol:Rheumatoid arthritis:2 hour glucose:Fasting blood glucose:HOMA-B:Rheumatoid arthritis:Triglycerides:Neuroblastoma (brain cancer):Rheumatoid arthritis (ACPA-positive):Gene expression of [probe 3940296 centered at chr6:33379606] in blood:Gene expression of TAPBP in blood:Gene expression of B3GALT4///WDR46 in blood:Gene expression of HLA-DPB1 in blood:Coronary artery disease (CAD):Birth weight:Crohn's disease
6 33288271 1 DAXX A G exonic synonymous SNV DAXX:NM_001254717:exon3:c.T912C:p.Y304Y,DAXX:NM_001141969:exon4:c.T1137C:p.Y379Y,DAXX:NM_001141970:exon4:c.T1173C:p.Y391Y,DAXX:NM_001350:exon4:c.T1137C:p.Y379Y RS1059231 LDL cholesterol:2 hour glucose:HOMA-B:HOMA-IR:Fasting insulin:Rheumatoid arthritis:Autism with high IQ:Triglycerides:Gene expression change of DAXX (ENSG00000204209) in dendritic cells after treatment with Mycobacterium tuberculosis
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 33638180 1 ITPR3 C T exonic synonymous SNV ITPR3:NM_002224:exon19:c.C2268T:p.G756G RS2229634 Systemic lupus erythematosus (SLE):Irritible bowel syndrome:Triglycerides:Rheumatoid arthritis:Height:Suicide attempts in bipolar disorder:Gene expression of ITPR3 in blood:Years of education
6 33641379 1 ITPR3 T C exonic synonymous SNV ITPR3:NM_002224:exon23:c.T2940C:p.N980N RS1803831 Systemic lupus erythematosus (SLE):Triglycerides:Birth weight
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 33653486 1 ITPR3 G A exonic nonsynonymous SNV ITPR3:NM_002224:exon41:c.G5549A:p.R1850Q RS12528378 Breast cancer
6 33659472 1 ITPR3 C G exonic nonsynonymous SNV ITPR3:NM_002224:exon53:c.C7306G:p.L2436V RS2229642 Fasting blood glucose:Rheumatoid arthritis:Height:Obesity (body mass index (BMI)):Body mass index (BMI):College completion:Years of education
6 34214322 1 SMIM29 C G exonic nonsynonymous SNV SMIM29:NM_001287397:exon4:c.G389C:p.G130A,SMIM29:NM_001287398:exon4:c.G389C:p.G130A,SMIM29:NM_001008703:exon5:c.G449C:p.G150A,SMIM29:NM_001008704:exon5:c.G449C:p.G150A,SMIM29:NM_001287396:exon5:c.G449C:p.G150A,SMIM29:NM_178508:exon5:c.G449C:p.G150A RS1150781 Triglycerides change with statins:Height:Height (adults):Height (adult females):Height (adult males):Height:Birth weight
6 34826301 1 UHRF1BP1 C T exonic nonsynonymous SNV UHRF1BP1:NM_017754:exon14:c.C2168T:p.P723L
6 34949607 2 ANKS1A C T exonic synonymous SNV ANKS1A:NM_015245:exon4:c.C576T:p.Y192Y RS2293242 HOMA-B:Fasting insulin:HOMA-IR
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 35391787 2 PPARD C T exonic synonymous SNV PPARD:NM_001171820:exon4:c.C195T:p.N65N,PPARD:NM_001171819:exon5:c.C372T:p.N124N,PPARD:NM_006238:exon6:c.C489T:p.N163N,PPARD:NM_177435:exon6:c.C489T:p.N163N,PPARD:NM_001171818:exon7:c.C489T:p.N163N RS2076167 Fasting insulin:HOMA-IR:HOMA-B:Total cholesterol:LDL cholesterol:Height:Urinary albumin-to-creatinine ratio:Microalbuminuria:Adiponectin levels
6 35423662 2 FANCE A C exonic synonymous SNV FANCE:NM_021922:exon2:c.A387C:p.P129P
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 37138220 1 PIM1 C G exonic nonsynonymous SNV PIM1:NM_001243186:exon1:c.C142G:p.H48D
6 37250112 2 TBC1D22B A G exonic synonymous SNV TBC1D22B:NM_017772:exon4:c.A573G:p.Q191Q RS195753 2 hour glucose:Total cholesterol:Rheumatoid arthritis:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
6 37252210 1 TBC1D22B C T exonic synonymous SNV TBC1D22B:NM_017772:exon6:c.C771T:p.N257N RS3818136 Total cholesterol:Triglycerides change with statins:Rheumatoid arthritis:Transmission distortion
6 37349033 1 RNF8 G A exonic synonymous SNV RNF8:NM_003958:exon7:c.G1344A:p.T448T RS2284922 Fasting blood glucose:Triglycerides change with statins:Chronic kidney disease:Serum creatinine:Gene expression of RNF8 in CD4+ lymphocytes:Sporadic Creutzfeldt-Jakob disease:Adiponectin levels:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Birth weight:Advanced age-related macular degeneration
6 38650628 1 GLO1 T G exonic nonsynonymous SNV GLO1:NM_006708:exon4:c.A332C:p.E111A RS4746 Gene expression of GLO1 in normal prepouch ileum:Years of education
6 39933339 2
6 40998141 2 UNC5CL G A exonic synonymous SNV UNC5CL:NM_173561:exon8:c.C1320T:p.C440C RS736795 Body mass index (BMI):Advanced age-related macular degeneration (geographic atrophy):Gene expression of APOBEC2 in normal prepouch ileum
6 41533579 1 FOXP4 C A exonic synonymous SNV FOXP4:NM_001012426:exon2:c.C81A:p.A27A,FOXP4:NM_001012427:exon2:c.C81A:p.A27A,FOXP4:NM_138457:exon2:c.C81A:p.A27A RS2104506 Cystatin C in serum:Rheumatoid arthritis:Adiponectin levels:Refractive error
6 41652514 1 TFEB C T exonic synonymous SNV TFEB:NM_001271943:exon8:c.G999A:p.A333A,TFEB:NM_001167827:exon9:c.G1296A:p.A432A,TFEB:NM_001271944:exon9:c.G1254A:p.A418A,TFEB:NM_001271945:exon9:c.G1254A:p.A418A,TFEB:NM_007162:exon10:c.G1254A:p.A418A
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 41895150 1 BYSL G A exonic nonsynonymous SNV BYSL:NM_004053:exon2:c.G307A:p.E103K RS2296916 Irritible bowel syndrome:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
6 41900406 1 BYSL C T exonic nonsynonymous SNV BYSL:NM_004053:exon7:c.C1276T:p.P426S RS3828855 Irritible bowel syndrome:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
6 42110171 1 C6orf132 C G exonic nonsynonymous SNV C6orf132:NM_001164446:exon1:c.G12C:p.K4N
6 42532102 2 UBR2 C T exonic synonymous SNV UBR2:NM_001184801:exon1:c.C45T:p.S15S,UBR2:NM_015255:exon1:c.C45T:p.S15S RS3749897 LDL cholesterol:Total cholesterol:Advanced age-related macular degeneration
6 42600319 2 UBR2 A G exonic synonymous SNV UBR2:NM_015255:exon12:c.A1311G:p.L437L RS5014584 Advanced age-related macular degeneration (geographic atrophy)
6 42627430 1 UBR2 C T exonic synonymous SNV UBR2:NM_015255:exon30:c.C3279T:p.G1093G
6 42627434 2 UBR2 G A exonic nonsynonymous SNV UBR2:NM_015255:exon30:c.G3283A:p.A1095T RS6917033 LDL cholesterol:Triglycerides:Rheumatoid arthritis:Late onset Alzheimer's disease:Systolic blood pressure (SBP):Gene expression of PRPH2 (probeID ILMN_1807610) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PRPH2 (probeID ILMN_1807610) in temporal cortex in Alzheimer's disease cases and controls:Salmonella-induced pyroptosis
6 42713618 2 TBCC A G exonic nonsynonymous SNV TBCC:NM_003192:exon1:c.T194C:p.V65A RS2234026 Total cholesterol:Infant head circumference:Aortic valve calcium
6 43014298 2 CUL7 T C exonic synonymous SNV CUL7:NM_001168370:exon11:c.A2691G:p.Q897Q,CUL7:NM_014780:exon11:c.A2439G:p.Q813Q
6 43014299 2 CUL7 T C exonic nonsynonymous SNV CUL7:NM_001168370:exon11:c.A2690G:p.Q897R,CUL7:NM_014780:exon11:c.A2438G:p.Q813R
6 43029288 1 KLC4 G A exonic nonsynonymous SNV KLC4:NM_001289034:exon2:c.G215A:p.R72H,KLC4:NM_001289035:exon2:c.G215A:p.R72H,KLC4:NM_138343:exon2:c.G215A:p.R72H,KLC4:NM_201521:exon2:c.G215A:p.R72H,KLC4:NM_201523:exon2:c.G269A:p.R90H,KLC4:NM_201522:exon3:c.G215A:p.R72H RS11558979 Birth weight
6 43039951 1 KLC4 T C exonic synonymous SNV KLC4:NM_001289035:exon11:c.T1215C:p.A405A,KLC4:NM_001289034:exon12:c.T1446C:p.A482A,KLC4:NM_201521:exon12:c.T1446C:p.A482A,KLC4:NM_201523:exon12:c.T1500C:p.A500A,KLC4:NM_201522:exon13:c.T1446C:p.A482A
6 43112267 1 PTK7 C T exonic nonsynonymous SNV PTK7:NM_152881:exon12:c.C1940T:p.A647V,PTK7:NM_152880:exon14:c.C2210T:p.A737V,PTK7:NM_152882:exon14:c.C2162T:p.A721V,PTK7:NM_001270398:exon15:c.C2354T:p.A785V,PTK7:NM_002821:exon15:c.C2330T:p.A777V
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 43270097 2 SLC22A7 T C exonic synonymous SNV SLC22A7:NM_006672:exon7:c.T1215C:p.A405A,SLC22A7:NM_153320:exon7:c.T1221C:p.A407A
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 43307861 1 ZNF318 G A exonic nonsynonymous SNV ZNF318:NM_014345:exon10:c.C3875T:p.T1292I RS10948072 Height:Gene expression of ZNF318 in blood:Systolic blood pressure (SBP):Comorbid depressive syndrome and alcohol dependence
6 43418691 1 DLK2 G A exonic synonymous SNV DLK2:NM_001286655:exon6:c.C627T:p.T209T,DLK2:NM_001286656:exon6:c.C720T:p.T240T,DLK2:NM_023932:exon6:c.C738T:p.T246T,DLK2:NM_206539:exon6:c.C738T:p.T246T RS1214748 Eye color:Gene expression of TJAP1 in CD4+ lymphocytes:Gene expression of DLK2 in CD4+ lymphocytes:Height:Urinary albumin-to-creatinine ratio:Gene expression of ABCC10///EGFL9 in blood
6 43418733 1 DLK2 G A exonic synonymous SNV DLK2:NM_001286655:exon6:c.C585T:p.H195H,DLK2:NM_001286656:exon6:c.C678T:p.H226H,DLK2:NM_023932:exon6:c.C696T:p.H232H,DLK2:NM_206539:exon6:c.C696T:p.H232H
6 43535018 1 XPO5 C T exonic nonsynonymous SNV XPO5:NM_020750:exon7:c.G722A:p.S241N RS34324334 Birth weight
6 44218120 2 HSP90AB1 A G exonic synonymous SNV HSP90AB1:NM_001271969:exon6:c.A741G:p.K247K,HSP90AB1:NM_001271970:exon6:c.A741G:p.K247K,HSP90AB1:NM_001271971:exon6:c.A597G:p.K199K,HSP90AB1:NM_001271972:exon6:c.A711G:p.K237K,HSP90AB1:NM_007355:exon6:c.A741G:p.K247K RS13296 Fasting insulin:Birth weight
6 44223010 2 SLC35B2 G T exonic synonymous SNV SLC35B2:NM_001286519:exon2:c.C333A:p.T111T,SLC35B2:NM_001286513:exon3:c.C453A:p.T151T,SLC35B2:NM_001286517:exon3:c.C417A:p.T139T,SLC35B2:NM_001286509:exon4:c.C717A:p.T239T,SLC35B2:NM_001286510:exon4:c.C717A:p.T239T,SLC35B2:NM_001286511:exon4:c.C585A:p.T195T,SLC35B2:NM_001286512:exon4:c.C585A:p.T195T,SLC35B2:NM_001286520:exon4:c.C333A:p.T111T,SLC35B2:NM_178148:exon4:c.C732A:p.T244T RS1875324 Gene expression of NFKBIE [probe 2955076] in brain cortex:Gene expression of SLC35B2///NFKBIE in blood:Primary rhegmatogenous retinal detachment:Gene expression change of LOC441151 (ENSG00000178233) in dendritic cells after treatment with Mycobacterium tuberculosis
6 44233216 1 NFKBIE G C exonic nonsynonymous SNV NFKBIE:NM_004556:exon1:c.C285G:p.H95Q
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 44413463 1 CDC5L T A exonic synonymous SNV CDC5L:NM_001253:exon15:c.T2163A:p.L721L RS2273666 Total cholesterol:Infant head circumference
6 46802370 2 MEP1A G A exonic synonymous SNV MEP1A:NM_005588:exon12:c.G1665A:p.T555T RS4714952 Cystatin C in serum:Acute lung injury following major trauma:Aortic valve calcium
6 46803102 1 MEP1A A G exonic nonsynonymous SNV MEP1A:NM_005588:exon13:c.A1900G:p.M634V RS2297019 Fasting blood glucose:Diabetic retinopathy in Type 2 diabetes mellitus:Acute lung injury following major trauma
6 47563692 2 CD2AP C T exonic synonymous SNV CD2AP:NM_012120:exon12:c.C1204T:p.L402L
6 47847179 2 PTCHD4 A G exonic synonymous SNV PTCHD4:NM_001013732:exon3:c.T1401C:p.V467V
6 47847401 2 PTCHD4 A G exonic synonymous SNV PTCHD4:NM_001013732:exon3:c.T1179C:p.A393A
6 48888074 2
6 49459978 2 CENPQ A G exonic nonsynonymous SNV CENPQ:NM_018132:exon9:c.A797G:p.D266G RS2501968 Spine bone mineral density (BMD):Gene expression of C6orf139 [probe ILMN_1747] in osteoblasts:HOMA-IR:Fasting insulin:HOMA-B:Gene expression of CENPQ in CD4+ lymphocytes:Neuroblastoma (brain cancer):Gene expression of C6orf139 [probe ILMN_1747] in untreated osteoblasts:Gene expression of C6orf139 [probe ILMN_1747] in osteoblasts treated with PGE2:Gene expression of C6orf139 [probe ILMN_1747] in osteoblasts treated with BMP2:Gene expression of C6orf139 [probe ILMN_1747] in osteoblasts treated with dexamethasone:Gene expression of CENPQ [transcript NM_018132, probe A_23_P70328] in liver:Gene expression of CENPQ [probeset 219294_at] in sputum:Gene expression of CENPQ in liver:Gene expression of CENPQ (probeID ILMN_1670769) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of CENPQ (probeID ILMN_1670769) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MUT in normal prepouch ileum:Gene expression of CENPQ (probeID ILMN_1670769) in temporal cortex in Progressive Supranuclear Palsy cases:Birth weight:Gene expression of CENPQ (probeID ILMN_1670769) in cerebellum in Alzheimer's disease cases:Gene expression of CENPQ (probeID ILMN_1670769) in temporal cortex in Alzheimer's disease cases:Gene expression of CENPQ (probeID ILMN_1670769) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CENPQ (probeID ILMN_1670769) in cerebellum in non-Alzheimer's disease samples
6 52129484 1 MCM3 C T exonic nonsynonymous SNV MCM3:NM_001270472:exon16:c.G2359A:p.E787K,MCM3:NM_002388:exon17:c.G2464A:p.E822K RS2230240 Triglycerides:LDL cholesterol:2 hour glucose:HOMA-B:Lp-PLA2 mass:HDL cholesterol:Gene expression of MCM3 in blood:Gene expression of PAQR8 in blood:Gene expression of MCM3 (ENSG00000112118) in dendritic cells treated with Mycobacterium tuberculosis:Tetrology of fallot:Gene expression change of MCM3 (ENSG00000112118) in dendritic cells after treatment with Mycobacterium tuberculosis
6 52658962 1 GSTA1 T C exonic synonymous SNV GSTA1:NM_001319059:exon4:c.A96G:p.K32K,GSTA1:NM_145740:exon5:c.A375G:p.K125K
6 53764649 1 LRRC1 C T exonic synonymous SNV LRRC1:NM_018214:exon8:c.C747T:p.V249V
6 56417282 1 DST C T exonic nonsynonymous SNV DST:NM_015548:exon42:c.G8439A:p.M2813I,DST:NM_183380:exon52:c.G9417A:p.M3139I,DST:NM_001144770:exon53:c.G9537A:p.M3179I,DST:NM_001144769:exon55:c.G9951A:p.M3317I RS4715630 Asthma:Waist hip ratio:Mitral annular calcium:Hypertension (early onset hypertension):Tetrology of fallot
6 56417545 1 DST T C exonic nonsynonymous SNV DST:NM_015548:exon42:c.A8176G:p.T2726A,DST:NM_183380:exon52:c.A9154G:p.T3052A,DST:NM_001144770:exon53:c.A9274G:p.T3092A,DST:NM_001144769:exon55:c.A9688G:p.T3230A RS4715631 Total cholesterol change with statins:Asthma:Diabetic retinopathy in Type 2 diabetes mellitus:Mitral annular calcium
6 56463410 2 DST T C exonic nonsynonymous SNV DST:NM_015548:exon27:c.A3923G:p.Q1308R,DST:NM_183380:exon37:c.A4901G:p.Q1634R,DST:NM_001144770:exon38:c.A5021G:p.Q1674R,DST:NM_001144769:exon40:c.A5435G:p.Q1812R RS4712138 Waist hip ratio:Infant head circumference:Adiponectin levels:Advanced age-related macular degeneration (geographic atrophy)
6 56484758 2 DST C T exonic synonymous SNV DST:NM_001723:exon23:c.G4074A:p.K1358K RS2230862 LDL cholesterol:Adiponectin levels:Advanced age-related macular degeneration
6 56917520 1 KIAA1586 T C exonic nonsynonymous SNV KIAA1586:NM_001286274:exon3:c.T142C:p.F48L,KIAA1586:NM_001286275:exon4:c.T22C:p.F8L,KIAA1586:NM_001286276:exon4:c.T22C:p.F8L,KIAA1586:NM_020931:exon4:c.T223C:p.F75L
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 71238105 2 FAM135A A G exonic nonsynonymous SNV FAM135A:NM_001331000:exon14:c.A3038G:p.D1013G,FAM135A:NM_001331005:exon14:c.A3626G:p.D1209G,FAM135A:NM_001330997:exon15:c.A3137G:p.D1046G,FAM135A:NM_001331001:exon15:c.A3137G:p.D1046G,FAM135A:NM_001331004:exon15:c.A2450G:p.D817G,FAM135A:NM_001351600:exon15:c.A3725G:p.D1242G,FAM135A:NM_020819:exon15:c.A3086G:p.D1029G,FAM135A:NM_001105531:exon16:c.A3137G:p.D1046G,FAM135A:NM_001162529:exon16:c.A3725G:p.D1242G,FAM135A:NM_001330996:exon16:c.A3803G:p.D1268G,FAM135A:NM_001331002:exon16:c.A3137G:p.D1046G,FAM135A:NM_001351599:exon16:c.A3803G:p.D1268G,FAM135A:NM_001351602:exon16:c.A3725G:p.D1242G,FAM135A:NM_001351608:exon16:c.A2879G:p.D960G,FAM135A:NM_001330995:exon17:c.A2465G:p.D822G,FAM135A:NM_001330998:exon17:c.A3215G:p.D1072G,FAM135A:NM_001330999:exon17:c.A3803G:p.D1268G,FAM135A:NM_001331003:exon17:c.A3215G:p.D1072G,FAM135A:NM_001351607:exon17:c.A3725G:p.D1242G,FAM135A:NM_001331006:exon18:c.A2543G:p.D848G,FAM135A:NM_001351609:exon18:c.A2285G:p.D762G RS2747701 Hip bone mineral density (BMD):LDL cholesterol:Triglycerides:Diastolic blood pressure (DBP):Salmonella-induced pyroptosis:Parkinson's disease
6 74190448 2 MTO1 T C exonic synonymous SNV MTO1:NM_001123226:exon7:c.T1180C:p.L394L,MTO1:NM_012123:exon7:c.T1180C:p.L394L,MTO1:NM_133645:exon8:c.T1255C:p.L419L RS2036039 Birth weight
6 74497009 2 CD109 A G exonic nonsynonymous SNV CD109:NM_001159588:exon20:c.A2159G:p.N720S,CD109:NM_001159587:exon21:c.A2390G:p.N797S,CD109:NM_133493:exon21:c.A2390G:p.N797S RS2351528 Partial epilepsy:Variant Creutzfeldt-Jakob disease:Q6YHK3 protein abundance levels:Adiponectin levels
6 76369054 2 SENP6 A G exonic synonymous SNV SENP6:NM_001100409:exon7:c.A606G:p.R202R,SENP6:NM_001304792:exon7:c.A606G:p.R202R,SENP6:NM_015571:exon8:c.A627G:p.R209R
6 79656562 2 PHIP A T exonic synonymous SNV PHIP:NM_017934:exon37:c.T4236A:p.A1412A RS2275291 HDL cholesterol change with statins:HDL cholesterol:Aortic valve calcium
6 79656570 2 PHIP G A exonic synonymous SNV PHIP:NM_017934:exon37:c.C4228T:p.L1410L RS2275290 Eye color:Arthritis including non-Rheumatoid:Differential exon level expression of PHIP [probe 2961826] in brain cortex:Differential exon level expression of PHIP [probe 2961826] in peripheral blood mononuclear cells:HDL cholesterol change with statins:HDL cholesterol:Waist hip ratio:Gene expression of PHIP in blood:Gene expression of RP11-173D14.1 in blood:Aortic valve calcium:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
6 79688366 2 PHIP T C exonic synonymous SNV PHIP:NM_017934:exon24:c.A2832G:p.T944T RS12209235 Fasting blood glucose:HDL cholesterol change with statins:Serum soluble transferrin receptor:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
6 86199233 2 NT5E A G exonic nonsynonymous SNV NT5E:NM_001204813:exon6:c.A1126G:p.T376A,NT5E:NM_002526:exon6:c.A1126G:p.T376A RS386586969 Comorbid depressive syndrome and alcohol dependence:College completion:Mitral annular calcium:Tetrology of fallot:Years of education:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Obesity with early age of onset (age >2):Prostate cancer
6 87965528 2 ZNF292 T C exonic synonymous SNV ZNF292:NM_015021:exon8:c.T2181C:p.C727C,ZNF292:NM_001351444:exon9:c.T1761C:p.C587C RS6908834 Gene expression of Hs.485895 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of C6orf162 [probe 213314_at] in lymphoblastoid cell lines:Nicotine dependence (smoking):Gene expression of C6orf162 (probeID ILMN_1693323) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of C6orf162 (probeID ILMN_1693323) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of C6orf162 (probeID ILMN_2413141) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C6orf162 (probeID ILMN_1693323) in cerebellum in non-Alzheimer's disease samples:Gene expression of C6orf162 (probeID ILMN_1693323) in cerebellum in Alzheimer's disease cases:Gene expression of C6orf162 (probeID ILMN_2413141) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of C6orf163 in normal prepouch ileum:Gene expression of C6orf162 (probeID ILMN_1693323) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C6orf162 (probeID ILMN_1693323) in temporal cortex in Alzheimer's disease cases:Gene expression of C6orf162 (probeID ILMN_1693323) in temporal cortex in Alzheimer's disease cases and controls
6 87968565 2 ZNF292 A G exonic nonsynonymous SNV ZNF292:NM_015021:exon8:c.A5218G:p.I1740V,ZNF292:NM_001351444:exon9:c.A4798G:p.I1600V RS9362415 Gene expression of Hs.485895 in CEU-CHB-JPT lymphoblastoid cell lines:Premature ovarian failure:Lp-PLA2 activity:Body mass index (BMI):Gene expression of C6orf162 (probeID ILMN_2413141) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of C6orf162 in normal prepouch ileum:Gene expression of C6orf162 (probeID ILMN_2413141) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of C6orf162 (probeID ILMN_1693323) in cerebellum in non-Alzheimer's disease samples:Gene expression of C6orf163 in normal prepouch ileum:Gene expression of C6orf162 (probeID ILMN_2413141) in cerebellum in Alzheimer's disease cases:Gene expression of C6orf162 (probeID ILMN_2413141) in cerebellum in non-Alzheimer's disease samples:Gene expression of C6orf162 (probeID ILMN_2413141) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C6orf162 (probeID ILMN_1693323) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C6orf162 (probeID ILMN_2413141) in temporal cortex in Alzheimer's disease cases:Gene expression of C6orf162 (probeID ILMN_1693323) in temporal cortex in Alzheimer's disease cases:Gene expression of C6orf162 (probeID ILMN_1693323) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of C6orf162 (probeID ILMN_1693323) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of C6orf162 (probeID ILMN_2413141) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of C6orf162 (probeID ILMN_1693323) in cerebellum in Alzheimer's disease cases:Gene expression of C6orf162 (probeID ILMN_1693323) in temporal cortex in Progressive Supranuclear Palsy cases
6 87969480 2 ZNF292 G A exonic nonsynonymous SNV ZNF292:NM_015021:exon8:c.G6133A:p.V2045I,ZNF292:NM_001351444:exon9:c.G5713A:p.V1905I RS6910541 Schizophrenia:HDL cholesterol:Height
6 87970301 2 ZNF292 C G exonic synonymous SNV ZNF292:NM_015021:exon8:c.C6954G:p.T2318T,ZNF292:NM_001351444:exon9:c.C6534G:p.T2178T RS3812132 Gene expression of C6orf162 (probeID ILMN_1693323) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of C6orf162 (probeID ILMN_2413141) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of C6orf162 (probeID ILMN_2413141) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C6orf162 (probeID ILMN_1693323) in cerebellum in Alzheimer's disease cases and controls
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 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 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 90482397 2 MDN1 T C exonic nonsynonymous SNV MDN1:NM_014611:exon14:c.A1978G:p.I660V RS12110451 HDL cholesterol:Triglycerides:Schizophrenia:HOMA-B:Serum creatinine:Chronic kidney disease:HDL cholesterol:Pulse pressure:Tetrology of fallot:Salmonella-induced pyroptosis:Tourette's syndrome
6 96999725 2 UFL1 C T exonic synonymous SNV UFL1:NM_015323:exon17:c.C1911T:p.D637D RS1127175 Systolic blood pressure (SBP)
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 99894086 2 USP45 C G exonic nonsynonymous SNV USP45:NM_001346024:exon12:c.G1388C:p.R463T,USP45:NM_001346025:exon12:c.G1385C:p.R462T,USP45:NM_001346028:exon13:c.G482C:p.R161T,USP45:NM_001080481:exon14:c.G1562C:p.R521T,USP45:NM_001346021:exon14:c.G1562C:p.R521T,USP45:NM_001346022:exon14:c.G1562C:p.R521T,USP45:NM_001346023:exon14:c.G1559C:p.R520T,USP45:NM_001346026:exon14:c.G1562C:p.R521T,USP45:NM_001346027:exon14:c.G482C:p.R161T,USP45:NM_001346029:exon14:c.G482C:p.R161T
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 101049748 2 ASCC3 C T exonic synonymous SNV ASCC3:NM_006828:exon34:c.G5241A:p.K1747K
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 101100745 2 ASCC3 C T exonic synonymous SNV ASCC3:NM_006828:exon18:c.G2844A:p.K948K
6 106200202 2
6 106987370 2 CRYBG1 A C exonic nonsynonymous SNV CRYBG1:NM_001624:exon7:c.A3587C:p.E1196A RS783396 Ischemic stroke:LDL cholesterol:Total cholesterol:LDL cholesterol:Gene expression of AIM1 in blood:Mitral annular calcium
6 106992464 2 CRYBG1 A G exonic synonymous SNV CRYBG1:NM_001624:exon10:c.A3834G:p.K1278K RS1799693 Mitral annular calcium
6 106999822 2 CRYBG1 G A exonic nonsynonymous SNV CRYBG1:NM_001624:exon12:c.G4184A:p.C1395Y RS2297970 Gene expression of QRSL1 in normal prepouch ileum:Gene expression of QRSL1 (probeID ILMN_1733364) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (geographic atrophy):Gene expression of QRSL1 (probeID ILMN_1733364) in cerebellum in Alzheimer's disease cases and controls
6 107113715 2 QRSL1 G A exonic synonymous SNV QRSL1:NM_018292:exon11:c.G1425A:p.L475L RS2015205 Gene expression of QRSL1 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of QRSL1 [probe 218948_at] in lymphoblastoid cell lines:Comorbid depressive syndrome and alcohol dependence:Gene expression of QRSL1 (probeID ILMN_1733364) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (geographic atrophy):Gene expression of QRSL1 in normal prepouch ileum:Gene expression of QRSL1 (probeID ILMN_1733364) in cerebellum in Alzheimer's disease cases and controls
6 107391396 2 BEND3 G A exonic synonymous SNV BEND3:NM_001080450:exon5:c.C999T:p.N333N RS3814073 LDL cholesterol:Recurrent early onset major depressive disorder (females):Recurrent early onset major depressive disorder (males):LDL cholesterol change with statins
6 111587266 2 MFSD4B T C exonic synonymous SNV MFSD4B:NM_153369:exon4:c.T501C:p.D167D RS11153279 Irritible bowel syndrome:Triglycerides change with statins:Chronic kidney disease:Refractive error
6 111587310 2 MFSD4B T A exonic stopgain MFSD4B:NM_153369:exon4:c.T545A:p.L182X
6 111587311 2 MFSD4B A T exonic nonsynonymous SNV MFSD4B:NM_153369:exon4:c.A546T:p.L182F
6 111695073 1 REV3L C T exonic synonymous SNV REV3L:NM_002912:exon14:c.G4485A:p.S1495S,REV3L:NM_001286432:exon15:c.G4251A:p.S1417S,REV3L:NM_001286431:exon16:c.G4251A:p.S1417S RS455645 Triglycerides change with statins:Birth weight:Infant head circumference
6 111695268 1 REV3L C T exonic synonymous SNV REV3L:NM_002912:exon14:c.G4290A:p.V1430V,REV3L:NM_001286432:exon15:c.G4056A:p.V1352V,REV3L:NM_001286431:exon16:c.G4056A:p.V1352V RS455732 HDL cholesterol:Triglycerides change with statins:Total cholesterol change with statins:HDL cholesterol:Serum Phe/Tyr:Birth weight:Serum Tyr/Val:Serum Ala/Tyr
6 111696852 1 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 116574455 1 TSPYL4 G A exonic synonymous SNV TSPYL4:NM_021648:exon1:c.C717T:p.H239H RS2232472 Triglycerides:Lung function, forced expiratory volume in 1 second (FEV1):HDL cholesterol change with statins:Serum creatinine:Total cholesterol:Triglycerides:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
6 116575083 1 TSPYL4 C A exonic nonsynonymous SNV TSPYL4:NM_021648:exon1:c.G89T:p.R30L RS2232470 Triglycerides:Lung function, forced expiratory volume in 1 second (FEV1):Total cholesterol:Serum creatinine:Lp-PLA2 activity:Triglycerides:Total cholesterol:LDL cholesterol:Adiponectin levels:Advanced age-related macular degeneration
6 116600774 1 TSPYL1 C G exonic nonsynonymous SNV TSPYL1:NM_003309:exon1:c.G220C:p.A74P RS3749895 Lung function, forced expiratory volume in 1 second (FEV1):HDL cholesterol change with statins:Total cholesterol:Triglycerides:Aortic valve calcium
6 116600810 1 TSPYL1 G A exonic nonsynonymous SNV TSPYL1:NM_003309:exon1:c.C184T:p.P62S RS3828743 Lung function, forced expiratory volume in 1 second (FEV1):HDL cholesterol change with statins:Serum creatinine:Total cholesterol:Triglycerides
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 119510941 2 MAN1A1 C A exonic synonymous SNV MAN1A1:NM_005907:exon10:c.G1434T:p.A478A RS2072890 Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Allele-specific Expression Patterns in human glioblastoma cell line U87MG
6 119760629 2
6 126249914 1 NCOA7 T G exonic nonsynonymous SNV NCOA7:NM_001199622:exon6:c.T657G:p.D219E,NCOA7:NM_001199621:exon15:c.T2481G:p.D827E,NCOA7:NM_001122842:exon16:c.T2793G:p.D931E,NCOA7:NM_181782:exon16:c.T2826G:p.D942E,NCOA7:NM_001199619:exon17:c.T2826G:p.D942E,NCOA7:NM_001199620:exon18:c.T2826G:p.D942E RS1567 Fasting insulin:HOMA-IR:Serum creatinine:Total cholesterol:LDL cholesterol:Triglycerides:Height:College completion
6 128388799 2 PTPRK G T exonic synonymous SNV PTPRK:NM_001291983:exon11:c.C1635A:p.L545L,PTPRK:NM_001135648:exon12:c.C2022A:p.L674L,PTPRK:NM_001291981:exon12:c.C2022A:p.L674L,PTPRK:NM_001291982:exon12:c.C2022A:p.L674L,PTPRK:NM_001291984:exon12:c.C2022A:p.L674L,PTPRK:NM_002844:exon12:c.C2022A:p.L674L
6 128403745 1 PTPRK A G exonic synonymous SNV PTPRK:NM_001291983:exon9:c.T1227C:p.V409V,PTPRK:NM_001135648:exon10:c.T1614C:p.V538V,PTPRK:NM_001291981:exon10:c.T1614C:p.V538V,PTPRK:NM_001291982:exon10:c.T1614C:p.V538V,PTPRK:NM_001291984:exon10:c.T1614C:p.V538V,PTPRK:NM_002844:exon10:c.T1614C:p.V538V RS17828130 HDL cholesterol change with statins:Partial epilepsy:Autism:Tetrology of fallot
6 130031215 2 ARHGAP18 T C exonic nonsynonymous SNV ARHGAP18:NM_033515:exon1:c.A67G:p.T23A RS3752536 Stabilized warfarin dose:Arthritis including non-Rheumatoid:Longstanding arthritis:Serum creatinine:Cystatin C in serum:Rheumatoid arthritis:Variant Creutzfeldt-Jakob disease
6 130454616 2 L3MBTL3 C T exonic synonymous SNV L3MBTL3:NM_001007102:exon20:c.C1911T:p.T637T,L3MBTL3:NM_001346550:exon20:c.C1911T:p.T637T,L3MBTL3:NM_001346551:exon20:c.C1911T:p.T637T,L3MBTL3:NM_032438:exon21:c.C1986T:p.T662T
6 131148737 1 SMLR1 G A exonic nonsynonymous SNV SMLR1:NM_001195597:exon1:c.G184A:p.V62M RS1044303 Spine bone mineral density (BMD):Triglycerides:Simpson-Angus Scale:Tetrology of fallot
6 131190838 1 EPB41L2 G A exonic synonymous SNV EPB41L2:NM_001350320:exon11:c.C1056T:p.P352P,EPB41L2:NM_001350304:exon13:c.C2262T:p.P754P,EPB41L2:NM_001350305:exon13:c.C2262T:p.P754P,EPB41L2:NM_001350306:exon13:c.C2262T:p.P754P,EPB41L2:NM_001350303:exon14:c.C2325T:p.P775P,EPB41L2:NM_001350302:exon15:c.C2472T:p.P824P,EPB41L2:NM_001431:exon15:c.C2472T:p.P824P,EPB41L2:NM_001350299:exon17:c.C2628T:p.P876P,EPB41L2:NM_001350301:exon17:c.C2628T:p.P876P RS17059736 Isopropanol:Succinate:Diabetic retinopathy in Type 2 diabetes mellitus
6 132172368 1 ENPP1 A C exonic nonsynonymous SNV ENPP1:NM_006208:exon4:c.A517C:p.K173Q RS1044498 Childhood obesity (body mass index (BMI)):Obesity (body mass index (BMI)):Stroke
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 135358567 1 HBS1L T G exonic nonsynonymous SNV HBS1L:NM_001145207:exon5:c.A1028C:p.E343A RS7742542 Gene expression of ALDH8A1 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:LDL cholesterol:Total cholesterol:LDL cholesterol change with statins:Total cholesterol change with statins:Chronic kidney disease:Total cholesterol:Gene expression of ALDH8A1 (probeID ILMN_1681938) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ALDH8A1 (probeID ILMN_2365176) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ALDH8A1 (probeID ILMN_2365176) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ALDH8A1 (probeID ILMN_1681938) in temporal cortex in Alzheimer's disease cases and controls:Red blood cell count (RBC)
6 137519588 1 IFNGR1 A C exonic synonymous SNV IFNGR1:NM_000416:exon7:c.T1050G:p.S350S
6 138196066 1 TNFAIP3 T G exonic nonsynonymous SNV TNFAIP3:NM_001270507:exon3:c.T380G:p.F127C,TNFAIP3:NM_001270508:exon3:c.T380G:p.F127C,TNFAIP3:NM_006290:exon3:c.T380G:p.F127C RS2230926 HDL cholesterol:Systemic lupus erythematosus (SLE):Systemic lupus erythematosus (SLE):Systemic lupus erythematosus (SLE):Rheumatoid arthritis:Selective immunoglobulin A deficiency (IgAD):Systemic lupus erythematosus (SLE):Adiponectin levels:Systemic lupus erythematosus (SLE)
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 138734085 1 HEBP2 G A exonic nonsynonymous SNV HEBP2:NM_001326380:exon4:c.G521A:p.R174K,HEBP2:NM_014320:exon4:c.G488A:p.R163K
6 138753337 1 NHSL1 C T exonic synonymous SNV NHSL1:NM_020464:exon5:c.G2157A:p.K719K,NHSL1:NM_001144060:exon6:c.G2145A:p.K715K RS2039121 2 hour glucose
6 138754323 1 NHSL1 A G exonic synonymous SNV NHSL1:NM_020464:exon5:c.T1171C:p.L391L,NHSL1:NM_001144060:exon6:c.T1159C:p.L387L RS2327891 Coronary artery disease (CAD), combined control dataset, gender differentiated:LDL cholesterol:Schizophrenia:2 hour glucose:Cystatin C in serum:Gene expression of CTNND1 in peripheral blood monocytes:Gene expression of RP3-422G23.1 in blood:Birth weight:Tetrology of fallot
6 139071358 1 GVQW2 T A exonic synonymous SNV GVQW2:NM_001242740:exon3:c.A207T:p.S69S
6 139695061 1 CITED2 G T exonic synonymous SNV CITED2:NM_001168388:exon2:c.C21A:p.A7A,CITED2:NM_001168389:exon2:c.C36A:p.A12A,CITED2:NM_006079:exon2:c.C21A:p.A7A
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 144758799 2 UTRN A G exonic synonymous SNV UTRN:NM_007124:exon10:c.A1158G:p.E386E RS4895642 Birth weight:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
6 144999679 1 UTRN A G exonic synonymous SNV UTRN:NM_007124:exon51:c.A7617G:p.R2539R
6 145051594 1 UTRN G A exonic synonymous SNV UTRN:NM_007124:exon53:c.G7911A:p.E2637E RS4305737 LDL cholesterol:HDL cholesterol
6 146127029 1 FBXO30 T C exonic synonymous SNV FBXO30:NM_001348092:exon2:c.A513G:p.L171L,FBXO30:NM_032145:exon2:c.A513G:p.L171L
6 147680359 1 STXBP5 A G exonic synonymous SNV STXBP5:NM_139244:exon21:c.A2337G:p.L779L,STXBP5:NM_001127715:exon23:c.A2445G:p.L815L RS9390459 von Willebrand factor (vWF) in plasma:FVIII in plasma:Neuroblastoma (brain cancer):Urinary albumin-to-creatinine ratio:Microalbuminuria:von Willebrand factor (vWF):Gene expression of STXBP5 in blood
6 148865257 2 SASH1 A G exonic nonsynonymous SNV SASH1:NM_001346507:exon11:c.A1934G:p.Q645R,SASH1:NM_001346508:exon11:c.A2423G:p.Q808R,SASH1:NM_001346509:exon11:c.A2300G:p.Q767R,SASH1:NM_001346505:exon18:c.A2516G:p.Q839R,SASH1:NM_015278:exon18:c.A2651G:p.Q884R,SASH1:NM_001346506:exon19:c.A2279G:p.Q760R RS208696 Hip bone mineral density (BMD):Stabilized warfarin dose:Diabetic retinopathy in Type 2 diabetes mellitus
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 151669875 1 AKAP12 A G exonic nonsynonymous SNV AKAP12:NM_144497:exon2:c.A55G:p.K19E,AKAP12:NM_005100:exon4:c.A349G:p.K117E RS10872670 Irritible bowel syndrome:Multiple sclerosis severity scale:Triglycerides:Differential exon level expression of AKAP12 [probe 2931627] in brain cortex:Gene expression of RP11-108N8.2 in blood:Birth weight:Infant head circumference
6 151670897 1 AKAP12 T C exonic synonymous SNV AKAP12:NM_144497:exon2:c.T1077C:p.A359A,AKAP12:NM_005100:exon4:c.T1371C:p.A457A RS900654 Spine bone mineral density (BMD):Irritible bowel syndrome:Triglycerides:Differential exon level expression of AKAP12 [probe 2931627] in brain cortex:Gene expression of RP11-108N8.2 in blood:Amyotrophic lateral sclerosis (ALS):Birth weight
6 151673074 1 AKAP12 C G exonic nonsynonymous SNV AKAP12:NM_144497:exon2:c.C3254G:p.P1085R,AKAP12:NM_005100:exon4:c.C3548G:p.P1183R
6 151674326 1 AKAP12 A C exonic nonsynonymous SNV AKAP12:NM_144497:exon2:c.A4506C:p.E1502D,AKAP12:NM_005100:exon4:c.A4800C:p.E1600D RS3823310 Rheumatoid arthritis:Schizophrenia:Differential exon level expression of AKAP12 [probe 2931627] in brain cortex:Breast cancer:Endometriosis
6 151686905 1 ZBTB2 C T exonic synonymous SNV ZBTB2:NM_020861:exon3:c.G1296A:p.E432E
6 151766552 1 RMND1 G A exonic nonsynonymous SNV RMND1:NM_017909:exon2:c.C395T:p.T132M
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 152529260 2 SYNE1 G A exonic synonymous SNV SYNE1:NM_033071:exon124:c.C22458T:p.I7486I,SYNE1:NM_182961:exon125:c.C22671T:p.I7557I RS3798756 Alzheimer's disease:Fasting blood glucose:HOMA-IR:Adiponectin levels:Refractive error
6 153215839 2
6 153296541 2 FBXO5 G C exonic nonsynonymous SNV FBXO5:NM_001142522:exon2:c.C181G:p.Q61E,FBXO5:NM_012177:exon2:c.C319G:p.Q107E RS2073260 Major depressive disorder (broad definition) (females):Major depressive disorder (broad definition):Major depressive disorder:2 hour glucose:Lp-PLA2 activity:LDL cholesterol:Total cholesterol:Waist hip ratio:Adiponectin levels:Aortic valve calcium
6 153315696 1 MTRF1L G A exonic synonymous SNV MTRF1L:NM_001114184:exon4:c.C639T:p.R213R,MTRF1L:NM_001301047:exon4:c.C531T:p.R177R,MTRF1L:NM_001301870:exon4:c.C531T:p.R177R,MTRF1L:NM_001301871:exon4:c.C213T:p.R71R,MTRF1L:NM_019041:exon4:c.C639T:p.R213R
6 153323594 2 MTRF1L C T exonic nonsynonymous SNV MTRF1L:NM_001114184:exon1:c.G227A:p.R76Q,MTRF1L:NM_001301047:exon1:c.G227A:p.R76Q,MTRF1L:NM_001301870:exon1:c.G227A:p.R76Q,MTRF1L:NM_001301872:exon1:c.G227A:p.R76Q,MTRF1L:NM_019041:exon1:c.G227A:p.R76Q
6 153323709 2 MTRF1L T C exonic nonsynonymous SNV MTRF1L:NM_001114184:exon1:c.A112G:p.T38A,MTRF1L:NM_001301047:exon1:c.A112G:p.T38A,MTRF1L:NM_001301870:exon1:c.A112G:p.T38A,MTRF1L:NM_001301872:exon1:c.A112G:p.T38A,MTRF1L:NM_019041:exon1:c.A112G:p.T38A
6 154771277 2 CNKSR3 A G exonic synonymous SNV CNKSR3:NM_173515:exon2:c.T168C:p.I56I RS9322467 2 hour glucose:Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration (geographic atrophy)
6 158322995 1 SNX9 G A exonic nonsynonymous SNV SNX9:NM_016224:exon6:c.G538A:p.D180N
6 158330765 1 SNX9 G A exonic synonymous SNV SNX9:NM_016224:exon8:c.G774A:p.R258R RS3211067 Triglycerides:2 hour glucose:Cystatin C in serum:Serum creatinine:Waist hip ratio:Diabetic retinopathy in Type 2 diabetes mellitus:Adiponectin levels
6 158497717 1 SYNJ2 T C exonic synonymous SNV SYNJ2:NM_001178088:exon16:c.T1641C:p.V547V,SYNJ2:NM_003898:exon17:c.T2352C:p.V784V RS2296508 Triglycerides:Gene expression change of GTF2H5 (ENSG00000185068) in dendritic cells after treatment with Mycobacterium tuberculosis:Salmonella-induced pyroptosis
6 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 158507981 1 SYNJ2 G A exonic synonymous SNV SYNJ2:NM_001178088:exon22:c.G2592A:p.R864R,SYNJ2:NM_003898:exon23:c.G3303A:p.R1101R
6 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 158517308 1 SYNJ2 A G exonic nonsynonymous SNV SYNJ2:NM_001178088:exon26:c.A3692G:p.E1231G,SYNJ2:NM_003898:exon27:c.A4403G:p.E1468G RS2502601 LDL cholesterol change with statins:Lp-PLA2 mass:Triglycerides:Gene expression of SYNJ2 in blood
6 158735087 1 TULP4 C T exonic synonymous SNV TULP4:NM_001007466:exon1:c.C39T:p.S13S,TULP4:NM_020245:exon1:c.C39T:p.S13S RS9364951 HDL cholesterol change with statins:Height
6 158735090 1 TULP4 T C exonic synonymous SNV TULP4:NM_001007466:exon1:c.T42C:p.D14D,TULP4:NM_020245:exon1:c.T42C:p.D14D RS7756620 HOMA-IR:Fasting insulin:HDL cholesterol change with statins:Height
6 158924088 2 TULP4 T C exonic synonymous SNV TULP4:NM_020245:exon13:c.T3393C:p.D1131D
6 159190936 1 EZR C T exonic synonymous SNV EZR:NM_003379:exon10:c.G1131A:p.E377E,EZR:NM_001111077:exon11:c.G1131A:p.E377E
6 159420735 1 RSPH3 G A exonic nonsynonymous SNV RSPH3:NM_001346418:exon1:c.C274T:p.P92S,RSPH3:NM_031924:exon1:c.C274T:p.P92S
6 160113872 2 SOD2 A G exonic nonsynonymous SNV SOD2:NM_000636:exon2:c.T47C:p.V16A,SOD2:NM_001024465:exon2:c.T47C:p.V16A,SOD2:NM_001024466:exon2:c.T47C:p.V16A,SOD2:NM_001322814:exon2:c.T47C:p.V16A,SOD2:NM_001322815:exon2:c.T47C:p.V16A,SOD2:NM_001322816:exon2:c.T47C:p.V16A RS4880 Parkinson's disease (PD):Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Parkinson's disease
6 160198395 2 ACAT2 G A exonic synonymous SNV ACAT2:NM_001303253:exon7:c.G906A:p.G302G,ACAT2:NM_005891:exon7:c.G819A:p.G273G RS3465 Fasting blood glucose:LDL cholesterol:Total cholesterol:Comorbid depressive syndrome and alcohol dependence:Gene expression of MRPL18 (ENSG00000112110) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of ACAT2 in normal prepouch ileum:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Aortic valve calcium:Gene expression of TCP1 in normal prepouch ileum
6 160465641 1 IGF2R G A exonic nonsynonymous SNV IGF2R:NM_000876:exon13:c.G1717A:p.G573S
6 160494409 1 IGF2R A G exonic nonsynonymous SNV IGF2R:NM_000876:exon34:c.A4855G:p.R1619G RS629849 Autism
6 160505199 2 IGF2R C G exonic synonymous SNV IGF2R:NM_000876:exon40:c.C6051G:p.L2017L RS614754 Serum creatinine:Height
6 160769811 2 SLC22A3 C T exonic synonymous SNV SLC22A3:NM_021977:exon1:c.C360T:p.R120R RS668871 Distal colon cancer
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 167550042 2 CCR6 C T exonic synonymous SNV CCR6:NM_004367:exon3:c.C324T:p.T108T,CCR6:NM_031409:exon3:c.C324T:p.T108T
6 167719436 1 UNC93A G A exonic nonsynonymous SNV UNC93A:NM_001143947:exon5:c.G748A:p.V250I,UNC93A:NM_018974:exon6:c.G874A:p.V292I RS2072767 Triglycerides change with statins:Triglycerides change with statins:Neuroblastoma (brain cancer):Microalbuminuria:Urinary albumin-to-creatinine ratio:PROP taste detection threshold
6 167728774 1 UNC93A T C exonic nonsynonymous SNV UNC93A:NM_001143947:exon7:c.T1082C:p.M361T,UNC93A:NM_018974:exon8:c.T1208C:p.M403T
6 167728775 1 UNC93A G A exonic nonsynonymous SNV UNC93A:NM_001143947:exon7:c.G1083A:p.M361I,UNC93A:NM_018974:exon8:c.G1209A:p.M403I
6 168343838 1 AFDN T C exonic synonymous SNV AFDN:NM_001207008:exon22:c.T3060C:p.Y1020Y,AFDN:NM_001040000:exon23:c.T3108C:p.Y1036Y,AFDN:NM_001291964:exon23:c.T2985C:p.Y995Y RS1132306 Gene expression of MLLT4 [probe 2936857] in peripheral blood mononuclear cells:2 hour glucose:Gene expression of C6orf54 in CD4+ lymphocytes:Gene expression of MLLT4 in blood:Bipolar disorder:Gene expression of KIF25 (probeID ILMN_1676679) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of KIF25 (probeID ILMN_1676679) in cerebellum in Alzheimer's disease cases:Hypertension (early onset hypertension):Gene expression of KIF25 (probeID ILMN_1676679) in temporal cortex in Alzheimer's disease cases:Gene expression of KIF25 (probeID ILMN_1676679) in cerebellum in non-Alzheimer's disease samples:Gene expression of KIF25 (probeID ILMN_1676679) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of KIF25 (probeID ILMN_1676679) in cerebellum in Alzheimer's disease cases and controls
6 168349011 1 AFDN C T exonic synonymous SNV AFDN:NM_001207008:exon27:c.C3612T:p.I1204I,AFDN:NM_001040000:exon28:c.C3663T:p.I1221I,AFDN:NM_001291964:exon28:c.C3540T:p.I1180I RS9364371 Differential exon level expression of MLLT4 [probe 2936933] in peripheral blood mononuclear cells:Gene expression of MLLT4 [probe 2936857] in peripheral blood mononuclear cells:Gene expression of C6orf54 in CD4+ lymphocytes:Gene expression of KIF25 (probeID ILMN_1676679) in temporal cortex in Alzheimer's disease cases and controls:Aortic valve calcium:Gene expression of KIF25 (probeID ILMN_1676679) in cerebellum in Alzheimer's disease cases and controls
6 168352105 1 AFDN G A exonic synonymous SNV AFDN:NM_001207008:exon28:c.G3999A:p.P1333P,AFDN:NM_001040000:exon29:c.G4050A:p.P1350P,AFDN:NM_001291964:exon29:c.G3927A:p.P1309P RS2076664 Advanced age-related macular degeneration
6 170176647 1 ERMARD C T exonic synonymous SNV ERMARD:NM_001278532:exon15:c.C1239T:p.I413I,ERMARD:NM_018341:exon16:c.C1617T:p.I539I RS4716399 Salmonella-induced pyroptosis:Diabetic retinopathy in Type 2 diabetes mellitus
6 170176648 1 ERMARD A G exonic nonsynonymous SNV ERMARD:NM_001278532:exon15:c.A1240G:p.S414G,ERMARD:NM_018341:exon16:c.A1618G:p.S540G RS4716346 Gene expression of hmm32345 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Serum creatinine:Diabetic retinopathy in Type 2 diabetes mellitus
6 170862300 1 PSMB1 G C exonic nonsynonymous SNV PSMB1:NM_002793:exon1:c.C31G:p.P11A RS12717 Gene expression of PDCD2 [probe 228420_at] in lymphoblastoid cell lines:Years of education:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
6 170878793 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 299850 1 FAM20C G T exonic synonymous SNV FAM20C:NM_020223:exon10:c.G1659T:p.V553V
7 299863 1 FAM20C C T exonic nonsynonymous SNV FAM20C:NM_020223:exon10:c.C1672T:p.R558W
7 299881 1 FAM20C A G exonic nonsynonymous SNV FAM20C:NM_020223:exon10:c.A1690G:p.N564D
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 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 940181 2 ADAP1 C T exonic nonsynonymous SNV ADAP1:NM_001284311:exon5:c.G436A:p.G146S,ADAP1:NM_001284310:exon6:c.G505A:p.G169S,ADAP1:NM_001284308:exon7:c.G754A:p.G252S,ADAP1:NM_001284309:exon7:c.G505A:p.G169S,ADAP1:NM_006869:exon7:c.G721A:p.G241S
7 1481919 1 MICALL2 C A exonic synonymous SNV MICALL2:NM_182924:exon7:c.G1620T:p.A540A
7 1484572 1 MICALL2 A G exonic synonymous SNV MICALL2:NM_182924:exon6:c.T1134C:p.G378G
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 1976457 1 MAD1L1 C T exonic nonsynonymous SNV MAD1L1:NM_001304525:exon2:c.G41A:p.R14H,MAD1L1:NM_001304524:exon15:c.G1397A:p.R466H,MAD1L1:NM_001304523:exon16:c.G1673A:p.R558H,MAD1L1:NM_001013836:exon17:c.G1673A:p.R558H,MAD1L1:NM_001013837:exon17:c.G1673A:p.R558H,MAD1L1:NM_003550:exon17:c.G1673A:p.R558H RS1801368 Prostate cancer
7 2290522 1 NUDT1 C T exonic synonymous SNV NUDT1:NM_002452:exon4:c.C357T:p.D119D,NUDT1:NM_198953:exon4:c.C357T:p.D119D,NUDT1:NM_198954:exon4:c.C426T:p.D142D,NUDT1:NM_198948:exon5:c.C357T:p.D119D,NUDT1:NM_198949:exon5:c.C426T:p.D142D,NUDT1:NM_198950:exon5:c.C357T:p.D119D,NUDT1:NM_198952:exon5:c.C426T:p.D142D RS1799832 Chronic kidney disease:Salmonella-induced pyroptosis
7 2297006 1 SNX8 A G exonic synonymous SNV SNX8:NM_013321:exon9:c.T1128C:p.I376I
7 2303986 1 SNX8 T C exonic synonymous SNV SNX8:NM_013321:exon6:c.A729G:p.A243A RS2286206 HDL cholesterol
7 2394746 1 EIF3B T C exonic nonsynonymous SNV EIF3B:NM_001037283:exon1:c.T190C:p.S64P,EIF3B:NM_003751:exon1:c.T190C:p.S64P
7 2577781 1 BRAT1 T C exonic synonymous SNV BRAT1:NM_001350627:exon13:c.A1863G:p.E621E,BRAT1:NM_001350626:exon14:c.A2568G:p.E856E,BRAT1:NM_152743:exon14:c.A2388G:p.E796E RS1043291 Childhood acute lymphoblastic leukemia:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
7 2578237 1 BRAT1 T C exonic synonymous SNV BRAT1:NM_001350627:exon13:c.A1407G:p.R469R,BRAT1:NM_001350626:exon14:c.A2112G:p.R704R,BRAT1:NM_152743:exon14:c.A1932G:p.R644R
7 2578238 1 BRAT1 C T exonic nonsynonymous SNV BRAT1:NM_001350627:exon13:c.G1406A:p.R469Q,BRAT1:NM_001350626:exon14:c.G2111A:p.R704Q,BRAT1:NM_152743:exon14:c.G1931A:p.R644Q RS62907961 PROP taste detection threshold
7 2578246 1 BRAT1 C T exonic synonymous SNV BRAT1:NM_001350627:exon13:c.G1398A:p.A466A,BRAT1:NM_001350626:exon14:c.G2103A:p.A701A,BRAT1:NM_152743:exon14:c.G1923A:p.A641A
7 2583328 1 BRAT1 C T exonic synonymous SNV BRAT1:NM_001350627:exon4:c.G174A:p.T58T,BRAT1:NM_001350626:exon5:c.G699A:p.T233T,BRAT1:NM_152743:exon5:c.G699A:p.T233T
7 4802029 2 FOXK1 T G exonic synonymous SNV FOXK1:NM_001037165:exon9:c.T2136G:p.G712G
7 4823971 1 AP5Z1 C T exonic synonymous SNV AP5Z1:NM_014855:exon6:c.C759T:p.S253S
7 4827330 1 AP5Z1 C T exonic synonymous SNV AP5Z1:NM_014855:exon11:c.C1377T:p.D459D RS17135128 Serum creatinine
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 5338714 1 SLC29A4 T C exonic synonymous SNV SLC29A4:NM_001040661:exon8:c.T978C:p.D326D,SLC29A4:NM_001300847:exon8:c.T936C:p.D312D,SLC29A4:NM_153247:exon8:c.T978C:p.D326D RS6950111 HDL cholesterol:LDL cholesterol:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Gene expression of SLC29A4 in normal prepouch ileum:Diabetic retinopathy in Type 2 diabetes mellitus
7 5342474 1 SLC29A4 C T exonic synonymous SNV SLC29A4:NM_001040661:exon11:c.C1497T:p.S499S,SLC29A4:NM_001300847:exon11:c.C1455T:p.S485S,SLC29A4:NM_153247:exon11:c.C1497T:p.S499S
7 5347749 1 TNRC18 G A exonic synonymous SNV TNRC18:NM_001080495:exon30:c.C8895T:p.P2965P RS9639976 LDL cholesterol:Systolic blood pressure (SBP):College completion
7 5347914 1 TNRC18 G A exonic synonymous SNV TNRC18:NM_001080495:exon30:c.C8730T:p.D2910D
7 5372406 2 TNRC18 G T exonic synonymous SNV TNRC18:NM_001080495:exon19:c.C5994A:p.R1998R
7 5401575 1 TNRC18 C T exonic synonymous SNV TNRC18:NM_001080495:exon13:c.G4485A:p.K1495K
7 5427652 1 TNRC18 G A exonic synonymous SNV TNRC18:NM_001080495:exon5:c.C1803T:p.A601A
7 5427720 2 TNRC18 A G exonic nonsynonymous SNV TNRC18:NM_001080495:exon5:c.T1735C:p.S579P
7 5567677 1 ACTB C T exonic synonymous SNV ACTB:NM_001101:exon5:c.G942A:p.Q314Q
7 6063283 1 AIMP2 C T exonic synonymous SNV AIMP2:NM_001326607:exon3:c.C717T:p.N239N,AIMP2:NM_001326606:exon4:c.C804T:p.N268N,AIMP2:NM_001326611:exon4:c.C690T:p.N230N,AIMP2:NM_006303:exon4:c.C924T:p.N308N,AIMP2:NM_001326609:exon5:c.C690T:p.N230N,AIMP2:NM_001326610:exon5:c.C690T:p.N230N RS4560 Fasting blood glucose:Gene expression of HRI in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of EIF2AK1 [probe 217735_s_at] in lymphoblastoid cell lines:Gene expression of JTV1 in peripheral blood monocytes:Diastolic blood pressure (DBP):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
7 6370194 1 FAM220A C T exonic nonsynonymous SNV FAM220A:NM_001037163:exon2:c.G592A:p.V198M RS6952125 Stabilized warfarin dose:Differential exon level expression of MGC12966 [probe 3037307] in peripheral blood mononuclear cells:Differential exon level expression of MGC12966 [probe 3037307] in brain cortex:Gene expression of RSPH10B///PMS2CL///RSPH10B2 in blood:Gene expression of C7orf28A///RSPH10B///RSPH10B2///C7orf28B in blood:Gene expression of C7orf28A///C7orf28B in blood:Variant Creutzfeldt-Jakob disease:Years of education:Hypertension (early onset hypertension)
7 6370305 1 FAM220A C G exonic nonsynonymous SNV FAM220A:NM_001037163:exon2:c.G481C:p.V161L RS3750039 Differential splicing of MGC12966 [probeset 3037307] in lymphoblastoid cell lines
7 6370406 1 FAM220A C T exonic nonsynonymous SNV FAM220A:NM_001037163:exon2:c.G380A:p.R127Q RS3750040 Differential splicing of MGC12966 [probeset 3037307] in lymphoblastoid cell lines
7 6449967 1 DAGLB T G exonic synonymous SNV DAGLB:NM_001142936:exon12:c.A1227C:p.G409G,DAGLB:NM_139179:exon14:c.A1614C:p.G538G
7 6505901 2 KDELR2 T C exonic synonymous SNV KDELR2:NM_006854:exon4:c.A405G:p.L135L
7 6621277 1 ZDHHC4 G A exonic nonsynonymous SNV ZDHHC4:NM_001134387:exon4:c.G157A:p.V53M,ZDHHC4:NM_001134389:exon4:c.G157A:p.V53M,ZDHHC4:NM_018106:exon4:c.G157A:p.V53M,ZDHHC4:NM_001134388:exon5:c.G157A:p.V53M RS11559146 Diabetic retinopathy in Type 2 diabetes mellitus:Salmonella-induced pyroptosis
7 6639953 1 C7orf26 G A exonic synonymous SNV C7orf26:NM_024067:exon4:c.G1074A:p.V358V,C7orf26:NM_001303039:exon5:c.G783A:p.V261V
7 6647738 2 C7orf26 T C exonic synonymous SNV C7orf26:NM_024067:exon6:c.T1296C:p.H432H,C7orf26:NM_001303039:exon7:c.T1005C:p.H335H
7 6656897 2 ZNF853 A G exonic nonsynonymous SNV ZNF853:NM_017560:exon2:c.A89G:p.Q30R RS1806552 HOMA-B:Fasting insulin:HOMA-IR:Body mass index (BMI)
7 6731672 1 ZNF12 G C exonic nonsynonymous SNV ZNF12:NM_016265:exon5:c.C901G:p.Q301E,ZNF12:NM_006956:exon6:c.C787G:p.Q263E
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 11022564 1 PHF14 G A exonic synonymous SNV PHF14:NM_014660:exon3:c.G678A:p.A226A
7 12263971 1 TMEM106B G A exonic nonsynonymous SNV TMEM106B:NM_001134232:exon4:c.G401A:p.S134N,TMEM106B:NM_018374:exon5:c.G401A:p.S134N
7 12269417 1 TMEM106B C G exonic nonsynonymous SNV TMEM106B:NM_001134232:exon5:c.C554G:p.T185S,TMEM106B:NM_018374:exon6:c.C554G:p.T185S RS3173615 Gene expression of FLJ11273 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Height
7 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 16666741 1 ANKMY2 T G exonic synonymous SNV ANKMY2:NM_020319:exon3:c.A195C:p.L65L RS11532682 Advanced age-related macular degeneration
7 16666759 1 ANKMY2 G C exonic synonymous SNV ANKMY2:NM_020319:exon3:c.C177G:p.L59L RS11531477 Advanced age-related macular degeneration
7 16823095 2 TSPAN13 G A exonic synonymous SNV TSPAN13:NM_014399:exon6:c.G594A:p.A198A RS11491 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
7 17854532 1 SNX13 G T exonic synonymous SNV SNX13:NM_001350862:exon20:c.C2022A:p.P674P,SNX13:NM_001350863:exon20:c.C1749A:p.P583P,SNX13:NM_015132:exon20:c.C1989A:p.P663P,SNX13:NM_001350864:exon21:c.C1683A:p.P561P,SNX13:NM_001350865:exon21:c.C1683A:p.P561P,SNX13:NM_001350866:exon21:c.C1380A:p.P460P,SNX13:NM_001350867:exon21:c.C1380A:p.P460P RS2723501 LDL cholesterol:HDL cholesterol:Total cholesterol:LDL cholesterol:Years of education:College completion:Adiponectin levels
7 23164701 1 KLHL7 C T exonic synonymous SNV KLHL7:NM_001031710:exon4:c.C352T:p.L118L,KLHL7:NM_001172428:exon4:c.C352T:p.L118L,KLHL7:NM_018846:exon4:c.C208T:p.L70L RS15775 Serum creatinine:Cystatin C in serum:Gene expression of GPNMB in Frontal cortex:Parkinson's disease (PD):Sporadic Creutzfeldt-Jakob disease:Tetrology of fallot:Hypertension (early onset hypertension)
7 23313171 1 GPNMB T C exonic synonymous SNV GPNMB:NM_001005340:exon10:c.T1497C:p.S499S,GPNMB:NM_002510:exon10:c.T1461C:p.S487S
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 24758795 1 DFNA5 T C exonic synonymous SNV DFNA5:NM_001127453:exon4:c.A447G:p.E149E,DFNA5:NM_004403:exon4:c.A447G:p.E149E RS876305 Methylation levels at chr7:24763838-24763888 [hg18 coord, probe cg04770504] in Caudal pons
7 24854765 1 OSBPL3 G A exonic synonymous SNV OSBPL3:NM_145322:exon16:c.C1884T:p.S628S,OSBPL3:NM_145320:exon17:c.C1992T:p.S664S,OSBPL3:NM_145321:exon17:c.C1977T:p.S659S,OSBPL3:NM_015550:exon19:c.C2085T:p.S695S RS1044956 Gene expression of DFNA5 in peripheral blood monocytes:Years of education:College completion
7 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 25194753 1 C7orf31 C T exonic nonsynonymous SNV C7orf31:NM_138811:exon6:c.G472A:p.A158T RS12535348 PROP taste detection threshold:Salmonella-induced pyroptosis
7 27169093 2 HOXA4 T G exonic synonymous SNV HOXA4:NM_002141:exon2:c.A714C:p.R238R RS2158218 Mitral annular calcium
7 27827103 2 TAX1BP1 T A exonic nonsynonymous SNV TAX1BP1:NM_001206902:exon7:c.T448A:p.L150I,TAX1BP1:NM_001079864:exon8:c.T919A:p.L307I,TAX1BP1:NM_001206901:exon8:c.T919A:p.L307I,TAX1BP1:NM_006024:exon8:c.T919A:p.L307I
7 29605975 2 PRR15 C G exonic synonymous SNV PRR15:NM_001329996:exon2:c.C30G:p.S10S,PRR15:NM_001329997:exon2:c.C30G:p.S10S,PRR15:NM_175887:exon2:c.C30G:p.S10S
7 30634661 2 GARS C G exonic nonsynonymous SNV GARS:NM_002047:exon1:c.C124G:p.P42A RS1049402 HOMA-B:HOMA-IR:College completion:Years of education
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 32613020 2 AVL9 A G exonic synonymous SNV AVL9:NM_015060:exon12:c.A1560G:p.T520T RS1993050 Gene expression of DPY19L1P1 [probe 215102_at] in lymphoblastoid cell lines:Gene expression of FKBP9L in peripheral blood monocytes:Obesity with early age of onset (age >2):Adiponectin levels
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 34979905 1 DPY19L1 C A exonic nonsynonymous SNV DPY19L1:NM_015283:exon19:c.G1505T:p.G502V RS1637696 Birth weight:Advanced age-related macular degeneration (geographic atrophy)
7 36338749 2 EEPD1 T C exonic synonymous SNV EEPD1:NM_030636:exon8:c.T1644C:p.D548D RS196613 HOMA-IR:Height
7 37988589 2 EPDR1 C T exonic synonymous SNV EPDR1:NM_001242948:exon2:c.C234T:p.I78I,EPDR1:NM_017549:exon2:c.C417T:p.I139I RS2044831 Stabilized warfarin dose:Triglycerides change with statins:Partial epilepsy:Gene expression of EPDR1 [probe ILMN_25170] in osteoblasts treated with PGE2:Gene expression change of SFRP4 (ENSG00000106483) in dendritic cells after treatment with Mycobacterium tuberculosis:Tetrology of fallot
7 40039041 1 CDK13 C T exonic synonymous SNV CDK13:NM_003718:exon4:c.C2124T:p.I708I,CDK13:NM_031267:exon4:c.C2124T:p.I708I
7 40314165 1 SUGCT G A exonic synonymous SNV SUGCT:NM_001193311:exon8:c.G651A:p.L217L,SUGCT:NM_001193313:exon8:c.G651A:p.L217L,SUGCT:NM_024728:exon8:c.G540A:p.L180L RS12669315 Parkinson's disease
7 40899967 1 SUGCT G C exonic synonymous SNV SUGCT:NM_001193312:exon13:c.G1083C:p.P361P,SUGCT:NM_001193313:exon14:c.G1227C:p.P409P,SUGCT:NM_001193311:exon15:c.G1305C:p.P435P,SUGCT:NM_024728:exon15:c.G1194C:p.P398P RS2010706 2 hour glucose:Waist hip ratio:Birth weight
7 43664280 2 STK17A A G exonic nonsynonymous SNV STK17A:NM_004760:exon7:c.A1084G:p.K362E RS1044141 Gene expression of C7orf44 [probe 209445_x_at] in lymphoblastoid cell lines:Schizophrenia:Premature ovarian failure:Gene expression of C7orf44 [probe 209445_x_at] in prefrontal cortex:Lp-PLA2 mass:Lp-PLA2 activity:Gene expression of DNAL1 in peripheral blood monocytes:Gene expression of BLVRA in peripheral blood monocytes:Gene expression of FLJ10803 [probe ILMN_139206] in osteoblasts treated with dexamethasone:Gene expression of C7orf44 in blood:Gene expression of BLVRA in blood:Gene expression of [probe 6510438 centered at chr7:43637667] in blood:Refractive error:Advanced age-related macular degeneration (geographic atrophy)
7 43846603 1 BLVRA A G exonic synonymous SNV BLVRA:NM_000712:exon8:c.A660G:p.G220G,BLVRA:NM_001253823:exon9:c.A660G:p.G220G RS7738 Fasting blood glucose:Triglycerides change with statins:Chronic kidney disease:LDL cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
7 43916727 1 URGCP T G exonic nonsynonymous SNV URGCP:NM_017920:exon5:c.A2308C:p.M770L,URGCP:NM_001077663:exon6:c.A2335C:p.M779L,URGCP:NM_001077664:exon6:c.A2206C:p.M736L,URGCP:NM_001290075:exon6:c.A2206C:p.M736L,URGCP:NM_001290076:exon7:c.A2206C:p.M736L RS2232108 Schizophrenia:Alzheimer's disease (APOE4 positive):Total cholesterol:Gene expression of BLVRA in blood:Gene expression of POLM in blood:Gene expression of DBNL in blood:Gene expression of C7orf44 in blood:Variant Creutzfeldt-Jakob disease:Refractive error:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
7 43917013 1 URGCP G A exonic synonymous SNV URGCP:NM_017920:exon5:c.C2022T:p.H674H,URGCP:NM_001077663:exon6:c.C2049T:p.H683H,URGCP:NM_001077664:exon6:c.C1920T:p.H640H,URGCP:NM_001290075:exon6:c.C1920T:p.H640H,URGCP:NM_001290076:exon7:c.C1920T:p.H640H RS2232105 Schizophrenia:Total cholesterol:Bipolar disorder:Gene expression of BLVRA in peripheral blood monocytes:Gene expression of BLVRA in blood:Gene expression of POLM in blood:Gene expression of DBNL in blood:Gene expression of C7orf44 in blood:Variant Creutzfeldt-Jakob disease:Refractive error:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration (geographic atrophy)
7 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 43917387 1 URGCP A G exonic nonsynonymous SNV URGCP:NM_017920:exon5:c.T1648C:p.S550P,URGCP:NM_001077663:exon6:c.T1675C:p.S559P,URGCP:NM_001077664:exon6:c.T1546C:p.S516P,URGCP:NM_001290075:exon6:c.T1546C:p.S516P,URGCP:NM_001290076:exon7:c.T1546C:p.S516P
7 44579180 1 NPC1L1 G C exonic synonymous SNV NPC1L1:NM_001101648:exon2:c.C816G:p.L272L,NPC1L1:NM_001300967:exon2:c.C816G:p.L272L,NPC1L1:NM_013389:exon2:c.C816G:p.L272L RS2072183 Gene expression of HNLF in CEU-CHB-JPT lymphoblastoid cell lines:LDL cholesterol:Fasting blood glucose:HOMA-B:Triglycerides:LDL cholesterol:Total cholesterol:Response to fenofibrate change in LDL diameter:Birth weight:Diabetic retinopathy in Type 2 diabetes mellitus:LDL cholesterol:Total cholesterol
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 44612229 1 DDX56 G A exonic synonymous SNV DDX56:NM_001257189:exon4:c.C498T:p.D166D,DDX56:NM_019082:exon4:c.C498T:p.D166D RS2289057 Triglycerides:Infant head circumference
7 44663981 1 OGDH A C exonic synonymous SNV OGDH:NM_001003941:exon2:c.A39C:p.P13P,OGDH:NM_001165036:exon2:c.A39C:p.P13P,OGDH:NM_002541:exon2:c.A39C:p.P13P
7 44806089 1 ZMIZ2 G A exonic nonsynonymous SNV ZMIZ2:NM_174929:exon16:c.G2404A:p.G802R,ZMIZ2:NM_001300959:exon17:c.G2308A:p.G770R,ZMIZ2:NM_031449:exon18:c.G2482A:p.G828R
7 45077978 1 CCM2 G A exonic nonsynonymous SNV CCM2:NM_001029835:exon2:c.G220A:p.V74I,CCM2:NM_001167935:exon2:c.G157A:p.V53I,CCM2:NM_031443:exon2:c.G157A:p.V53I RS2107732 Simpson-Angus Scale:Total cholesterol change with statins:LDL cholesterol change with statins:Diastolic blood pressure (DBP)
7 45113121 1 CCM2 G A exonic nonsynonymous SNV CCM2:NM_001167935:exon6:c.G593A:p.S198N,CCM2:NM_001167934:exon7:c.G692A:p.S231N,CCM2:NM_001029835:exon8:c.G929A:p.S310N,CCM2:NM_031443:exon8:c.G866A:p.S289N
7 47323456 1 TNS3 A G exonic synonymous SNV TNS3:NM_022748:exon28:c.T3936C:p.N1312N RS3750164 Microalbuminuria:PROP taste detection threshold:Mitral annular calcium
7 47408029 2 TNS3 A G exonic synonymous SNV TNS3:NM_022748:exon17:c.T2214C:p.G738G RS2255744 PROP taste detection threshold
7 47408443 1 TNS3 C G exonic nonsynonymous SNV TNS3:NM_022748:exon17:c.G1800C:p.Q600H
7 47408974 2 TNS3 T A exonic synonymous SNV TNS3:NM_022748:exon17:c.A1269T:p.A423A
7 50611735 2 DDC T C exonic nonsynonymous SNV DDC:NM_000790:exon2:c.A49G:p.M17V,DDC:NM_001082971:exon2:c.A49G:p.M17V,DDC:NM_001242886:exon2:c.A49G:p.M17V,DDC:NM_001242887:exon2:c.A49G:p.M17V,DDC:NM_001242888:exon2:c.A49G:p.M17V,DDC:NM_001242889:exon2:c.A49G:p.M17V,DDC:NM_001242890:exon2:c.A49G:p.M17V
7 51096036 1 COBL G C exonic nonsynonymous SNV COBL:NM_001346442:exon10:c.C2757G:p.H919Q,COBL:NM_001346443:exon10:c.C2757G:p.H919Q,COBL:NM_015198:exon10:c.C2757G:p.H919Q,COBL:NM_001287436:exon11:c.C2928G:p.H976Q,COBL:NM_001346441:exon11:c.C2928G:p.H976Q RS2240089 Triglycerides:HDL cholesterol ratio:Simpson-Angus Scale:Cystatin C in serum:HDL cholesterol
7 51096974 2 COBL C T exonic nonsynonymous SNV COBL:NM_001346442:exon10:c.G1819A:p.V607I,COBL:NM_001346443:exon10:c.G1819A:p.V607I,COBL:NM_015198:exon10:c.G1819A:p.V607I,COBL:NM_001287436:exon11:c.G1990A:p.V664I,COBL:NM_001346441:exon11:c.G1990A:p.V664I RS2240090 Eye color:Rheumatoid arthritis:Gene expression of 40796 in peripheral blood monocytes:Diabetic retinopathy in Type 2 diabetes mellitus:Birth weight
7 51097063 2 COBL T G exonic nonsynonymous SNV COBL:NM_001346442:exon10:c.A1730C:p.D577A,COBL:NM_001346443:exon10:c.A1730C:p.D577A,COBL:NM_015198:exon10:c.A1730C:p.D577A,COBL:NM_001287436:exon11:c.A1901C:p.D634A,COBL:NM_001346441:exon11:c.A1901C:p.D634A RS10230120 LDL cholesterol:Urinary albumin-to-creatinine ratio:Refractive error
7 51287470 1 COBL A G exonic synonymous SNV COBL:NM_001287436:exon2:c.T213C:p.S71S,COBL:NM_001287438:exon2:c.T213C:p.S71S,COBL:NM_001346441:exon2:c.T213C:p.S71S,COBL:NM_001346442:exon2:c.T213C:p.S71S,COBL:NM_001346443:exon2:c.T213C:p.S71S,COBL:NM_001346444:exon2:c.T213C:p.S71S,COBL:NM_015198:exon2:c.T213C:p.S71S
7 55863608 2 14-Sep A G exonic stoploss SEPT14:NM_207366:exon10:c.T1297C:p.X433Q
7 55863609 2 14-Sep T C exonic synonymous SNV SEPT14:NM_207366:exon10:c.A1296G:p.K432K
7 56126360 1 CCT6A T C exonic synonymous SNV CCT6A:NM_001009186:exon7:c.T798C:p.V266V,CCT6A:NM_001762:exon8:c.T933C:p.V311V
7 56136260 2 SUMF2 C A exonic nonsynonymous SNV SUMF2:NM_001042469:exon2:c.C210A:p.D70E,SUMF2:NM_001042470:exon2:c.C210A:p.D70E,SUMF2:NM_001130069:exon2:c.C210A:p.D70E,SUMF2:NM_015411:exon2:c.C210A:p.D70E
7 64291991 2 ZNF138 T A exonic nonsynonymous SNV ZNF138:NM_006524:exon3:c.T293A:p.F98Y,ZNF138:NM_001271638:exon4:c.T275A:p.F92Y,ZNF138:NM_001271639:exon4:c.T371A:p.F124Y
7 64438667 2 ERV3-1-ZNF117;ZNF117 G A exonic stopgain ERV3-1-ZNF117:NM_001348050:exon4:c.C1282T:p.R428X,ZNF117:NM_015852:exon4:c.C1282T:p.R428X
7 64439613 2 ERV3-1-ZNF117;ZNF117 T G exonic nonsynonymous SNV ERV3-1-ZNF117:NM_001348050:exon4:c.A336C:p.K112N,ZNF117:NM_015852:exon4:c.A336C:p.K112N RS3807068 Fasting insulin:HOMA-IR:HOMA-B:Methylation levels at chr7:64088310-64088360 [hg18 coord, probe cg00245878] in Caudal pons:Methylation levels at chr7:64088310-64088360 [hg18 coord, probe cg00245878] in Cerebellum:Gene expression of VKORC1L1 in peripheral blood monocytes:Gene expression of ERV3 in peripheral blood monocytes:Urinary albumin-to-creatinine ratio
7 64439701 2 ERV3-1-ZNF117;ZNF117 C T exonic nonsynonymous SNV ERV3-1-ZNF117:NM_001348050:exon4:c.G248A:p.C83Y,ZNF117:NM_015852:exon4:c.G248A:p.C83Y RS3807069 Fasting insulin:HOMA-IR:HOMA-B:Methylation levels at chr7:64088310-64088360 [hg18 coord, probe cg00245878] in Caudal pons:Methylation levels at chr7:64088310-64088360 [hg18 coord, probe cg00245878] in Cerebellum:Urinary albumin-to-creatinine ratio:Gene expression of ERV3-1 in normal prepouch ileum
7 64451656 2 ERV3-1 G A exonic synonymous SNV ERV3-1:NM_001007253:exon2:c.C1749T:p.V583V RS4718177 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
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 72727123 1 TRIM50 A T exonic nonsynonymous SNV TRIM50:NM_001281450:exon7:c.T1255A:p.Y419N,TRIM50:NM_001281451:exon7:c.T1258A:p.Y420N,TRIM50:NM_178125:exon7:c.T1258A:p.Y420N
7 72891754 1 BAZ1B C T exonic synonymous SNV BAZ1B:NM_032408:exon7:c.G2037A:p.S679S RS2074754 Triglycerides:Differential exon level expression of BAZ1B [probe 3056088] in peripheral blood mononuclear cells:Differential exon level expression of BAZ1B [probe 3056088] in brain cortex:Premature ovarian failure:Gene expression of BCL7B in Lymphoblastoid cell lines:Alzheimer's disease:Autism:HDL cholesterol:Triglycerides:Neuroblastoma (brain cancer)
7 72985148 1 TBL2 C T exonic nonsynonymous SNV TBL2:NM_012453:exon7:c.G1033A:p.V345I
7 73020301 1 MLXIPL T C exonic synonymous SNV MLXIPL:NM_032951:exon6:c.A759G:p.S253S,MLXIPL:NM_032952:exon6:c.A759G:p.S253S,MLXIPL:NM_032953:exon6:c.A759G:p.S253S,MLXIPL:NM_032954:exon6:c.A759G:p.S253S RS799157 Total cholesterol:Triglycerides:Salmonella-induced pyroptosis
7 73097720 1 DNAJC30 G C exonic nonsynonymous SNV DNAJC30:NM_032317:exon1:c.C34G:p.L12V
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 73530159 1 LIMK1 G A exonic nonsynonymous SNV LIMK1:NM_001204426:exon12:c.G1336A:p.G446R,LIMK1:NM_002314:exon13:c.G1438A:p.G480R
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 73944185 1 GTF2IRD1 T C exonic synonymous SNV GTF2IRD1:NM_001199207:exon9:c.T1308C:p.Y436Y,GTF2IRD1:NM_005685:exon9:c.T1212C:p.Y404Y,GTF2IRD1:NM_016328:exon9:c.T1212C:p.Y404Y RS2240357 Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration (geographic atrophy):Diabetic retinopathy in Type 2 diabetes mellitus
7 75028240 1 TRIM73 T C exonic nonsynonymous SNV TRIM73:NM_198924:exon2:c.T23C:p.L8P
7 75028241 1 TRIM73 G A exonic synonymous SNV TRIM73:NM_198924:exon2:c.G24A:p.L8L
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 75610393 1 POR G C exonic nonsynonymous SNV POR:NM_000941:exon6:c.G544C:p.E182Q
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 75615287 1 POR G A exonic synonymous SNV POR:NM_000941:exon14:c.G1716A:p.S572S RS1057870 Obesity with early age of onset (age >2)
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 75959188 1 YWHAG G A exonic synonymous SNV YWHAG:NM_012479:exon2:c.C450T:p.S150S
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 76984572 1 GSAP G A exonic synonymous SNV GSAP:NM_001350900:exon14:c.C651T:p.C217C,GSAP:NM_001350901:exon14:c.C651T:p.C217C,GSAP:NM_001350898:exon15:c.C1239T:p.C413C,GSAP:NM_001350896:exon16:c.C1296T:p.C432C,GSAP:NM_001350897:exon16:c.C1296T:p.C432C,GSAP:NM_001350899:exon16:c.C1296T:p.C432C,GSAP:NM_017439:exon16:c.C1296T:p.C432C RS2037753 HOMA-IR:Fasting blood glucose:LDL cholesterol change with statins:Total cholesterol change with statins
7 76990178 1 GSAP C G exonic synonymous SNV GSAP:NM_001350900:exon12:c.G345C:p.G115G,GSAP:NM_001350901:exon12:c.G345C:p.G115G,GSAP:NM_001350898:exon13:c.G933C:p.G311G,GSAP:NM_001350896:exon14:c.G990C:p.G330G,GSAP:NM_001350897:exon14:c.G990C:p.G330G,GSAP:NM_001350899:exon14:c.G990C:p.G330G,GSAP:NM_017439:exon14:c.G990C:p.G330G RS4727366 HOMA-IR:Fasting insulin:Fasting blood glucose:HOMA-B:LDL cholesterol change with statins:HDL cholesterol:Body mass index (BMI)
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 77423574 2 TMEM60 G A exonic synonymous SNV TMEM60:NM_032936:exon2:c.C117T:p.F39F RS7953 LDL cholesterol:Serum creatinine:Height:Waist hip ratio:Systolic blood pressure (SBP):Variant Creutzfeldt-Jakob disease:Obesity with early age of onset (age >2):Mitral annular calcium
7 83590852 2 SEMA3A T C exonic synonymous SNV SEMA3A:NM_006080:exon17:c.A2151G:p.T717T RS797821 Serum creatinine:Obesity with early age of onset (age >2)
7 86800351 2 DMTF1 A G exonic synonymous SNV DMTF1:NM_001142326:exon4:c.A9G:p.A3A,DMTF1:NM_001142327:exon5:c.A273G:p.A91A,DMTF1:NM_021145:exon7:c.A273G:p.A91A RS3747807 Eye color:Differential exon level expression of DMTF1 [probe 3011273] in brain cortex:Differential exon level expression of DMTF1 [probe 3011273] in peripheral blood mononuclear cells:HDL cholesterol:Gene expression of TP53AP1 in peripheral blood monocytes:Triglycerides:Body mass index (BMI):Gene expression of DMTF1///C7orf23 in blood
7 86813831 1 DMTF1 C G exonic synonymous SNV DMTF1:NM_001142326:exon10:c.C675G:p.V225V,DMTF1:NM_001142327:exon11:c.C939G:p.V313V,DMTF1:NM_021145:exon13:c.C939G:p.V313V RS11974238 Total cholesterol:Cystatin C in serum
7 87138645 2 ABCB1 A G exonic synonymous SNV ABCB1:NM_001348946:exon26:c.T3435C:p.I1145I,ABCB1:NM_000927:exon27:c.T3435C:p.I1145I,ABCB1:NM_001348944:exon28:c.T3435C:p.I1145I,ABCB1:NM_001348945:exon30:c.T3645C:p.I1215I RS1045642 Generalized aggressive periodontitis:HDL cholesterol change with statins:Urinary albumin-to-creatinine ratio:Cognitive response of healthy volunteers to topiramate treatment as measure by the Digit Span Backward cognitive test:LDL cholesterol:HIV-1 acquisition :Obesity with early age of onset (age >2):LDL cholesterol response after 40mg daily simvastatin treatment
7 87160618 2 ABCB1 A C exonic nonsynonymous SNV ABCB1:NM_001348946:exon21:c.T2677G:p.S893A,ABCB1:NM_000927:exon22:c.T2677G:p.S893A,ABCB1:NM_001348944:exon23:c.T2677G:p.S893A,ABCB1:NM_001348945:exon25:c.T2887G:p.S963A RS2032582 2 hour glucose:Height:Comorbid depressive syndrome and alcohol dependence:Bipolar disorder
7 87179601 2 ABCB1 A G exonic synonymous SNV ABCB1:NM_001348946:exon12:c.T1236C:p.G412G,ABCB1:NM_000927:exon13:c.T1236C:p.G412G,ABCB1:NM_001348944:exon14:c.T1236C:p.G412G,ABCB1:NM_001348945:exon16:c.T1446C:p.G482G RS1128503 2 hour glucose:Comorbid depressive syndrome and alcohol dependence:Cognitive response to topiramate treatment as measured by the Animals cognitive test:Cognitive response of healthy volunteers to topiramate treatment as measure by the Digit Symbol cognitive test:Cognitive response to topiramate treatment:Peak concentrations of active metabolite of dabigatran etexilate after treatment with dabigatran etexilate
7 89854446 2 STEAP2 T G exonic nonsynonymous SNV STEAP2:NM_001244945:exon2:c.T50G:p.F17C,STEAP2:NM_152999:exon2:c.T50G:p.F17C,STEAP2:NM_001040665:exon3:c.T50G:p.F17C,STEAP2:NM_001040666:exon3:c.T50G:p.F17C,STEAP2:NM_001244944:exon3:c.T50G:p.F17C,STEAP2:NM_001244946:exon3:c.T50G:p.F17C RS194520 Gene expression of GTPBP10 [probe 234311_s_at] in lymphoblastoid cell lines:Tardive dyskinesia:Abnormal Involuntary Movement Scale:Fasting blood glucose:HOMA-B:Partial epilepsy:Advanced age-related macular degeneration (geographic atrophy):Fasting blood glucose
7 89856608 2 STEAP2 C T exonic synonymous SNV STEAP2:NM_001244945:exon3:c.C816T:p.L272L,STEAP2:NM_152999:exon3:c.C816T:p.L272L,STEAP2:NM_001040665:exon4:c.C816T:p.L272L,STEAP2:NM_001040666:exon4:c.C816T:p.L272L,STEAP2:NM_001244944:exon4:c.C816T:p.L272L,STEAP2:NM_001244946:exon4:c.C816T:p.L272L RS110360 Gene expression of GTPBP10 [probe 234311_s_at] in lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:Advanced age-related macular degeneration (geographic atrophy)
7 89856644 1 STEAP2 C T exonic synonymous SNV STEAP2:NM_001244945:exon3:c.C852T:p.Y284Y,STEAP2:NM_152999:exon3:c.C852T:p.Y284Y,STEAP2:NM_001040665:exon4:c.C852T:p.Y284Y,STEAP2:NM_001040666:exon4:c.C852T:p.Y284Y,STEAP2:NM_001244944:exon4:c.C852T:p.Y284Y,STEAP2:NM_001244946:exon4:c.C852T:p.Y284Y RS2016903 Gene expression of HMHA1 in peripheral blood monocytes:Urea concentration:Years of education:College completion
7 89861890 2 STEAP2 G T exonic nonsynonymous SNV STEAP2:NM_152999:exon5:c.G1425T:p.M475I,STEAP2:NM_001040665:exon6:c.G1425T:p.M475I,STEAP2:NM_001244944:exon6:c.G1425T:p.M475I RS194525 Fasting blood glucose:HDL cholesterol change with statins:Partial epilepsy:Birth weight:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum in non-Alzheimer's disease samples:Years of education:Gene expression of STEAP2 in normal prepouch ileum:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Alzheimer's disease cases:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Alzheimer's disease cases and controls:Aortic valve calcium:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum in Alzheimer's disease cases:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum in non-Alzheimer's disease samples:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of STEAP2 (probeID ILMN_2344298) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of STEAP2 (probeID ILMN_1809101) in cerebellum in Alzheimer's disease cases and controls
7 89983808 2 GTPBP10 T G exonic nonsynonymous SNV GTPBP10:NM_033107:exon3:c.T264G:p.C88W RS42663 Fasting blood glucose:HDL cholesterol change with statins:Methylation levels at chr7:89678667-89678717 [hg18 coord, probe cg27626102] in Cerebellum:Triglycerides:Aortic valve calcium:Birth weight
7 91503228 1 MTERF1 C T exonic nonsynonymous SNV MTERF1:NM_001301134:exon2:c.G820A:p.A274T,MTERF1:NM_006980:exon3:c.G880A:p.A294T,MTERF1:NM_001301135:exon4:c.G820A:p.A274T RS10266424 Gene expression of AKAP9 [probe 215483_at] in lymphoblastoid cell lines:Height:Infant head circumference:Advanced age-related macular degeneration:College completion
7 91632306 2 AKAP9 C T exonic synonymous SNV AKAP9:NM_005751:exon8:c.C3075T:p.T1025T,AKAP9:NM_147185:exon8:c.C3075T:p.T1025T RS1989779 Cystatin C in serum:Height:Years of education
7 91714911 2 AKAP9 C T exonic nonsynonymous SNV AKAP9:NM_005751:exon36:c.C8935T:p.P2979S,AKAP9:NM_147185:exon36:c.C8911T:p.P2971S
7 91743150 1 CYP51A1 A G exonic synonymous SNV CYP51A1:NM_000786:exon10:c.T1359C:p.H453H,CYP51A1:NM_001146152:exon10:c.T1044C:p.H348H RS7797834 Gene expression of AKAP9 [probe 215483_at] in lymphoblastoid cell lines:Height:Infant head circumference:College completion:Aortic valve calcium
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 92970847 2 VPS50 C T exonic synonymous SNV VPS50:NM_017667:exon23:c.C2167T:p.L723L,VPS50:NM_001257998:exon24:c.C2077T:p.L693L RS2106432 HOMA-B:Asthma:Gene expression of SAMD9L in blood
7 92985252 2 VPS50 T C exonic synonymous SNV VPS50:NM_017667:exon27:c.T2635C:p.L879L,VPS50:NM_001257998:exon28:c.T2545C:p.L849L RS2374639 HOMA-B:HOMA-IR
7 94937446 2 PON1 T C exonic nonsynonymous SNV PON1:NM_000446:exon6:c.A575G:p.Q192R RS662 Hip bone mineral density (BMD):Spine bone mineral density (BMD):Rheumatoid arthritis:Variant Creutzfeldt-Jakob disease:Age at death with kuru exposure:Serum arylesterase activity:Serum metabolite (mass spec peak: 237 m/z):Parkinson's disease:Stroke:Serum metabolite (mass spec peak: 209.1 m/z):Serum paraoxonase activity
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 95025600 1 PON3 G A exonic synonymous SNV PON3:NM_000940:exon1:c.C63T:p.F21F RS13226149 Total cholesterol:LDL cholesterol:Gene expression of PON2 in blood:Serum metabolite (mass spec peak: 209.1 m/z):Gene expression of PON1 in normal prepouch ileum:Infant head circumference:Advanced age-related macular degeneration:Parkinson's disease:Advanced age-related macular degeneration (geographic atrophy):Gene expression of PON3 in normal prepouch ileum
7 95034775 1 PON2 G C exonic nonsynonymous SNV PON2:NM_000305:exon9:c.C932G:p.S311C,PON2:NM_001018161:exon9:c.C896G:p.S299C RS7493 LDL cholesterol:Gene expression of PON2 in peripheral blood monocytes:Total cholesterol:Variant Creutzfeldt-Jakob disease:Serum metabolite (mass spec peak: 209.1 m/z)
7 95041016 1 PON2 G C exonic nonsynonymous SNV PON2:NM_000305:exon5:c.C443G:p.A148G,PON2:NM_001018161:exon5:c.C407G:p.A136G RS12026 LDL cholesterol:Serum metabolite (mass spec peak: 209.1 m/z)
7 97488569 1 ASNS A T exonic nonsynonymous SNV ASNS:NM_001178076:exon3:c.T380A:p.V127E,ASNS:NM_001178077:exon3:c.T380A:p.V127E,ASNS:NM_001178075:exon5:c.T566A:p.V189E,ASNS:NM_001673:exon5:c.T629A:p.V210E,ASNS:NM_133436:exon5:c.T629A:p.V210E,ASNS:NM_183356:exon6:c.T629A:p.V210E RS1049674 APOB (apolipoprotein B):Body mass index (BMI)
7 97822210 1 LMTK2 G A exonic synonymous SNV LMTK2:NM_014916:exon11:c.G2433A:p.P811P RS3801294 Gene expression of HSD17B8 [probe 213540_at] in lymphoblastoid cell lines:Triglycerides:Salmonella-induced pyroptosis
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 97922875 1 BAIAP2L1 G A exonic synonymous SNV BAIAP2L1:NM_018842:exon14:c.C1494T:p.R498R RS13008 Triglycerides:Gene expression of DKFZP434B0335 in peripheral blood monocytes:Gene expression of BRI3 in peripheral blood monocytes:Gene expression of MDFIC in peripheral blood monocytes:Asthma:Gene expression of BRI3 [probe ILMN_27636] in osteoblasts treated with PGE2:Gene expression of BRI3 [probe ILMN_27636] in osteoblasts treated with BMP2:Gene expression of BRI3 [probe ILMN_27636] in osteoblasts treated with dexamethasone:Gene expression of BRI3 in blood:Gene expression of AC091654.4 in blood:Variant Creutzfeldt-Jakob disease: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 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 99123885 1 ZKSCAN5 G A exonic nonsynonymous SNV ZKSCAN5:NM_001318083:exon4:c.G1003A:p.G335R,ZKSCAN5:NM_001318084:exon4:c.G430A:p.G144R,ZKSCAN5:NM_001318082:exon6:c.G1222A:p.G408R,ZKSCAN5:NM_014569:exon6:c.G1222A:p.G408R,ZKSCAN5:NM_145102:exon6:c.G1222A:p.G408R
7 99128918 1 ZKSCAN5 A G exonic synonymous SNV ZKSCAN5:NM_001318083:exon5:c.A1347G:p.L449L,ZKSCAN5:NM_001318084:exon5:c.A774G:p.L258L,ZKSCAN5:NM_001318082:exon7:c.A1566G:p.L522L,ZKSCAN5:NM_014569:exon7:c.A1566G:p.L522L,ZKSCAN5:NM_145102:exon7:c.A1566G:p.L522L
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 99500899 1 TRIM4 T C exonic synonymous SNV TRIM4:NM_033091:exon5:c.A783G:p.V261V,TRIM4:NM_033017:exon6:c.A861G:p.V287V RS2247762 Triglycerides change with statins:Advanced age-related macular degeneration:Years of education
7 99500911 1 TRIM4 A G exonic synonymous SNV TRIM4:NM_033091:exon5:c.T771C:p.S257S,TRIM4:NM_033017:exon6:c.T849C:p.S283S RS2247761 Gene expression of TRIM4 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Simpson-Angus Scale:Triglycerides change with statins:Gene expression of PILRB in peripheral blood monocytes:Gene expression of TRIM4 in peripheral blood monocytes:Total cholesterol:College completion:Gene expression of TRIM4 (probeID ILMN_2323385) in breast tumors:Years of education
7 99569394 1 AZGP1 G A exonic synonymous SNV AZGP1:NM_001185:exon2:c.C312T:p.I104I
7 99654689 1 ZSCAN21 G A exonic synonymous SNV ZSCAN21:NM_145914:exon2:c.G60A:p.Q20Q RS11558476 Urinary albumin-to-creatinine ratio:Gene expression of ZSCAN21 in liver:Bipolar disorder:Advanced age-related macular degeneration:Gene expression change of C7orf59 (ENSG00000188186) in dendritic cells after treatment with Mycobacterium tuberculosis
7 99693078 1 MCM7 G A exonic synonymous SNV MCM7:NM_001278595:exon11:c.C1083T:p.I361I,MCM7:NM_182776:exon11:c.C1083T:p.I361I,MCM7:NM_005916:exon12:c.C1611T:p.I537I
7 99696797 1 MCM7 T C exonic nonsynonymous SNV MCM7:NM_005916:exon5:c.A431G:p.N144S RS2070215 Gene expression of ZKSCAN1 [probe 3015147] in peripheral blood mononuclear cells:Tardive dyskinesia:Triglycerides change with statins:Rheumatoid arthritis:Partial epilepsy:Total cholesterol:Triglycerides:Gene expression of TAF6 [probe ILMN_3330] in osteoblasts treated with BMP2:Gene expression of TAF6 [probe ILMN_3330] in osteoblasts treated with bmp:Gene expression of STAG3///PVRIG///AC073842.5 in blood:Gene expression of CNPY4 in blood:Gene expression of C7orf59///C7orf43 in blood:Gene expression of AC073842.5///STAG3 in blood:Gene expression of TRIM4 in blood:Gene expression of hsa-miR-93 in abdominal adipose:Obesity with early age of onset (age >2):Advanced age-related macular degeneration:Gene expression of ZKSCAN1 (probeID ILMN_2139052) in cerebellum in Alzheimer's disease cases and controls:Birth weight:Advanced age-related macular degeneration (geographic atrophy):Years of education
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 99799845 2 STAG3 T A exonic synonymous SNV STAG3:NM_001282718:exon22:c.T2271A:p.I757I,STAG3:NM_001282716:exon24:c.T2445A:p.I815I,STAG3:NM_001282717:exon24:c.T2445A:p.I815I,STAG3:NM_012447:exon24:c.T2445A:p.I815I RS1043915 LDL cholesterol change with statins:Total cholesterol:Gene expression of STAG3 in normal prepouch ileum:Birth weight:Obesity with early age of onset (age >2):Advanced age-related macular degeneration (geographic atrophy):Gene expression of GATS (probeID ILMN_1699631) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration
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 100416250 2 EPHB4 A G exonic synonymous SNV EPHB4:NM_004444:exon7:c.T1314C:p.S438S RS144173 Total cholesterol:Gene expression of MOSPD3 in blood:Gene expression of TRIP6 in blood:Gene expression of EPHB4 in blood:Gene expression of AC011895.4///UFSP1 in blood:Diastolic blood pressure (DBP)
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 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 102087202 1 ORAI2 T C exonic synonymous SNV ORAI2:NM_001271819:exon3:c.T237C:p.L79L,ORAI2:NM_032831:exon3:c.T468C:p.L156L,ORAI2:NM_001126340:exon4:c.T468C:p.L156L,ORAI2:NM_001271818:exon4:c.T468C:p.L156L RS1129271 Gene expression of LRWD1 in peripheral blood monocytes:Gene expression of RASA4 in peripheral blood monocytes:Maternal transmission distortion:Transmission distortion
7 102112980 1 LRWD1 G A exonic synonymous SNV LRWD1:NM_001317721:exon13:c.G1158A:p.T386T,LRWD1:NM_152892:exon13:c.G1614A:p.T538T
7 102279621 1 UPK3BL1 C T exonic nonsynonymous SNV UPK3BL1:NM_001114403:exon4:c.G511A:p.E171K
7 102389669 1 FAM185A C T exonic synonymous SNV FAM185A:NM_001145268:exon1:c.C15T:p.C5C,FAM185A:NM_001145269:exon1:c.C15T:p.C5C,FAM185A:NM_001350987:exon1:c.C15T:p.C5C
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 102952123 1 PMPCB G T exonic nonsynonymous SNV PMPCB:NM_004279:exon10:c.G1188T:p.E396D RS3087615 Response to anti-TNF treatment for rheumatoid arthritis (change in Disease Activity Score (DAS28)):Gene expression of ARMC10 in blood
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 107569517 2 LAMB1 A G exonic synonymous SNV LAMB1:NM_002291:exon31:c.T4879C:p.L1627L
7 107593989 2 LAMB1 T C exonic nonsynonymous SNV LAMB1:NM_002291:exon22:c.A3065G:p.Q1022R RS20556 Gene expression of DLD (ENSG00000091140) in dendritic cells:Hypertension (early onset hypertension):Obsessive-compulsive disorder (OCD):College completion:Infant head circumference
7 107603431 2 LAMB1 A C exonic synonymous SNV LAMB1:NM_002291:exon15:c.T1776G:p.P592P RS2230156 Salmonella-induced pyroptosis
7 107615506 1 LAMB1 C T exonic synonymous SNV LAMB1:NM_002291:exon12:c.G1407A:p.G469G
7 107626770 1 LAMB1 G A exonic synonymous SNV LAMB1:NM_002291:exon6:c.C462T:p.S154S
7 116397572 1 MET A G exonic synonymous SNV MET:NM_001324402:exon6:c.A654G:p.Q218Q,MET:NM_000245:exon7:c.A1944G:p.Q648Q,MET:NM_001127500:exon7:c.A1944G:p.Q648Q,MET:NM_001324401:exon7:c.A1944G:p.Q648Q RS13223756 Triglycerides:HOMA-B:Childhood acute lymphoblastic leukemia:Cystatin C in serum:Emphysema (in chronic obstructive pulmonary disease patients):Diastolic blood pressure (DBP):Resistance to kuru in aged women despite likely exposure:Transmission distortion
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 122078414 1 CADPS2 T G exonic synonymous SNV CADPS2:NM_001009571:exon16:c.A2448C:p.T816T,CADPS2:NM_001167940:exon17:c.A2457C:p.T819T,CADPS2:NM_017954:exon17:c.A2457C:p.T819T RS2074589 Spine bone mineral density (BMD):Fasting blood glucose:PROP taste detection threshold:Sporadic Creutzfeldt-Jakob disease:Infant head circumference:Parkinson's disease:Maternal transmission distortion
7 122303321 2 CADPS2 C T exonic synonymous SNV CADPS2:NM_001009571:exon3:c.G756A:p.L252L,CADPS2:NM_001167940:exon3:c.G756A:p.L252L,CADPS2:NM_017954:exon3:c.G756A:p.L252L RS2251761 Premature ovarian failure:Acute lung injury following major trauma
7 123388732 1 WASL G A exonic synonymous SNV WASL:NM_003941:exon1:c.C57T:p.S19S
7 127721507 2 SND1 T C exonic synonymous SNV SND1:NM_014390:exon18:c.T2064C:p.T688T RS322825 Body mass index (BMI):Parkinson's disease:Years of education
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 128040474 1 IMPDH1 G A exonic synonymous SNV IMPDH1:NM_001142575:exon4:c.C369T:p.G123G,IMPDH1:NM_001142573:exon5:c.C444T:p.G148G,IMPDH1:NM_001142574:exon5:c.C429T:p.G143G,IMPDH1:NM_001304521:exon5:c.C492T:p.G164G,IMPDH1:NM_183243:exon6:c.C591T:p.G197G,IMPDH1:NM_001102605:exon7:c.C669T:p.G223G,IMPDH1:NM_001142576:exon7:c.C600T:p.G200G,IMPDH1:NM_000883:exon8:c.C699T:p.G233G
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 129663496 1 ZC3HC1 C T exonic nonsynonymous SNV ZC3HC1:NM_016478:exon8:c.G1088A:p.R363H,ZC3HC1:NM_001282190:exon9:c.G1025A:p.R342H RS11556924 Coronary artery disease (CAD):Total cholesterol:Total cholesterol change with statins:Gene expression of KIAA0265 [probe 209255_at] in prefrontal cortex:HDL cholesterol:LDL cholesterol:Coronary artery disease (CAD):Body mass index (BMI):LDL cholesterol:Coronary artery disease (CAD) with age of onset >50:Coronary artery disease (CAD) (men):Coronary artery disease (CAD) with age of onset <=50:Coronary artery disease (CAD) (women):Coronary artery disease (CAD) by angiography:Myocardial infarction (MI):Presence of carotid artery plaque:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Coronary artery disease (CAD):Comorbid depressive syndrome and alcohol dependence:Systolic blood pressure (SBP):Coronary artery disease (CAD):Parkinson's disease:Birth weight:Adiponectin levels:Transmission distortion:LDL cholesterol:Diastolic blood pressure (DBP):Coronary artery disease (CAD) age >50:HDL cholesterol:Coronary artery disease (CAD):Coronary artery disease (CAD):Coronary artery disease (CAD) (females):Coronary artery calcification (CAC):Coronary artery disease (CAD) age <=50:Coronary artery disease (CAD) (males):Coronary artery disease (CAD) with myocardial infarction (MI)
7 129664312 1 ZC3HC1 T C exonic nonsynonymous SNV ZC3HC1:NM_001282191:exon7:c.A811G:p.T271A,ZC3HC1:NM_016478:exon7:c.A811G:p.T271A,ZC3HC1:NM_001282190:exon8:c.A748G:p.T250A RS1464890 LDL cholesterol:Schizophrenia:Differential exon level expression of ZC3HC1 [probe 3072383] in peripheral blood mononuclear cells:Differential exon level expression of ZC3HC1 [probe 3072383] in brain cortex:2 hour glucose:Total cholesterol change with statins:Total cholesterol:HDL cholesterol change with statins:Neuroblastoma (brain cancer):Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Parkinson's disease:Hypertension (early onset hypertension):Coronary artery disease (CAD):Adiponectin levels
7 130408745 2
7 133749164 2 EXOC4 G A exonic synonymous SNV EXOC4:NM_021807:exon18:c.G2808A:p.Q936Q RS6953296 HDL cholesterol:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:College completion
7 134215403 1 AKR1B10 T C exonic synonymous SNV AKR1B10:NM_020299:exon2:c.T75C:p.L25L RS1722883 Triglycerides:HDL cholesterol:Rheumatoid arthritis:Fasting blood glucose:Cystatin C in serum:Gene expression of AKR1B1 in peripheral blood monocytes:Triglycerides:Gene expression of AKR1B1 in blood:Infant head circumference: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 134871775 1 WDR91 C T exonic synonymous SNV WDR91:NM_014149:exon14:c.G2028A:p.S676S RS292557 Fasting blood glucose:Triglycerides: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 135279315 2 NUP205 A C exonic synonymous SNV NUP205:NM_001329434:exon13:c.A777C:p.A259A,NUP205:NM_015135:exon13:c.A1851C:p.A617A
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 139415943 1 HIPK2 G A exonic synonymous SNV HIPK2:NM_001113239:exon2:c.C891T:p.P297P,HIPK2:NM_022740:exon2:c.C891T:p.P297P RS4074826 Type 2 diabetes, Hypertension, Coronary artery disease (CAD), combined case analysis, gender differentiated:Gene expression of LOC389562 in CEU-CHB-JPT lymphoblastoid cell lines:Biploar disorder (bipolar schizoaffective disorder)
7 139801777 1 KDM7A T G exonic synonymous SNV KDM7A:NM_030647:exon12:c.A1612C:p.R538R RS1062277 Rheumatoid arthritis:HDL cholesterol:Diabetic retinopathy in Type 2 diabetes mellitus:Infant head circumference
7 140051091 1 SLC37A3 G A exonic synonymous SNV SLC37A3:NM_001287498:exon9:c.C864T:p.C288C,SLC37A3:NM_032295:exon9:c.C864T:p.C288C,SLC37A3:NM_207113:exon9:c.C864T:p.C288C RS12703775 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
7 140373326 1 ADCK2 A G exonic nonsynonymous SNV ADCK2:NM_052853:exon1:c.A196G:p.S66G
7 140394587 1 ADCK2 C T exonic nonsynonymous SNV ADCK2:NM_052853:exon8:c.C1865T:p.P622L
7 143088823 2 EPHA1 T C exonic synonymous SNV EPHA1:NM_005232:exon17:c.A2742G:p.P914P RS1804527 Hip bone mineral density (BMD):Gene expression of ZYX///EPHA1 in blood:Sporadic Creutzfeldt-Jakob disease:P21709 protein abundance levels
7 143093538 2 EPHA1 G A exonic synonymous SNV EPHA1:NM_005232:exon11:c.C1837T:p.L613L RS10952549 Asthma:PROP taste detection threshold:Tourette's syndrome
7 143097100 2 EPHA1 A G exonic nonsynonymous SNV EPHA1:NM_005232:exon4:c.T479C:p.V160A RS4725617 Urinary albumin-to-creatinine ratio:Gene expression of ZYX///EPHA1 in blood:P21709 protein abundance levels
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 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 148921732 1 ZNF282 G A exonic nonsynonymous SNV ZNF282:NM_003575:exon8:c.G2009A:p.R670Q
7 148963948 1 ZNF783 T C exonic synonymous SNV ZNF783:NM_001195220:exon3:c.T459C:p.S153S
7 148963953 1 ZNF783 T A exonic nonsynonymous SNV ZNF783:NM_001195220:exon3:c.T464A:p.L155Q
7 149152770 2 ZNF777 A G exonic nonsynonymous SNV ZNF777:NM_015694:exon2:c.T344C:p.V115A RS3735319 Hip bone mineral density (BMD):Longstanding arthritis:HOMA-B:Fasting insulin:LDL cholesterol:Total cholesterol:Lp-PLA2 activity:Total cholesterol:Triglycerides:LDL cholesterol:Body mass index (BMI):Gene expression of ZNF767 in blood:Gene expression of ZNF746 in blood:Adiponectin levels:Years of education:Hypertension (early onset hypertension)
7 149152906 2 ZNF777 G A exonic nonsynonymous SNV ZNF777:NM_015694:exon2:c.C208T:p.R70W RS3735318 LDL cholesterol:Lp-PLA2 activity:Total cholesterol:Triglycerides:LDL cholesterol:Years of education:Hypertension (early onset hypertension):Adiponectin levels
7 150761314 1 SLC4A2 G A exonic nonsynonymous SNV SLC4A2:NM_001199693:exon2:c.G50A:p.G17E,SLC4A2:NM_001199694:exon2:c.G35A:p.G12E,SLC4A2:NM_001199692:exon3:c.G77A:p.G26E,SLC4A2:NM_003040:exon3:c.G77A:p.G26E RS2303929 HDL cholesterol:Premature ovarian failure:Total cholesterol change with statins:Serum creatinine:Chronic kidney disease:HDL cholesterol:Gene expression of AGAP3 in blood:Coronary artery disease (CAD):Variant Creutzfeldt-Jakob disease:Years of education:College completion:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
7 150763655 2 SLC4A2 T A exonic synonymous SNV SLC4A2:NM_001199693:exon5:c.T603A:p.T201T,SLC4A2:NM_001199694:exon5:c.T588A:p.T196T,SLC4A2:NM_001199692:exon6:c.T630A:p.T210T,SLC4A2:NM_003040:exon6:c.T630A:p.T210T
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 150779325 1 TMUB1 A G exonic nonsynonymous SNV TMUB1:NM_001136044:exon2:c.T326C:p.F109S,TMUB1:NM_031434:exon2:c.T326C:p.F109S
7 150916228 1 ABCF2 G A exonic synonymous SNV ABCF2:NM_005692:exon8:c.C939T:p.Y313Y,ABCF2:NM_007189:exon8:c.C939T:p.Y313Y RS6949587 Alzheimer's disease:Plasma renin activity:Height:Microalbuminuria:Gene expression of ABCF2 [probeset 209246_at] in sputum:Gene expression of ABCF2 in normal prepouch ileum:College completion:Years of education
7 150921950 1 ABCF2 A G exonic synonymous SNV ABCF2:NM_005692:exon3:c.T279C:p.L93L,ABCF2:NM_007189:exon3:c.T279C:p.L93L
7 150929890 1 CHPF2 C T exonic synonymous SNV CHPF2:NM_001284295:exon1:c.C40T:p.L14L
7 150931268 1 CHPF2 C G exonic synonymous SNV CHPF2:NM_019015:exon1:c.C171G:p.S57S,CHPF2:NM_001284295:exon2:c.C147G:p.S49S RS2608293 Height:Microalbuminuria:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:College completion:Years of education
7 150934975 1 CHPF2 C G exonic synonymous SNV CHPF2:NM_019015:exon4:c.C1527G:p.A509A,CHPF2:NM_001284295:exon5:c.C1503G:p.A501A RS2487154 Height:Microalbuminuria:Years of education:Parkinson's disease:College completion
7 151064064 1 NUB1 C T exonic synonymous SNV NUB1:NM_001243351:exon9:c.C912T:p.Y304Y,NUB1:NM_016118:exon9:c.C912T:p.Y304Y RS386956 Triglycerides change with statins:Lp-PLA2 mass:Gene expression of WDR86 in peripheral blood monocytes:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Years of education:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:College completion
7 151216586 1 RHEB G T exonic synonymous SNV RHEB:NM_005614:exon1:c.C12A:p.S4S
7 154760369 1 PAXIP1 A G exonic synonymous SNV PAXIP1:NM_007349:exon7:c.T1542C:p.L514L
7 155503920 2 RBM33 A T exonic synonymous SNV RBM33:NM_053043:exon8:c.A972T:p.P324P
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 156742501 1 NOM1 C G exonic nonsynonymous SNV NOM1:NM_138400:exon1:c.C70G:p.R24G
7 156743264 1 NOM1 C A exonic nonsynonymous SNV NOM1:NM_138400:exon1:c.C833A:p.A278E
7 156974354 1 UBE3C G A exonic synonymous SNV UBE3C:NM_014671:exon7:c.G759A:p.P253P
7 157000176 2 UBE3C T C exonic synonymous SNV UBE3C:NM_014671:exon12:c.T1503C:p.Y501Y RS2301914 Gene expression of probe 1560738_at in lymphoblastoid cell lines:Gene expression of probe 1560739_a_at in lymphoblastoid cell lines:Body mass index (BMI):Atopic dermatitis:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
7 157931119 1 PTPRN2 A G exonic synonymous SNV PTPRN2:NM_001308267:exon6:c.T885C:p.A295A,PTPRN2:NM_130842:exon6:c.T948C:p.A316A,PTPRN2:NM_001308268:exon7:c.T1068C:p.A356A,PTPRN2:NM_002847:exon7:c.T999C:p.A333A,PTPRN2:NM_130843:exon7:c.T999C:p.A333A RS1130500 Differential exon level expression of PTPRN2 [probe 3082031] in brain cortex:Serum creatinine:Body mass index (BMI):Parkinson's disease:Obesity with early age of onset (age >2):Amyotrophic lateral sclerosis (ALS) age of onset
7 157931144 1 PTPRN2 C T exonic nonsynonymous SNV PTPRN2:NM_001308267:exon6:c.G860A:p.S287N,PTPRN2:NM_130842:exon6:c.G923A:p.S308N,PTPRN2:NM_001308268:exon7:c.G1043A:p.S348N,PTPRN2:NM_002847:exon7:c.G974A:p.S325N,PTPRN2:NM_130843:exon7:c.G974A:p.S325N RS1130499 Serum creatinine:LDL cholesterol:Prostate cancer:Parkinson's disease
7 157959636 2 PTPRN2 G A exonic synonymous SNV PTPRN2:NM_001308267:exon5:c.C783T:p.S261S,PTPRN2:NM_130842:exon5:c.C846T:p.S282S,PTPRN2:NM_001308268:exon6:c.C966T:p.S322S,PTPRN2:NM_002847:exon6:c.C897T:p.S299S,PTPRN2:NM_130843:exon6:c.C897T:p.S299S
7 157959911 2 PTPRN2 A G exonic nonsynonymous SNV PTPRN2:NM_001308267:exon5:c.T508C:p.S170P,PTPRN2:NM_130842:exon5:c.T571C:p.S191P,PTPRN2:NM_001308268:exon6:c.T691C:p.S231P,PTPRN2:NM_002847:exon6:c.T622C:p.S208P,PTPRN2:NM_130843:exon6:c.T622C:p.S208P RS1130495 Autism:Age-related macular degeneration
7 157985149 1 PTPRN2 C G exonic nonsynonymous SNV PTPRN2:NM_001308267:exon4:c.G305C:p.S102T,PTPRN2:NM_130842:exon4:c.G368C:p.S123T,PTPRN2:NM_001308268:exon5:c.G488C:p.S163T,PTPRN2:NM_002847:exon5:c.G419C:p.S140T,PTPRN2:NM_130843:exon5:c.G419C:p.S140T RS3800855 Total cholesterol change with statins
7 158672476 2 WDR60 C G exonic nonsynonymous SNV WDR60:NM_001350914:exon5:c.C537G:p.N179K,WDR60:NM_001350915:exon5:c.C158G:p.T53R,WDR60:NM_018051:exon5:c.C675G:p.N225K RS2709859 Aortic valve calcium
8 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 1728557 1 CLN8 C G exonic nonsynonymous SNV CLN8:NM_018941:exon3:c.C685G:p.P229A
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 6500544 2 MCPH1 C T exonic nonsynonymous SNV MCPH1:NM_024596:exon14:c.C2482T:p.P828S,MCPH1:NM_001322042:exon15:c.C2624T:p.P875L RS1057091 Stabilized warfarin dose:Triglycerides:HDL cholesterol:Differential exon level expression of MCPH1 [probe 3083855] in peripheral blood mononuclear cells:Abnormal Involuntary Movement Scale:HOMA-B:Chronic kidney disease:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Gene expression of MCPH1 [probe ILMN_28177] in osteoblasts treated with dexamethasone:Systolic blood pressure (SBP):Advanced age-related macular degeneration
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 8234077 1 PRAG1 G C exonic synonymous SNV PRAG1:NM_001080826:exon3:c.C1842G:p.A614A RS4840952 Triglycerides:Total cholesterol:Body mass index (BMI):Parkinson's disease
8 8234192 1 PRAG1 G C exonic nonsynonymous SNV PRAG1:NM_001080826:exon3:c.C1727G:p.S576C RS4840953 Total cholesterol:Body mass index (BMI):Microalbuminuria:Parkinson's disease:College completion
8 8234714 1 PRAG1 C T exonic nonsynonymous SNV PRAG1:NM_001080826:exon3:c.G1205A:p.R402Q
8 8747894 2 MFHAS1 A G exonic nonsynonymous SNV MFHAS1:NM_004225:exon1:c.T2675C:p.L892P RS429433 Hip bone mineral density (BMD):Longstanding arthritis:Arthritis including non-Rheumatoid:HDL cholesterol:Asthma:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Obesity with early age of onset (age >2):Birth weight
8 8860620 2 ERI1 T C exonic nonsynonymous SNV ERI1:NM_153332:exon1:c.T47C:p.L16P RS2288672 Serum creatinine:Triglycerides:Waist hip ratio
8 8869126 1 ERI1 A G exonic nonsynonymous SNV ERI1:NM_153332:exon3:c.A362G:p.N121S
8 9564437 1 TNKS A G exonic synonymous SNV TNKS:NM_003747:exon8:c.A1386G:p.T462T
8 9577940 2 TNKS T C exonic synonymous SNV TNKS:NM_003747:exon12:c.T1806C:p.G602G
8 9620691 1 TNKS T C exonic synonymous SNV TNKS:NM_003747:exon22:c.T3309C:p.N1103N
8 10623240 1 PINX1 T C exonic nonsynonymous SNV PINX1:NM_017884:exon7:c.A658G:p.T220A RS17711777 Triglycerides:Simpson-Angus Scale:HOMA-IR:HOMA-B:Fasting insulin:Total cholesterol
8 11637276 1 NEIL2 G A exonic nonsynonymous SNV NEIL2:NM_001135747:exon2:c.G125A:p.R42Q,NEIL2:NM_001349441:exon2:c.G125A:p.R42Q,NEIL2:NM_001135746:exon3:c.G308A:p.R103Q,NEIL2:NM_001349439:exon3:c.G125A:p.R42Q,NEIL2:NM_001349440:exon3:c.G125A:p.R42Q,NEIL2:NM_145043:exon3:c.G308A:p.R103Q,NEIL2:NM_001349442:exon4:c.G308A:p.R103Q RS8191613 LDL cholesterol change with statins:Total cholesterol change with statins:Salmonella-induced pyroptosis
8 11643553 1 NEIL2 G T exonic nonsynonymous SNV NEIL2:NM_001135747:exon4:c.G587T:p.R196L,NEIL2:NM_001349441:exon4:c.G587T:p.R196L,NEIL2:NM_001135746:exon5:c.G770T:p.R257L,NEIL2:NM_001135748:exon5:c.G422T:p.R141L,NEIL2:NM_001349439:exon5:c.G587T:p.R196L,NEIL2:NM_001349440:exon5:c.G587T:p.R196L,NEIL2:NM_145043:exon5:c.G770T:p.R257L,NEIL2:NM_001349442:exon6:c.G770T:p.R257L RS8191664 Total cholesterol:LDL cholesterol change with statins
8 11683653 2 FDFT1 T C exonic synonymous SNV FDFT1:NM_001287756:exon2:c.T130C:p.L44L,FDFT1:NM_001287750:exon4:c.T808C:p.L270L,FDFT1:NM_001287751:exon4:c.T376C:p.L126L,FDFT1:NM_001287744:exon5:c.T439C:p.L147L,FDFT1:NM_001287747:exon5:c.T439C:p.L147L,FDFT1:NM_001287748:exon5:c.T439C:p.L147L,FDFT1:NM_001287749:exon5:c.T439C:p.L147L,FDFT1:NM_004462:exon5:c.T631C:p.L211L,FDFT1:NM_001287743:exon6:c.T631C:p.L211L,FDFT1:NM_001287745:exon6:c.T439C:p.L147L,FDFT1:NM_001287742:exon7:c.T631C:p.L211L
8 11689119 1 FDFT1 G C exonic synonymous SNV FDFT1:NM_001287756:exon4:c.G471C:p.L157L,FDFT1:NM_001287750:exon6:c.G1149C:p.L383L,FDFT1:NM_001287751:exon6:c.G717C:p.L239L,FDFT1:NM_001287744:exon7:c.G780C:p.L260L,FDFT1:NM_001287747:exon7:c.G780C:p.L260L,FDFT1:NM_001287748:exon7:c.G780C:p.L260L,FDFT1:NM_001287749:exon7:c.G780C:p.L260L,FDFT1:NM_004462:exon7:c.G972C:p.L324L,FDFT1:NM_001287743:exon8:c.G972C:p.L324L,FDFT1:NM_001287745:exon8:c.G780C:p.L260L,FDFT1:NM_001287742:exon9:c.G972C:p.L324L RS9205 Triglycerides:Triglycerides:Waist hip ratio:Body mass index (BMI):Parkinson's disease:Refractive error:College completion
8 11710888 1 CTSB G C exonic nonsynonymous SNV CTSB:NM_001908:exon2:c.C76G:p.L26V,CTSB:NM_147781:exon3:c.C76G:p.L26V,CTSB:NM_147782:exon3:c.C76G:p.L26V,CTSB:NM_147783:exon3:c.C76G:p.L26V,CTSB:NM_147780:exon4:c.C76G:p.L26V RS12338 Triglycerides:LDL cholesterol:Parkinson's disease
8 12957475 1 DLC1 C T exonic nonsynonymous SNV DLC1:NM_001348084:exon4:c.G838A:p.V280M,DLC1:NM_001164271:exon5:c.G838A:p.V280M,DLC1:NM_001316668:exon5:c.G1162A:p.V388M,DLC1:NM_001348083:exon5:c.G838A:p.V280M,DLC1:NM_006094:exon5:c.G1060A:p.V354M,DLC1:NM_001348082:exon8:c.G838A:p.V280M,DLC1:NM_001348081:exon9:c.G2371A:p.V791M,DLC1:NM_182643:exon9:c.G2371A:p.V791M RS532841 HDL cholesterol:Total cholesterol:HDL cholesterol:LDL cholesterol:Gene expression of DLC1 in liver:Comorbid depressive syndrome and alcohol dependence:Variant Creutzfeldt-Jakob disease:Obesity with early age of onset (age >2):Hypertension (early onset hypertension):Advanced age-related macular degeneration (geographic atrophy)
8 12958025 1 DLC1 C A exonic synonymous SNV DLC1:NM_001348084:exon4:c.G288T:p.A96A,DLC1:NM_001164271:exon5:c.G288T:p.A96A,DLC1:NM_001316668:exon5:c.G612T:p.A204A,DLC1:NM_001348083:exon5:c.G288T:p.A96A,DLC1:NM_006094:exon5:c.G510T:p.A170A,DLC1:NM_001348082:exon8:c.G288T:p.A96A,DLC1:NM_001348081:exon9:c.G1821T:p.A607A,DLC1:NM_182643:exon9:c.G1821T:p.A607A
8 15838366 2
8 17503612 1 MTUS1 C G exonic synonymous SNV MTUS1:NM_001330470:exon9:c.G852C:p.S284S,MTUS1:NM_020749:exon10:c.G1134C:p.S378S,MTUS1:NM_001001931:exon12:c.G1377C:p.S459S,MTUS1:NM_001166393:exon12:c.G1071C:p.S357S,MTUS1:NM_001001925:exon14:c.G3474C:p.S1158S,MTUS1:NM_001001924:exon15:c.G3636C:p.S1212S RS61733704 Formate/succinate ratio
8 17513414 1 MTUS1 G A exonic synonymous SNV MTUS1:NM_001330470:exon3:c.C282T:p.Y94Y,MTUS1:NM_020749:exon4:c.C564T:p.Y188Y,MTUS1:NM_001001931:exon6:c.C807T:p.Y269Y,MTUS1:NM_001166393:exon6:c.C501T:p.Y167Y,MTUS1:NM_001001925:exon8:c.C2904T:p.Y968Y,MTUS1:NM_001001924:exon9:c.C3066T:p.Y1022Y
8 17541999 1 MTUS1 T C exonic synonymous SNV MTUS1:NM_020749:exon2:c.A174G:p.T58T,MTUS1:NM_001001931:exon4:c.A417G:p.T139T,MTUS1:NM_001166393:exon4:c.A111G:p.T37T,MTUS1:NM_001001925:exon6:c.A2514G:p.T838T,MTUS1:NM_001001924:exon7:c.A2676G:p.T892T RS2979792 Birth weight
8 17611886 1 MTUS1 G A exonic synonymous SNV MTUS1:NM_001001924:exon2:c.C1431T:p.P477P,MTUS1:NM_001001925:exon2:c.C1431T:p.P477P RS2979788 Schizophrenia:HDL cholesterol:LDL cholesterol:LDL cholesterol change with statins:Transmission distortion:Mitral annular calcium
8 17611959 1 MTUS1 T G exonic nonsynonymous SNV MTUS1:NM_001001924:exon2:c.A1358C:p.K453T,MTUS1:NM_001001925:exon2:c.A1358C:p.K453T RS17690844 HOMA-IR:LDL cholesterol change with statins:Total cholesterol change with statins:Total cholesterol:LDL cholesterol
8 17612043 1 MTUS1 G A exonic nonsynonymous SNV MTUS1:NM_001001924:exon2:c.C1274T:p.T425M,MTUS1:NM_001001925:exon2:c.C1274T:p.T425M
8 17612456 1 MTUS1 C T exonic synonymous SNV MTUS1:NM_001001924:exon2:c.G861A:p.K287K,MTUS1:NM_001001925:exon2:c.G861A:p.K287K RS11203910 LDL cholesterol:HOMA-B:LDL cholesterol change with statins:Total cholesterol change with statins:Gene expression of PGLYRP4 in peripheral blood monocytes:Microalbuminuria
8 17612875 1 MTUS1 A G exonic nonsynonymous SNV MTUS1:NM_001001924:exon2:c.T442C:p.C148R,MTUS1:NM_001001925:exon2:c.T442C:p.C148R RS3739407 Neuroblastoma (brain cancer)
8 17739538 2 FGL1 T C exonic nonsynonymous SNV FGL1:NM_004467:exon3:c.A214G:p.I72V,FGL1:NM_147203:exon3:c.A214G:p.I72V,FGL1:NM_201552:exon4:c.A214G:p.I72V,FGL1:NM_201553:exon4:c.A214G:p.I72V RS3739406 Height:Body mass index (BMI):Aortic valve calcium
8 17743020 2 FGL1 G A exonic nonsynonymous SNV FGL1:NM_004467:exon2:c.C44T:p.T15I,FGL1:NM_147203:exon2:c.C44T:p.T15I,FGL1:NM_201552:exon3:c.C44T:p.T15I,FGL1:NM_201553:exon3:c.C44T:p.T15I RS484373 Spine bone mineral density (BMD):Triglycerides:Height:Gene expression of PCM1 in blood:Gene expression of ASAH1 in blood:Gene expression of FGL1 (probeID ILMN_2366192) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of FGL1 (probeID ILMN_2366192) in cerebellum in Alzheimer's disease cases and controls
8 17796382 2 PCM1 A G exonic nonsynonymous SNV PCM1:NM_001315507:exon5:c.A476G:p.N159S,PCM1:NM_001315508:exon5:c.A476G:p.N159S,PCM1:NM_006197:exon5:c.A476G:p.N159S RS412750 Hip bone mineral density (BMD):Triglycerides:Differential exon level expression of PCM1 [probe 3087841] in brain cortex:Triglycerides:Gene expression of FGL1 (probeID ILMN_2366192) in cerebellum in Alzheimer's disease cases and controls:Gene expression of FGL1 (probeID ILMN_2366192) in temporal cortex in Alzheimer's disease cases and controls
8 17796383 2 PCM1 C T exonic synonymous SNV PCM1:NM_001315507:exon5:c.C477T:p.N159N,PCM1:NM_001315508:exon5:c.C477T:p.N159N,PCM1:NM_006197:exon5:c.C477T:p.N159N
8 17814915 2 PCM1 A G exonic nonsynonymous SNV PCM1:NM_001315507:exon12:c.A1789G:p.M597V,PCM1:NM_001315508:exon12:c.A1789G:p.M597V,PCM1:NM_006197:exon12:c.A1789G:p.M597V RS208753 Spine bone mineral density (BMD):Hip bone mineral density (BMD):Differential exon level expression of PCM1 [probe 3087841] in brain cortex:Triglycerides:Gene expression of PCM1 in blood:Gene expression of ASAH1 in blood:Gene expression of FGL1 (probeID ILMN_2366192) in cerebellum in Alzheimer's disease cases and controls:Gene expression of FGL1 (probeID ILMN_2366192) in temporal cortex in Alzheimer's disease cases and controls
8 17817657 1 PCM1 A C exonic synonymous SNV PCM1:NM_001315507:exon14:c.A2175C:p.G725G,PCM1:NM_001315508:exon14:c.A2178C:p.G726G,PCM1:NM_006197:exon14:c.A2175C:p.G725G
8 17819572 2 PCM1 C T exonic synonymous SNV PCM1:NM_001315507:exon16:c.C2352T:p.P784P,PCM1:NM_001315508:exon16:c.C2355T:p.P785P,PCM1:NM_006197:exon16:c.C2352T:p.P784P RS3780103 Height:Formate/succinate ratio:Sporadic Creutzfeldt-Jakob disease:Adiponectin levels:Aortic valve calcium
8 17830005 1 PCM1 G A exonic nonsynonymous SNV PCM1:NM_001315507:exon23:c.G3752A:p.R1251H,PCM1:NM_001315508:exon23:c.G3755A:p.R1252H,PCM1:NM_006197:exon23:c.G3752A:p.R1251H RS17514547 HDL cholesterol change with statins:Total cholesterol:HDL cholesterol
8 17918934 2 ASAH1 A G exonic nonsynonymous SNV ASAH1:NM_001127505:exon10:c.T719C:p.V240A,ASAH1:NM_004315:exon10:c.T785C:p.V262A,ASAH1:NM_177924:exon10:c.T737C:p.V246A RS10103355 Serum creatinine:Adiponectin levels
8 17927327 1 ASAH1 T C exonic nonsynonymous SNV ASAH1:NM_004315:exon4:c.A325G:p.I109V,ASAH1:NM_177924:exon4:c.A277G:p.I93V RS1049874 Differential exon level expression of ASAH1 [probe 3126118] in brain cortex:LDL cholesterol:Total cholesterol:Partial epilepsy:Height:Gene expression of ASAH1 in blood:Sporadic Creutzfeldt-Jakob disease:College completion
8 18729817 2 PSD3 G A exonic nonsynonymous SNV PSD3:NM_015310:exon3:c.C557T:p.T186M RS7016219 Rheumatoid arthritis:Premature ovarian failure:HDL cholesterol:HDL cholesterol:Bipolar disorder:Obesity with early age of onset (age >2):Mitral annular calcium:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
8 18729818 2 PSD3 T G exonic nonsynonymous SNV PSD3:NM_015310:exon3:c.A556C:p.T186P RS7003060 Rheumatoid arthritis:Premature ovarian failure:HDL cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Obesity with early age of onset (age >2):Mitral annular calcium
8 19221700 2 SH2D4A G A exonic nonsynonymous SNV SH2D4A:NM_001174160:exon6:c.G689A:p.S230N,SH2D4A:NM_001174159:exon7:c.G824A:p.S275N,SH2D4A:NM_022071:exon7:c.G824A:p.S275N
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 21956108 1 FAM160B2 A G exonic nonsynonymous SNV FAM160B2:NM_022749:exon7:c.A943G:p.T315A
8 21965113 1 NUDT18 T C exonic nonsynonymous SNV NUDT18:NM_024815:exon5:c.A670G:p.M224V RS3739435 Gene expression of FLJ22494 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:2 hour glucose:HOMA-B:Advanced age-related macular degeneration:Gene expression of NUDT18 (probeID ILMN_1787885) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of NUDT18 (probeID ILMN_1787885) in whole blood:Gene expression of NUDT18 (probeID ILMN_1787885) in cerebellum in Alzheimer's disease cases and controls
8 22105502 2 POLR3D T C exonic synonymous SNV POLR3D:NM_001722:exon4:c.T342C:p.A114A
8 22262321 1 SLC39A14 T C exonic nonsynonymous SNV SLC39A14:NM_001128431:exon2:c.T98C:p.L33P,SLC39A14:NM_001135153:exon2:c.T98C:p.L33P,SLC39A14:NM_001135154:exon2:c.T98C:p.L33P,SLC39A14:NM_001351659:exon2:c.T128C:p.L43P,SLC39A14:NM_001351660:exon2:c.T98C:p.L33P,SLC39A14:NM_015359:exon2:c.T98C:p.L33P,SLC39A14:NM_001351655:exon3:c.T98C:p.L33P,SLC39A14:NM_001351658:exon3:c.T128C:p.L43P,SLC39A14:NM_001351656:exon4:c.T98C:p.L33P,SLC39A14:NM_001351657:exon4:c.T128C:p.L43P RS896378 Rheumatoid arthritis
8 22262379 1 SLC39A14 C T exonic synonymous SNV SLC39A14:NM_001128431:exon2:c.C156T:p.G52G,SLC39A14:NM_001135153:exon2:c.C156T:p.G52G,SLC39A14:NM_001135154:exon2:c.C156T:p.G52G,SLC39A14:NM_001351659:exon2:c.C186T:p.G62G,SLC39A14:NM_001351660:exon2:c.C156T:p.G52G,SLC39A14:NM_015359:exon2:c.C156T:p.G52G,SLC39A14:NM_001351655:exon3:c.C156T:p.G52G,SLC39A14:NM_001351658:exon3:c.C186T:p.G62G,SLC39A14:NM_001351656:exon4:c.C156T:p.G52G,SLC39A14:NM_001351657:exon4:c.C186T:p.G62G
8 22262418 1 SLC39A14 A G exonic synonymous SNV SLC39A14:NM_001128431:exon2:c.A195G:p.L65L,SLC39A14:NM_001135153:exon2:c.A195G:p.L65L,SLC39A14:NM_001135154:exon2:c.A195G:p.L65L,SLC39A14:NM_001351659:exon2:c.A225G:p.L75L,SLC39A14:NM_001351660:exon2:c.A195G:p.L65L,SLC39A14:NM_015359:exon2:c.A195G:p.L65L,SLC39A14:NM_001351655:exon3:c.A195G:p.L65L,SLC39A14:NM_001351658:exon3:c.A225G:p.L75L,SLC39A14:NM_001351656:exon4:c.A195G:p.L65L,SLC39A14:NM_001351657:exon4:c.A225G:p.L75L RS2293144 Rheumatoid arthritis
8 22428658 2 SORBS3 T C exonic nonsynonymous SNV SORBS3:NM_001018003:exon7:c.T641C:p.I214T,SORBS3:NM_005775:exon18:c.T1667C:p.I556T RS2449331 Autism with low IQ:Obesity with early age of onset (age >2)
8 22451379 1 PDLIM2 C T exonic nonsynonymous SNV PDLIM2:NM_021630:exon10:c.C1765T:p.R589C
8 22886020 1 TNFRSF10B A G exonic nonsynonymous SNV TNFRSF10B:NM_003842:exon5:c.T572C:p.V191A
8 22926313 1 TNFRSF10B G A exonic nonsynonymous SNV TNFRSF10B:NM_003842:exon1:c.C95T:p.P32L,TNFRSF10B:NM_147187:exon1:c.C95T:p.P32L
8 23001988 1 TNFRSF10D A G exonic nonsynonymous SNV TNFRSF10D:NM_003840:exon7:c.T929C:p.L310S RS1133782 Gene expression of RHOBTB2///TNFRSF10B in blood
8 23058220 2 TNFRSF10A T G exonic nonsynonymous SNV TNFRSF10A:NM_003844:exon5:c.A683C:p.E228A RS20576 Gene expression of TNFRSF10A in normal prepouch ileum
8 23146095 1 R3HCC1 A G exonic nonsynonymous SNV R3HCC1:NM_001136108:exon2:c.A59G:p.H20R,R3HCC1:NM_001301650:exon2:c.A59G:p.H20R RS11546682 Birth weight
8 23147564 1 R3HCC1;R3HCC1 G A exonic;splicing nonsynonymous SNV R3HCC1:NM_001136108:exon4:c.G434A:p.R145K RS3808536 Major depressive disorder (broad definition) (males):Major depressive disorder (narrow definition) (males):LDL cholesterol:Total cholesterol:Height:Gene expression of [probe 6940047 centered at chr8:23177910] in blood:Gene expression of R3HCC1///LOXL2 in blood
8 23148930 1 R3HCC1 A G exonic synonymous SNV R3HCC1:NM_001136108:exon5:c.A909G:p.T303T,R3HCC1:NM_001301650:exon6:c.A783G:p.T261T RS2272762 Major depressive disorder (broad definition) (males):Major depressive disorder (narrow definition) (males):LDL cholesterol:Height
8 23148940 1 R3HCC1 G A exonic nonsynonymous SNV R3HCC1:NM_001136108:exon5:c.G919A:p.V307M,R3HCC1:NM_001301650:exon6:c.G793A:p.V265M RS2272761 Triglycerides:Major depressive disorder (broad definition) (males):Major depressive disorder (narrow definition) (males):LDL cholesterol:Height:Gene expression of [probe 6940047 centered at chr8:23177910] in blood:Gene expression of R3HCC1///LOXL2 in blood:Gene expression of R3HCC1 in normal prepouch ileum
8 23148978 1 R3HCC1 G T exonic synonymous SNV R3HCC1:NM_001136108:exon5:c.G957T:p.V319V,R3HCC1:NM_001301650:exon6:c.G831T:p.V277V
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 23299176 1 ENTPD4 C T exonic nonsynonymous SNV ENTPD4:NM_001128930:exon8:c.G788A:p.R263H,ENTPD4:NM_004901:exon8:c.G788A:p.R263H
8 23423758 2 SLC25A37 G A exonic synonymous SNV SLC25A37:NM_016612:exon2:c.G348A:p.P116P,SLC25A37:NM_001317813:exon3:c.G132A:p.P44P,SLC25A37:NM_001317814:exon3:c.G132A:p.P44P
8 25182969 2 DOCK5 C T exonic synonymous SNV DOCK5:NM_024940:exon18:c.C1809T:p.S603S RS2666172 Childhood acute lymphoblastic leukemia:LDL cholesterol change with statins:Triglycerides change with statins:Type 2 diabetes:Gene expression of GNRH1 (ENSG00000147437) in dendritic cells treated with Mycobacterium tuberculosis:Maternal transmission distortion:Refractive error
8 25203022 2 DOCK5 A G exonic synonymous SNV DOCK5:NM_024940:exon26:c.A2649G:p.T883T
8 25230168 2 DOCK5 C T exonic synonymous SNV DOCK5:NM_024940:exon35:c.C3618T:p.D1206D RS2271108 HDL cholesterol:Suicide attempts in bipolar disorder (substance abuse/dependence):Birth weight:Years of education:Aortic valve calcium:College completion
8 25234858 2 DOCK5 A G exonic nonsynonymous SNV DOCK5:NM_024940:exon38:c.A3854G:p.K1285R
8 25323777 2 CDCA2 T C exonic synonymous SNV CDCA2:NM_001317906:exon4:c.T429C:p.N143N,CDCA2:NM_001317907:exon5:c.T474C:p.N158N,CDCA2:NM_152562:exon5:c.T474C:p.N158N
8 26481771 2 DPYSL2 T C exonic synonymous SNV DPYSL2:NM_001197293:exon4:c.T741C:p.S247S,DPYSL2:NM_001244604:exon4:c.T318C:p.S106S,DPYSL2:NM_001386:exon4:c.T426C:p.S142S
8 26510792 1 DPYSL2 T C exonic synonymous SNV DPYSL2:NM_001197293:exon13:c.T1821C:p.P607P,DPYSL2:NM_001244604:exon13:c.T1398C:p.P466P,DPYSL2:NM_001386:exon13:c.T1506C:p.P502P RS708621 LDL cholesterol:Total cholesterol:Triglycerides:Total cholesterol:Waist hip ratio:Sporadic Creutzfeldt-Jakob disease
8 27315876 1 PTK2B A G exonic synonymous SNV PTK2B:NM_173175:exon30:c.A2754G:p.A918A,PTK2B:NM_173176:exon31:c.A2880G:p.A960A,PTK2B:NM_004103:exon32:c.A2880G:p.A960A,PTK2B:NM_173174:exon36:c.A2880G:p.A960A RS1879182 Diastolic blood pressure (DBP):Gene expression of PTK2B in normal prepouch ileum:College completion
8 27667969 2 PBK C G exonic synonymous SNV PBK:NM_001278945:exon8:c.G855C:p.A285A,PBK:NM_018492:exon8:c.G822C:p.A274A RS2294092 2 hour glucose:Triglycerides change with statins
8 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 30973957 2 WRN G T exonic synonymous SNV WRN:NM_000553:exon20:c.G2361T:p.L787L RS1800392 Longstanding arthritis:Schizophrenia:Fasting insulin:TrailsA:Gene expression of WRN in peripheral blood monocytes:Gene expression of WRN in blood:PROP taste detection threshold:Sporadic Creutzfeldt-Jakob disease:Years of education:Longevity (exceptional longevity):College completion
8 30999280 2 WRN G T exonic nonsynonymous SNV WRN:NM_000553:exon26:c.G3222T:p.L1074F RS1801195 Sporadic Creutzfeldt-Jakob disease
8 33246538 1 FUT10 A G exonic synonymous SNV FUT10:NM_032664:exon4:c.T1155C:p.D385D RS16880849 Rheumatoid arthritis:Triglycerides:Gene expression of FUT10 in normal prepouch ileum:Infant head circumference
8 33246591 1 FUT10 G C exonic nonsynonymous SNV FUT10:NM_032664:exon4:c.C1102G:p.L368V RS17855838 Prostate cancer
8 33246685 1 FUT10 G A exonic synonymous SNV FUT10:NM_032664:exon4:c.C1008T:p.Y336Y RS16880852 Type 1 diabetes, Rheumatoid arthritis, combined case analysis:Rheumatoid arthritis:Gene expression of TCF15 in peripheral blood monocytes:Triglycerides:Gene expression of FUT10 in normal prepouch ileum:Infant head circumference
8 33356074 1 MAK16 A G exonic nonsynonymous SNV MAK16:NM_032509:exon10:c.A830G:p.Q277R RS6468171 Gallstone disease:Gene expression of FUT10 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of FUT10 [probe 235472_at] in lymphoblastoid cell lines:Differential exon level expression of FUT10 [probe 3130771] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130770] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130803] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130777] in peripheral blood mononuclear cells:Gene expression of FUT10 [probe 3130757] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130781] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130806] in brain cortex:Differential exon level expression of FUT10 [probe 3130804] in peripheral blood mononuclear cells:Gene expression of RBM13 in peripheral blood monocytes:Triglycerides:Gene expression of FUT10 in CD4+ lymphocytes:Gene expression of MAK16 in liver:Gene expression of FUT10 in blood:Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration:Adiponectin levels:Infant head circumference:Years of education:Gene expression of FUT10 in normal prepouch ileum
8 33369944 1 TTI2 T C exonic nonsynonymous SNV TTI2:NM_025115:exon1:c.A188G:p.E63G,TTI2:NM_001102401:exon2:c.A188G:p.E63G,TTI2:NM_001265581:exon2:c.A188G:p.E63G,TTI2:NM_001330505:exon2:c.A188G:p.E63G RS2304748 Gene expression of FUT10 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of FUT10 [probe 235472_at] in lymphoblastoid cell lines:Differential exon level expression of FUT10 [probe 3130771] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130777] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130806] in brain cortex:Differential exon level expression of FUT10 [probe 3130770] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130804] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130803] in peripheral blood mononuclear cells:Differential exon level expression of FUT10 [probe 3130781] in peripheral blood mononuclear cells:Gene expression of FUT10 [probe 3130757] in peripheral blood mononuclear cells:Barnes Akathisia Rating Scale:Triglycerides:Gene expression of FUT10 in CD4+ lymphocytes:Asthma:Gene expression of FUT10 [probe ILMN_18464] in osteoblasts treated with PGE2:Gene expression of FUT10 [probe ILMN_18464] in untreated osteoblasts:Gene expression of FUT10 in blood:Comorbid depressive syndrome and alcohol dependence:Gene expression of FUT10 (ENSG00000172728) in dendritic cells treated with Mycobacterium tuberculosis:Adiponectin levels:Gene expression of FUT10 in normal prepouch ileum
8 33369994 1 TTI2 A G exonic synonymous SNV TTI2:NM_025115:exon1:c.T138C:p.N46N,TTI2:NM_001102401:exon2:c.T138C:p.N46N,TTI2:NM_001265581:exon2:c.T138C:p.N46N,TTI2:NM_001330505:exon2:c.T138C:p.N46N RS3098657 Gene expression of FUT10 [probe 235472_at] in lymphoblastoid cell lines:Triglycerides:Comorbid depressive syndrome and alcohol dependence:Adiponectin levels
8 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 38677553 1 TACC1 A G exonic nonsynonymous SNV TACC1:NM_001146216:exon3:c.A206G:p.Y69C,TACC1:NM_001330521:exon3:c.A206G:p.Y69C,TACC1:NM_006283:exon3:c.A791G:p.Y264C
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 48707054 1 PRKDC G A exonic unknown UNKNOWN
8 48794626 1 PRKDC C A exonic unknown UNKNOWN
8 48805788 1 PRKDC C T exonic unknown UNKNOWN
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 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 53580701 1 RB1CC1 A G exonic synonymous SNV RB1CC1:NM_001083617:exon8:c.T1053C:p.I351I,RB1CC1:NM_014781:exon8:c.T1053C:p.I351I
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 54469894 2
8 56686224 2 TGS1 T C exonic nonsynonymous SNV TGS1:NM_024831:exon1:c.T47C:p.I16T RS1818 Abnormal Involuntary Movement Scale:Rheumatoid arthritis:Gene expression of LYN in blood:Gene expression of TGS1 in blood:Aortic valve calcium
8 59512334 1 NSMAF G A exonic synonymous SNV NSMAF:NM_001144772:exon18:c.C1521T:p.D507D,NSMAF:NM_003580:exon18:c.C1428T:p.D476D RS2680903 Irritible bowel syndrome:Tardive dyskinesia:Abnormal Involuntary Movement Scale:Gene expression of TOX [probe 204529_s_at] in prefrontal cortex:Gene expression of SDCBP///NSMAF in blood:Comorbid depressive syndrome and alcohol dependence:Bipolar disorder
8 66525548 2 ARMC1 T C exonic synonymous SNV ARMC1:NM_018120:exon4:c.A396G:p.Q132Q
8 67341938 1 RRS1 G T exonic nonsynonymous SNV RRS1:NM_015169:exon1:c.G572T:p.R191L
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 74722831 1 UBE2W G C exonic nonsynonymous SNV UBE2W:NM_001271015:exon4:c.C331G:p.P111A,UBE2W:NM_018299:exon4:c.C331G:p.P111A,UBE2W:NM_001001481:exon5:c.C364G:p.P122A
8 74888616 1 TMEM70 G C exonic nonsynonymous SNV TMEM70:NM_001040613:exon1:c.G100C:p.A34P,TMEM70:NM_017866:exon1:c.G100C:p.A34P
8 74893821 1 TMEM70 A G exonic nonsynonymous SNV TMEM70:NM_017866:exon3:c.A748G:p.T250A RS1053079 Irritible bowel syndrome:Differential exon level expression of TMEM70 [probe 3103515] in peripheral blood mononuclear cells:2 hour glucose:Serum creatinine:Partial epilepsy:Gene expression of TMEM70 [transcript NM_001040613, probe A_23_P253963] in liver:Gene expression of LY96 in blood:Comorbid depressive syndrome and alcohol dependence:Gene expression of TMEM70 in normal prepouch ileum:Paternal transmission distortion
8 74893850 1 TMEM70 C G exonic nonsynonymous SNV TMEM70:NM_017866:exon3:c.C777G:p.D259E RS1053077 2 hour glucose:Serum creatinine
8 76468282 2 HNF4G G A exonic nonsynonymous SNV HNF4G:NM_004133:exon6:c.G681A:p.M227I,HNF4G:NM_001330561:exon8:c.G570A:p.M190I RS1805098 HDL cholesterol:LDL cholesterol change with statins:Total cholesterol:Body mass index (BMI):Aortic valve calcium:Serum urate
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 80976814 1 TPD52 C A exonic nonsynonymous SNV TPD52:NM_001025252:exon2:c.G154T:p.D52Y,TPD52:NM_001025253:exon2:c.G34T:p.D12Y,TPD52:NM_001287140:exon2:c.G154T:p.D52Y,TPD52:NM_001287142:exon2:c.G154T:p.D52Y,TPD52:NM_001287143:exon2:c.G154T:p.D52Y,TPD52:NM_001287144:exon2:c.G34T:p.D12Y,TPD52:NM_005079:exon2:c.G34T:p.D12Y
8 87497176 1 RMDN1 G A exonic synonymous SNV RMDN1:NM_001317807:exon5:c.C378T:p.C126C,RMDN1:NM_016033:exon5:c.C510T:p.C170C RS11539113 Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Gene expression of FAM82B in normal prepouch ileum:Adiponectin levels
8 87519315 1 RMDN1 T G exonic nonsynonymous SNV RMDN1:NM_001286707:exon2:c.A156C:p.K52N,RMDN1:NM_001286719:exon2:c.A156C:p.K52N,RMDN1:NM_001317807:exon2:c.A24C:p.K8N,RMDN1:NM_016033:exon2:c.A156C:p.K52N RS6980476 Total cholesterol:LDL cholesterol:Gene expression of WWP1 in blood:Gene expression of CPNE3 in blood:Resistance to kuru in aged women despite likely exposure:Adiponectin levels
8 90801670 1 RIPK2 T C exonic synonymous SNV RIPK2:NM_003821:exon10:c.T1245C:p.S415S
8 92083424 2 OTUD6B A G exonic synonymous SNV OTUD6B:NM_016023:exon2:c.A231G:p.Q77Q
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 95523713 1 VIRMA G A exonic synonymous SNV VIRMA:NM_015496:exon13:c.C3090T:p.D1030D,VIRMA:NM_183009:exon13:c.C3090T:p.D1030D
8 95541371 1 VIRMA T A exonic synonymous SNV VIRMA:NM_015496:exon7:c.A807T:p.R269R,VIRMA:NM_183009:exon7:c.A807T:p.R269R RS957446 Obesity with early age of onset (age >2):Refractive error
8 95877787 2 INTS8 T C exonic synonymous SNV INTS8:NM_017864:exon17:c.T2130C:p.S710S RS713113 LDL cholesterol:Fasting blood glucose:Gene expression of TP53INP1 in peripheral blood monocytes:Diastolic blood pressure (DBP):Advanced age-related macular degeneration (geographic atrophy):Refractive error
8 95888307 2 INTS8 C T exonic synonymous SNV INTS8:NM_017864:exon24:c.C2694T:p.A898A RS1129152 Fasting blood glucose:Gene expression of INTS8 [transcript NM_017864, probe A_23_P43079] in liver:Gene expression of TP53INP1///C8orf38 in blood:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Gene expression of CCNE2 [probeset 205034_at] in sputum:Variant Creutzfeldt-Jakob disease:Gene expression of TP53INP1 (ENSG00000164938) in dendritic cells:Primary rhegmatogenous retinal detachment
8 97847358 2 CPQ G T exonic synonymous SNV CPQ:NM_016134:exon3:c.G591T:p.V197V RS1864384 HDL cholesterol:Bipolar disorder
8 99115082 1 RIDA C T exonic synonymous SNV RIDA:NM_005836:exon6:c.G402A:p.T134T
8 99170404 1 POP1 C G exonic nonsynonymous SNV POP1:NM_001145860:exon16:c.C2980G:p.L994V,POP1:NM_001145861:exon16:c.C2980G:p.L994V,POP1:NM_015029:exon16:c.C2980G:p.L994V
8 101252680 2 SPAG1 T C exonic nonsynonymous SNV SPAG1:NM_003114:exon18:c.T2330C:p.M777T,SPAG1:NM_172218:exon18:c.T2330C:p.M777T RS6511 Fasting blood glucose:Lp-PLA2 mass:Triglycerides:Height:Infant head circumference
8 103306033 1 UBR5 T C exonic synonymous SNV UBR5:NM_001282873:exon34:c.A4389G:p.V1463V,UBR5:NM_015902:exon34:c.A4389G:p.V1463V RS16869352 Gene expression of RRM2B (probeID ILMN_2170595) in cerebellum in Alzheimer's disease cases and controls:Gene expression of RRM2B (probeID ILMN_2170595) in temporal cortex in Alzheimer's disease cases and controls
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 104312341 2 FZD6 A G exonic synonymous SNV FZD6:NM_001164615:exon2:c.A6G:p.E2E,FZD6:NM_003506:exon2:c.A6G:p.E2E RS3736047 Methylation levels at chr8:104380616-104380666 [hg18 coord, probe cg21975377] in Caudal pons:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
8 104337096 2 FZD6 A G exonic synonymous SNV FZD6:NM_001164615:exon4:c.A762G:p.L254L,FZD6:NM_003506:exon4:c.A762G:p.L254L,FZD6:NM_001164616:exon5:c.A666G:p.L222L RS3808554 Methylation levels at chr8:104380616-104380666 [hg18 coord, probe cg21975377] in Caudal pons:Total cholesterol
8 104337367 2 FZD6 A C exonic nonsynonymous SNV FZD6:NM_001317796:exon3:c.A118C:p.M40L,FZD6:NM_001164615:exon4:c.A1033C:p.M345L,FZD6:NM_003506:exon4:c.A1033C:p.M345L,FZD6:NM_001164616:exon5:c.A937C:p.M313L RS3808553 Hip bone mineral density (BMD):Stabilized warfarin dose:Schizophrenia:Methylation levels at chr8:104380616-104380666 [hg18 coord, probe cg21975377] in Caudal pons:Resistance to kuru in aged women despite likely exposure:Hypertension (early onset hypertension):Allele-specific Expression Patterns in human glioblastoma cell line U87MG
8 104343686 2 FZD6 G A exonic synonymous SNV FZD6:NM_001317796:exon6:c.G1155A:p.P385P,FZD6:NM_001164615:exon7:c.G2070A:p.P690P,FZD6:NM_003506:exon7:c.G2070A:p.P690P,FZD6:NM_001164616:exon8:c.G1974A:p.P658P RS1053917 Methylation levels at chr8:104380616-104380666 [hg18 coord, probe cg21975377] in Caudal pons
8 104394744 2 CTHRC1 T C exonic synonymous SNV CTHRC1:NM_001256099:exon4:c.T606C:p.G202G,CTHRC1:NM_138455:exon4:c.T648C:p.G216G RS3098233 LDL cholesterol:Gene expression of WDSOF1 [probe 3110341] in peripheral blood mononuclear cells:Premature ovarian failure
8 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 117864217 1 RAD21 A G exonic synonymous SNV RAD21:NM_006265:exon11:c.T1440C:p.A480A
8 118819578 2 EXT1 C T exonic synonymous SNV EXT1:NM_000127:exon9:c.G1761A:p.E587E RS7837891 HOMA-B:Triglycerides change with statins:Obesity with early age of onset (age >2):Salmonella-induced pyroptosis
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 121530190 2 MTBP A G exonic synonymous SNV MTBP:NM_022045:exon19:c.A2346G:p.E782E RS13258848 HOMA-IR:Cystatin C in serum:Comorbid depressive syndrome and alcohol dependence:Gene expression of MTBP (probeID ILMN_1660222) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MTBP (probeID ILMN_1660222) in temporal cortex in Alzheimer's disease cases and controls:Years of education
8 123963996 1 ZHX2 C T exonic synonymous SNV ZHX2:NM_014943:exon3:c.C246T:p.Y82Y
8 123964038 1 ZHX2 T C exonic synonymous SNV ZHX2:NM_014943:exon3:c.T288C:p.H96H RS4871332 LDL cholesterol
8 123964767 1 ZHX2 G A exonic synonymous SNV ZHX2:NM_014943:exon3:c.G1017A:p.Q339Q RS16897795 LDL cholesterol
8 123966114 1 ZHX2 G A exonic synonymous SNV ZHX2:NM_014943:exon3:c.G2364A:p.S788S RS12548759 LDL cholesterol
8 123966159 2 ZHX2 G C exonic synonymous SNV ZHX2:NM_014943:exon3:c.G2409C:p.A803A RS3802265 Cystatin C in serum:Triglycerides
8 124357253 1 ATAD2 G A exonic synonymous SNV ATAD2:NM_014109:exon19:c.C2589T:p.H863H RS16898247 Chronic kidney disease:Urinary albumin-to-creatinine ratio:Birth weight
8 124360487 1 ATAD2 G A exonic synonymous SNV ATAD2:NM_014109:exon15:c.C1833T:p.H611H
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 124818447 1 FAM91A1 C G exonic synonymous SNV FAM91A1:NM_001317917:exon20:c.C1284G:p.L428L,FAM91A1:NM_001317918:exon20:c.C2010G:p.L670L,FAM91A1:NM_144963:exon20:c.C2010G:p.L670L
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 131140285 1 ASAP1 G A exonic synonymous SNV ASAP1:NM_018482:exon16:c.C1269T:p.F423F,ASAP1:NM_001247996:exon17:c.C1248T:p.F416F
8 132982824 2 EFR3A A G exonic nonsynonymous SNV EFR3A:NM_001323553:exon10:c.A985G:p.N329D,EFR3A:NM_001323554:exon10:c.A985G:p.N329D,EFR3A:NM_001323555:exon10:c.A985G:p.N329D,EFR3A:NM_001323556:exon10:c.A985G:p.N329D,EFR3A:NM_001323557:exon10:c.A985G:p.N329D,EFR3A:NM_001323558:exon10:c.A1093G:p.N365D,EFR3A:NM_015137:exon10:c.A1093G:p.N365D RS1051221 Tardive dyskinesia:LDL cholesterol change with statins:Total cholesterol:Diastolic blood pressure (DBP):Gene expression of EFR3A (ENSG00000132294) in dendritic cells:Mitral annular calcium:Adiponectin levels
8 133844508 1 PHF20L1 C T exonic synonymous SNV PHF20L1:NM_001277196:exon14:c.C1695T:p.L565L,PHF20L1:NM_016018:exon15:c.C1773T:p.L591L RS16904746 Chronic kidney disease:Serum creatinine:Gene expression of LRRC6 in peripheral blood monocytes:Height:Gene expression of TG in normal prepouch ileum
8 134488007 2 ST3GAL1 G A exonic synonymous SNV ST3GAL1:NM_003033:exon4:c.C261T:p.T87T,ST3GAL1:NM_173344:exon5:c.C261T:p.T87T RS2230542 Major depressive disorder (narrow definition):Major depressive disorder (narrow definition) (males):Major depressive disorder (narrow definition) (females):HDL cholesterol:Waist hip ratio:Years of education:Birth weight:Parkinson's disease:College completion
8 141461062 1 TRAPPC9 G A exonic synonymous SNV TRAPPC9:NM_001160372:exon2:c.C411T:p.N137N,TRAPPC9:NM_001321646:exon2:c.C411T:p.N137N,TRAPPC9:NM_031466:exon2:c.C705T:p.N235N RS3735803 HOMA-B:Fasting blood glucose:Body mass index (BMI):PROP taste detection threshold:Acute lung injury following major trauma
8 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 144392368 1 TOP1MT G A exonic nonsynonymous SNV TOP1MT:NM_001258447:exon13:c.C1279T:p.R427W,TOP1MT:NM_052963:exon13:c.C1573T:p.R525W,TOP1MT:NM_001258446:exon14:c.C1279T:p.R427W RS2293925 Adiponectin levels:Gene expression of TOP1MT (probeID ILMN_2405628) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TOP1MT (probeID ILMN_2405628) in cerebellum in Alzheimer's disease cases and controls
8 144403485 1 TOP1MT G C exonic synonymous SNV TOP1MT:NM_001258447:exon8:c.C738G:p.R246R,TOP1MT:NM_052963:exon8:c.C1032G:p.R344R,TOP1MT:NM_001258446:exon9:c.C738G:p.R246R
8 144406705 1 TOP1MT C T exonic nonsynonymous SNV TOP1MT:NM_001258447:exon6:c.G472A:p.V158I,TOP1MT:NM_052963:exon6:c.G766A:p.V256I,TOP1MT:NM_001258446:exon7:c.G472A:p.V158I RS11544484 Schizophrenia:HDL cholesterol:Neuroblastoma (brain cancer):Gene expression of TOP1MT in blood:Gene expression of ZNF696 in blood:Variant Creutzfeldt-Jakob disease:Gene expression of TOP1MT (probeID ILMN_2405628) in cerebellum in Alzheimer's disease cases and controls:Gene expression of TOP1MT (probeID ILMN_2405628) in temporal cortex in Alzheimer's disease cases and controls:Adiponectin levels
8 144642881 1 GSDMD G A exonic synonymous SNV GSDMD:NM_024736:exon4:c.G519A:p.T173T,GSDMD:NM_001166237:exon7:c.G519A:p.T173T
8 144642932 1 GSDMD G A exonic synonymous SNV GSDMD:NM_024736:exon4:c.G570A:p.T190T,GSDMD:NM_001166237:exon7:c.G570A:p.T190T
8 144644405 1 GSDMD G A exonic synonymous SNV GSDMD:NM_024736:exon9:c.G1023A:p.P341P,GSDMD:NM_001166237:exon12:c.G1023A:p.P341P
8 144671244 2 EEF1D C A exonic synonymous SNV EEF1D:NM_001130053:exon3:c.G1008T:p.R336R,EEF1D:NM_032378:exon3:c.G1008T:p.R336R
8 144671685 2 EEF1D G C exonic nonsynonymous SNV EEF1D:NM_001130053:exon3:c.C567G:p.D189E,EEF1D:NM_032378:exon3:c.C567G:p.D189E
8 144671922 2 EEF1D G A exonic synonymous SNV EEF1D:NM_001130053:exon3:c.C330T:p.R110R,EEF1D:NM_032378:exon3:c.C330T:p.R110R RS3812448 Gene expression of NAPRT1 [probe 226707_at] in lymphoblastoid cell lines:Methylation levels at chr8:144732194-144732244 [hg18 coord, probe cg15537850] in Cerebellum:Gene expression of NAPRT1 in Frontal cortex:Gene expression of NAPRT1 in Caudal pons:Gene expression of NAPRT1 in Temporal cortex:Microalbuminuria:Infant head circumference:Gene expression of NAPRT1 (probeID ILMN_1710752) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of NAPRT1 (probeID ILMN_1710752) in whole blood:Gene expression of NAPRT1 (probeID ILMN_1710752) in cerebellum in Alzheimer's disease cases and controls
8 144681777 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 144688736 1 PYCR3 C G exonic nonsynonymous SNV PYCR3:NM_001329866:exon4:c.G426C:p.K142N,PYCR3:NM_023078:exon4:c.G486C:p.K162N
8 144697041 1 TSTA3 A G exonic synonymous SNV TSTA3:NM_001317783:exon4:c.T324C:p.F108F,TSTA3:NM_003313:exon4:c.T306C:p.F102F RS1049832 Total cholesterol:LDL cholesterol:Urinary albumin-to-creatinine ratio
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 144775871 2 ZNF707 C A exonic nonsynonymous SNV ZNF707:NM_001288808:exon4:c.C179A:p.P60H,ZNF707:NM_001288809:exon4:c.C179A:p.P60H,ZNF707:NM_001100599:exon5:c.C287A:p.P96H,ZNF707:NM_001100598:exon6:c.C287A:p.P96H,ZNF707:NM_001288806:exon6:c.C287A:p.P96H,ZNF707:NM_001288807:exon6:c.C68A:p.P23H,ZNF707:NM_173831:exon7:c.C287A:p.P96H,ZNF707:NM_001288805:exon8:c.C287A:p.P96H RS6987308 HOMA-IR:HOMA-B:Fasting insulin:Serum creatinine:Birth weight
8 144808747 1 FAM83H G A exonic synonymous SNV FAM83H:NM_198488:exon5:c.C2884T:p.L962L
8 144809804 2 FAM83H G A exonic synonymous SNV FAM83H:NM_198488:exon5:c.C1827T:p.Y609Y
8 144811338 2 FAM83H C G exonic nonsynonymous SNV FAM83H:NM_198488:exon3:c.G603C:p.Q201H
8 144874554 2 SCRIB T C exonic synonymous SNV SCRIB:NM_015356:exon32:c.A4350G:p.P1450P,SCRIB:NM_182706:exon32:c.A4350G:p.P1450P
8 144877654 1 SCRIB T G exonic nonsynonymous SNV SCRIB:NM_015356:exon25:c.A3650C:p.H1217P,SCRIB:NM_182706:exon25:c.A3650C:p.H1217P
8 144885580 2 SCRIB A G exonic synonymous SNV SCRIB:NM_015356:exon24:c.T3576C:p.F1192F,SCRIB:NM_182706:exon24:c.T3576C:p.F1192F
8 144889172 2 SCRIB A G exonic synonymous SNV SCRIB:NM_015356:exon17:c.T2190C:p.T730T,SCRIB:NM_182706:exon17:c.T2190C:p.T730T RS10866915 Rheumatoid arthritis:Total cholesterol:LDL cholesterol:Salmonella-induced pyroptosis
8 144890873 2 SCRIB A T exonic nonsynonymous SNV SCRIB:NM_015356:exon15:c.T2021A:p.V674E,SCRIB:NM_182706:exon15:c.T2021A:p.V674E
8 144894496 2 SCRIB G A exonic synonymous SNV SCRIB:NM_015356:exon9:c.C846T:p.T282T,SCRIB:NM_182706:exon9:c.C846T:p.T282T RS4875060 Hip bone mineral density (BMD):Irritible bowel syndrome:Premature ovarian failure:Gene expression of ZNF707 [probe ILMN_20149] in osteoblasts treated with pge-2:Hypertension (early onset hypertension):Salmonella-induced pyroptosis
8 144940300 1 EPPK1 G A exonic synonymous SNV EPPK1:NM_031308:exon2:c.C7122T:p.R2374R
8 144990528 2 PLEC A G exonic synonymous SNV PLEC:NM_201378:exon32:c.T13419C:p.A4473A,PLEC:NM_201379:exon32:c.T13395C:p.A4465A,PLEC:NM_201380:exon32:c.T13872C:p.A4624A,PLEC:NM_201381:exon32:c.T13365C:p.A4455A,PLEC:NM_201382:exon32:c.T13461C:p.A4487A,PLEC:NM_201383:exon32:c.T13473C:p.A4491A,PLEC:NM_201384:exon32:c.T13461C:p.A4487A,PLEC:NM_000445:exon33:c.T13542C:p.A4514A RS7014582 Differential splicing of PLEC1 [probeset 3157977] in lymphoblastoid cell lines:LDL cholesterol:Serum creatinine:Total cholesterol:LDL cholesterol:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Bipolar disorder:Gene expression of GRINA (probeID ILMN_2370872) in cerebellum in Alzheimer's disease cases and controls:Gene expression of GRINA (probeID ILMN_2370872) in temporal cortex in Alzheimer's disease cases and controls
8 144992103 2 PLEC T C exonic synonymous SNV PLEC:NM_201378:exon32:c.A11844G:p.T3948T,PLEC:NM_201379:exon32:c.A11820G:p.T3940T,PLEC:NM_201380:exon32:c.A12297G:p.T4099T,PLEC:NM_201381:exon32:c.A11790G:p.T3930T,PLEC:NM_201382:exon32:c.A11886G:p.T3962T,PLEC:NM_201383:exon32:c.A11898G:p.T3966T,PLEC:NM_201384:exon32:c.A11886G:p.T3962T,PLEC:NM_000445:exon33:c.A11967G:p.T3989T RS6558406 Differential exon level expression of PARP10 [probe 3158043] in peripheral blood mononuclear cells:Differential exon level expression of PLEC1 [probe 3157977] in peripheral blood mononuclear cells:Differential exon level expression of PLEC1 [probe 3157977] in brain cortex:Serum creatinine:LDL cholesterol:Total cholesterol:Height:Microalbuminuria:Gene expression of MAF1///KIAA1875 in blood:Gene expression of PLEC1 in blood:Gene expression of GRINA in blood:Gene expression of PARP10 in blood:Gene expression of GRINA (probeID ILMN_2370872) in temporal cortex in non-Alzheimer's disease samples:Gene expression of GRINA (probeID ILMN_2370872) in cerebellum in non-Alzheimer's disease samples:Gene expression of GRINA (probeID ILMN_2370872) in cerebellum in Alzheimer's disease cases:Gene expression of GRINA (probeID ILMN_2370872) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GRINA (probeID ILMN_2370872) in cerebellum in Alzheimer's disease cases and controls
8 144992361 2 PLEC T C exonic synonymous SNV PLEC:NM_201378:exon32:c.A11586G:p.P3862P,PLEC:NM_201379:exon32:c.A11562G:p.P3854P,PLEC:NM_201380:exon32:c.A12039G:p.P4013P,PLEC:NM_201381:exon32:c.A11532G:p.P3844P,PLEC:NM_201382:exon32:c.A11628G:p.P3876P,PLEC:NM_201383:exon32:c.A11640G:p.P3880P,PLEC:NM_201384:exon32:c.A11628G:p.P3876P,PLEC:NM_000445:exon33:c.A11709G:p.P3903P
8 144993324 2 PLEC C T exonic synonymous SNV PLEC:NM_201378:exon32:c.G10623A:p.T3541T,PLEC:NM_201379:exon32:c.G10599A:p.T3533T,PLEC:NM_201380:exon32:c.G11076A:p.T3692T,PLEC:NM_201381:exon32:c.G10569A:p.T3523T,PLEC:NM_201382:exon32:c.G10665A:p.T3555T,PLEC:NM_201383:exon32:c.G10677A:p.T3559T,PLEC:NM_201384:exon32:c.G10665A:p.T3555T,PLEC:NM_000445:exon33:c.G10746A:p.T3582T RS6984820 Arthritis including non-Rheumatoid:Longstanding arthritis:LDL cholesterol:Differential exon level expression of PARP10 [probe 3158043] in peripheral blood mononuclear cells:Differential exon level expression of PLEC1 [probe 3157977] in brain cortex:Differential exon level expression of PLEC1 [probe 3157977] in peripheral blood mononuclear cells:Serum creatinine:Total cholesterol:LDL cholesterol:Height:Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene expression of KIAA1875 in blood:Gene expression of MAF1///KIAA1875 in blood:Gene expression of PARP10 in blood:Gene expression of [probe 6590240 centered at chr8:145011660] in blood:Gene expression of GRINA in blood:Gene expression of PLEC1 in blood:Bipolar disorder:Gene expression of GRINA (probeID ILMN_2370872) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of GRINA (probeID ILMN_2370872) in temporal cortex in Alzheimer's disease cases:Gene expression of GRINA (probeID ILMN_2370872) in cerebellum in Alzheimer's disease cases:Paternal transmission distortion:Gene expression of GRINA (probeID ILMN_2370872) in cerebellum in non-Alzheimer's disease samples:Gene expression of GRINA (probeID ILMN_2370872) in cerebellum in Progressive Supranuclear Palsy cases:Transmission distortion:Gene expression of GRINA (probeID ILMN_2370872) in cerebellum in Alzheimer's disease cases and controls:Gene expression of GRINA (probeID ILMN_2370872) in temporal cortex in Alzheimer's disease cases and controls
8 144995736 2 PLEC G A exonic synonymous SNV PLEC:NM_201378:exon32:c.C8211T:p.N2737N,PLEC:NM_201379:exon32:c.C8187T:p.N2729N,PLEC:NM_201380:exon32:c.C8664T:p.N2888N,PLEC:NM_201381:exon32:c.C8157T:p.N2719N,PLEC:NM_201382:exon32:c.C8253T:p.N2751N,PLEC:NM_201383:exon32:c.C8265T:p.N2755N,PLEC:NM_201384:exon32:c.C8253T:p.N2751N,PLEC:NM_000445:exon33:c.C8334T:p.N2778N
8 144996029 2 PLEC A G exonic nonsynonymous SNV PLEC:NM_201378:exon32:c.T7918C:p.S2640P,PLEC:NM_201379:exon32:c.T7894C:p.S2632P,PLEC:NM_201380:exon32:c.T8371C:p.S2791P,PLEC:NM_201381:exon32:c.T7864C:p.S2622P,PLEC:NM_201382:exon32:c.T7960C:p.S2654P,PLEC:NM_201383:exon32:c.T7972C:p.S2658P,PLEC:NM_201384:exon32:c.T7960C:p.S2654P,PLEC:NM_000445:exon33:c.T8041C:p.S2681P
8 144996408 2 PLEC T G exonic synonymous SNV PLEC:NM_201378:exon32:c.A7539C:p.A2513A,PLEC:NM_201379:exon32:c.A7515C:p.A2505A,PLEC:NM_201380:exon32:c.A7992C:p.A2664A,PLEC:NM_201381:exon32:c.A7485C:p.A2495A,PLEC:NM_201382:exon32:c.A7581C:p.A2527A,PLEC:NM_201383:exon32:c.A7593C:p.A2531A,PLEC:NM_201384:exon32:c.A7581C:p.A2527A,PLEC:NM_000445:exon33:c.A7662C:p.A2554A
8 144997023 1 PLEC C T exonic synonymous SNV PLEC:NM_201378:exon31:c.G7032A:p.A2344A,PLEC:NM_201379:exon31:c.G7008A:p.A2336A,PLEC:NM_201380:exon31:c.G7485A:p.A2495A,PLEC:NM_201381:exon31:c.G6978A:p.A2326A,PLEC:NM_201382:exon31:c.G7074A:p.A2358A,PLEC:NM_201383:exon31:c.G7086A:p.A2362A,PLEC:NM_201384:exon31:c.G7074A:p.A2358A,PLEC:NM_000445:exon32:c.G7155A:p.A2385A
8 144997656 2 PLEC C T exonic synonymous SNV PLEC:NM_201378:exon31:c.G6399A:p.A2133A,PLEC:NM_201379:exon31:c.G6375A:p.A2125A,PLEC:NM_201380:exon31:c.G6852A:p.A2284A,PLEC:NM_201381:exon31:c.G6345A:p.A2115A,PLEC:NM_201382:exon31:c.G6441A:p.A2147A,PLEC:NM_201383:exon31:c.G6453A:p.A2151A,PLEC:NM_201384:exon31:c.G6441A:p.A2147A,PLEC:NM_000445:exon32:c.G6522A:p.A2174A
8 144997927 2 PLEC G A exonic nonsynonymous SNV PLEC:NM_201378:exon31:c.C6128T:p.A2043V,PLEC:NM_201379:exon31:c.C6104T:p.A2035V,PLEC:NM_201380:exon31:c.C6581T:p.A2194V,PLEC:NM_201381:exon31:c.C6074T:p.A2025V,PLEC:NM_201382:exon31:c.C6170T:p.A2057V,PLEC:NM_201383:exon31:c.C6182T:p.A2061V,PLEC:NM_201384:exon31:c.C6170T:p.A2057V,PLEC:NM_000445:exon32:c.C6251T:p.A2084V
8 144998169 2 PLEC C T exonic synonymous SNV PLEC:NM_201378:exon31:c.G5886A:p.A1962A,PLEC:NM_201379:exon31:c.G5862A:p.A1954A,PLEC:NM_201380:exon31:c.G6339A:p.A2113A,PLEC:NM_201381:exon31:c.G5832A:p.A1944A,PLEC:NM_201382:exon31:c.G5928A:p.A1976A,PLEC:NM_201383:exon31:c.G5940A:p.A1980A,PLEC:NM_201384:exon31:c.G5928A:p.A1976A,PLEC:NM_000445:exon32:c.G6009A:p.A2003A
8 144999621 2 PLEC C T exonic synonymous SNV PLEC:NM_201378:exon31:c.G4434A:p.A1478A,PLEC:NM_201379:exon31:c.G4410A:p.A1470A,PLEC:NM_201380:exon31:c.G4887A:p.A1629A,PLEC:NM_201381:exon31:c.G4380A:p.A1460A,PLEC:NM_201382:exon31:c.G4476A:p.A1492A,PLEC:NM_201383:exon31:c.G4488A:p.A1496A,PLEC:NM_201384:exon31:c.G4476A:p.A1492A,PLEC:NM_000445:exon32:c.G4557A:p.A1519A
8 144999642 2 PLEC A C exonic synonymous SNV PLEC:NM_201378:exon31:c.T4413G:p.A1471A,PLEC:NM_201379:exon31:c.T4389G:p.A1463A,PLEC:NM_201380:exon31:c.T4866G:p.A1622A,PLEC:NM_201381:exon31:c.T4359G:p.A1453A,PLEC:NM_201382:exon31:c.T4455G:p.A1485A,PLEC:NM_201383:exon31:c.T4467G:p.A1489A,PLEC:NM_201384:exon31:c.T4455G:p.A1485A,PLEC:NM_000445:exon32:c.T4536G:p.A1512A
8 144999684 2 PLEC A G exonic synonymous SNV PLEC:NM_201378:exon31:c.T4371C:p.A1457A,PLEC:NM_201379:exon31:c.T4347C:p.A1449A,PLEC:NM_201380:exon31:c.T4824C:p.A1608A,PLEC:NM_201381:exon31:c.T4317C:p.A1439A,PLEC:NM_201382:exon31:c.T4413C:p.A1471A,PLEC:NM_201383:exon31:c.T4425C:p.A1475A,PLEC:NM_201384:exon31:c.T4413C:p.A1471A,PLEC:NM_000445:exon32:c.T4494C:p.A1498A
8 145001031 2 PLEC T C exonic nonsynonymous SNV PLEC:NM_201378:exon30:c.A3923G:p.H1308R,PLEC:NM_201379:exon30:c.A3899G:p.H1300R,PLEC:NM_201380:exon30:c.A4376G:p.H1459R,PLEC:NM_201381:exon30:c.A3869G:p.H1290R,PLEC:NM_201382:exon30:c.A3965G:p.H1322R,PLEC:NM_201383:exon30:c.A3977G:p.H1326R,PLEC:NM_201384:exon30:c.A3965G:p.H1322R,PLEC:NM_000445:exon31:c.A4046G:p.H1349R
8 145007187 2 PLEC G A exonic nonsynonymous SNV PLEC:NM_201378:exon14:c.C1469T:p.A490V,PLEC:NM_201379:exon14:c.C1445T:p.A482V,PLEC:NM_201380:exon14:c.C1922T:p.A641V,PLEC:NM_201381:exon14:c.C1415T:p.A472V,PLEC:NM_201382:exon14:c.C1511T:p.A504V,PLEC:NM_201383:exon14:c.C1523T:p.A508V,PLEC:NM_201384:exon14:c.C1511T:p.A504V,PLEC:NM_000445:exon15:c.C1592T:p.A531V RS11136336 Differential splicing of PLEC1 [probeset 3157977] in lymphoblastoid cell lines:Differential exon level expression of PARP10 [probe 3158043] in peripheral blood mononuclear cells:Differential exon level expression of PLEC1 [probe 3157977] in peripheral blood mononuclear cells:Differential exon level expression of PLEC1 [probe 3157977] in brain cortex:Total cholesterol:LDL cholesterol:Height:Paternal transmission distortion:Gene expression of GRINA (probeID ILMN_2370872) in cerebellum in non-Alzheimer's disease samples:Transmission distortion:Gene expression of GRINA (probeID ILMN_2370872) in cerebellum in Alzheimer's disease cases and controls:Maternal transmission distortion:Gene expression of GRINA (probeID ILMN_2370872) in temporal cortex in non-Alzheimer's disease samples:Gene expression of GRINA (probeID ILMN_2370872) in cerebellum in Alzheimer's disease cases:Hypertension (early onset hypertension):Advanced age-related macular degeneration (geographic atrophy):Gene expression of GRINA (probeID ILMN_2370872) in temporal cortex in Alzheimer's disease cases:Gene expression of GRINA (probeID ILMN_2370872) in temporal cortex in Alzheimer's disease cases and controls
8 145008560 2 PLEC A G exonic synonymous SNV PLEC:NM_201378:exon11:c.T1053C:p.D351D,PLEC:NM_201379:exon11:c.T1029C:p.D343D,PLEC:NM_201380:exon11:c.T1506C:p.D502D,PLEC:NM_201381:exon11:c.T999C:p.D333D,PLEC:NM_201382:exon11:c.T1095C:p.D365D,PLEC:NM_201383:exon11:c.T1107C:p.D369D,PLEC:NM_201384:exon11:c.T1095C:p.D365D,PLEC:NM_000445:exon12:c.T1176C:p.D392D
8 145011204 2 PLEC A G exonic synonymous SNV PLEC:NM_201378:exon5:c.T336C:p.A112A,PLEC:NM_201379:exon5:c.T312C:p.A104A,PLEC:NM_201380:exon5:c.T789C:p.A263A,PLEC:NM_201381:exon5:c.T282C:p.A94A,PLEC:NM_201382:exon5:c.T378C:p.A126A,PLEC:NM_201383:exon5:c.T390C:p.A130A,PLEC:NM_201384:exon5:c.T378C:p.A126A,PLEC:NM_000445:exon6:c.T459C:p.A153A RS6993938 Arthritis including non-Rheumatoid:Longstanding arthritis:Differential splicing of PLEC1 [probeset 3157977] in lymphoblastoid cell lines:LDL cholesterol:Differential exon level expression of PLEC1 [probe 3157977] in brain cortex:Differential exon level expression of PLEC1 [probe 3157977] in peripheral blood mononuclear cells:Differential exon level expression of PARP10 [probe 3158043] in peripheral blood mononuclear cells:LDL cholesterol:Total cholesterol:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression of PLEC1 in blood:Gene expression of GRINA in blood:Gene expression of MAF1///KIAA1875 in blood:Gene expression of [probe 6590240 centered at chr8:145011660] in blood:Gene expression of PARP10 in blood:Transmission distortion:Hypertension (early onset hypertension):Gene expression of GRINA (probeID ILMN_2370872) in cerebellum in Alzheimer's disease cases and controls:Paternal transmission distortion
8 145057868 2 PARP10 A G exonic nonsynonymous SNV PARP10:NM_001317895:exon7:c.T1925C:p.V642A,PARP10:NM_032789:exon8:c.T1889C:p.V630A
8 145058986 2 PARP10 A G exonic nonsynonymous SNV PARP10:NM_001317895:exon4:c.T1220C:p.L407P,PARP10:NM_032789:exon5:c.T1184C:p.L395P RS11136343 Differential splicing of PLEC1 [probeset 3157977] in lymphoblastoid cell lines:LDL cholesterol:Serum creatinine:Lp-PLA2 activity:LDL cholesterol:Total cholesterol:Height:Urinary albumin-to-creatinine ratio:Microalbuminuria:Bipolar disorder:Gene expression of GRINA (probeID ILMN_2370872) in cerebellum in Alzheimer's disease cases:Gene expression of GRINA (probeID ILMN_2370872) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GRINA (probeID ILMN_2370872) in temporal cortex in non-Alzheimer's disease samples:Gene expression of GRINA (probeID ILMN_2370872) in cerebellum in Alzheimer's disease cases and controls:Gene expression of GRINA (probeID ILMN_2370872) in temporal cortex in Alzheimer's disease cases:Gene expression of GRINA (probeID ILMN_2370872) in cerebellum in non-Alzheimer's disease samples
8 145059425 2 PARP10 T C exonic nonsynonymous SNV PARP10:NM_001317895:exon4:c.A781G:p.I261V,PARP10:NM_032789:exon5:c.A745G:p.I249V RS11136344 Arthritis including non-Rheumatoid:Longstanding arthritis:Differential splicing of PLEC1 [probeset 3157977] in lymphoblastoid cell lines:LDL cholesterol:Differential exon level expression of PLEC1 [probe 3157977] in peripheral blood mononuclear cells:Differential exon level expression of PARP10 [probe 3158043] in peripheral blood mononuclear cells:Differential exon level expression of PLEC1 [probe 3157977] in brain cortex:Serum creatinine:Gene expression of GRINA in peripheral blood monocytes:Gene expression of PARP10 in peripheral blood monocytes:Gene expression of OPLAH in peripheral blood monocytes:Gene expression of NRBP2 in peripheral blood monocytes:LDL cholesterol:Total cholesterol:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression of PLEC1 in blood:Gene expression of PARP10 in blood:Gene expression of GRINA in blood:Gene expression of KIAA1875 in blood:Gene expression of MAF1///KIAA1875 in blood:Gene expression of [probe 6590240 centered at chr8:145011660] in blood:Bipolar disorder:Transmission distortion:Gene expression of GRINA (probeID ILMN_2370872) in temporal cortex in non-Alzheimer's disease samples:Paternal transmission distortion:Gene expression of GRINA (probeID ILMN_2370872) in cerebellum in Alzheimer's disease cases and controls:Maternal transmission distortion:Gene expression of GRINA in normal prepouch ileum:Gene expression of GRINA (probeID ILMN_2370872) in temporal cortex in Alzheimer's disease cases and controls:Hypertension (early onset hypertension):Gene expression of GRINA (probeID ILMN_2370872) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of GRINA (probeID ILMN_2370872) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of GRINA (probeID ILMN_2370872) in cerebellum in non-Alzheimer's disease samples:Gene expression of GRINA (probeID ILMN_2370872) in cerebellum in Alzheimer's disease cases:Gene expression of GRINA (ENSG00000178719) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of GRINA (probeID ILMN_2370872) in temporal cortex in Alzheimer's disease cases
8 145060112 2 PARP10 G A exonic synonymous SNV PARP10:NM_001317895:exon2:c.C249T:p.H83H,PARP10:NM_032789:exon3:c.C213T:p.H71H
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 145107795 2 OPLAH G A exonic synonymous SNV OPLAH:NM_017570:exon22:c.C3027T:p.A1009A
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 145639726 2 SLC39A4 T C exonic nonsynonymous SNV SLC39A4:NM_017767:exon5:c.A994G:p.T332A,SLC39A4:NM_130849:exon6:c.A1069G:p.T357A RS2272662 Cystatin C in serum
8 145640411 2 SLC39A4 A G exonic nonsynonymous SNV SLC39A4:NM_017767:exon3:c.T676C:p.W226R,SLC39A4:NM_130849:exon4:c.T751C:p.W251R RS2977838 Urinary albumin-to-creatinine ratio:Microalbuminuria
8 145641328 1 SLC39A4 C T exonic nonsynonymous SNV SLC39A4:NM_017767:exon1:c.G265A:p.A89T,SLC39A4:NM_130849:exon2:c.G340A:p.A114T RS17855765 Cystatin C in serum:Years of education
8 145641564 1 SLC39A4 T G exonic nonsynonymous SNV SLC39A4:NM_017767:exon1:c.A29C:p.E10A RS2280839 Longstanding arthritis:Arthritis including non-Rheumatoid:Gene expression of VPS28 in blood cells in Celiac disease:Schizophrenia:Cystatin C in serum:Autism with high IQ:Gene expression of VPS28 in blood:Gene expression of LRRC14///LRRC24 in blood:Gene expression of ADCK5///CPSF1///hsa-mir in blood:Gene expression of PPP1R16A///GPT in blood:Gene expression of VPS28 [probeset 218679_s_at] in sputum:Age at death with kuru exposure:Hypertension (early onset hypertension):Gene expression of CPSF1 in normal prepouch ileum:Years of education:Paternal transmission distortion:Transmission distortion
8 145642002 1 SLC39A4 C T exonic nonsynonymous SNV SLC39A4:NM_130849:exon1:c.G172A:p.A58T RS2280838 HOMA-IR:Fasting insulin:Fasting blood glucose
8 145660490 1 TONSL G A exonic synonymous SNV TONSL:NM_013432:exon19:c.C2916T:p.C972C
8 145661320 1 TONSL G A exonic synonymous SNV TONSL:NM_013432:exon17:c.C2496T:p.A832A
8 145661675 1 TONSL G A exonic nonsynonymous SNV TONSL:NM_013432:exon17:c.C2141T:p.A714V RS7830832 Longstanding arthritis:Arthritis including non-Rheumatoid:Gene expression of VPS28 in blood cells in Celiac disease:Autism with high IQ:Gene expression of ADCK5 in blood:Gene expression of PPP1R16A///GPT in blood:Gene expression of ADCK5///CPSF1///hsa-mir in blood:Gene expression of LRRC14///LRRC24 in blood:Gene expression of VPS28 in blood:Gene expression of CPSF1 in normal prepouch ileum:Paternal transmission distortion:Transmission distortion
8 145665516 2 TONSL T C exonic synonymous SNV TONSL:NM_013432:exon11:c.A1368G:p.L456L
8 145665761 2 TONSL G A exonic synonymous SNV TONSL:NM_013432:exon10:c.C1263T:p.A421A RS2229313 Cystatin C in serum:Birth weight:Gene expression of VPS28 (ENSG00000160948) in dendritic cells:Gene expression of CPSF1 in normal prepouch ileum:Gene expression of SLC39A4 (ENSG00000147804) in dendritic cells:Gene expression change of CPSF1 (ENSG00000071894) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of CPSF1 (ENSG00000071894) in dendritic cells treated with Mycobacterium tuberculosis
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 145693720 2 KIFC2 A G exonic synonymous SNV KIFC2:NM_145754:exon8:c.A819G:p.A273A
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 145741168 1 RECQL4 G C exonic nonsynonymous SNV RECQL4:NM_004260:exon6:c.C1238G:p.A413G
8 145741169 1 RECQL4 C T exonic nonsynonymous SNV RECQL4:NM_004260:exon6:c.G1237A:p.A413T
8 145741702 1 RECQL4 C G exonic nonsynonymous SNV RECQL4:NM_004260:exon5:c.G801C:p.E267D
8 145741765 1 RECQL4 G A exonic synonymous SNV RECQL4:NM_004260:exon5:c.C738T:p.S246S RS4244613 HDL cholesterol:College completion:Years of education
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 145747920 2 LRRC24 T G exonic nonsynonymous SNV LRRC24:NM_001024678:exon5:c.A1481C:p.E494A
8 145756170 1 ARHGAP39 G A exonic synonymous SNV ARHGAP39:NM_001308208:exon10:c.C2973T:p.D991D,ARHGAP39:NM_025251:exon10:c.C3066T:p.D1022D,ARHGAP39:NM_001308207:exon11:c.C2973T:p.D991D
8 146033347 2 ZNF517 T C exonic nonsynonymous SNV ZNF517:NM_001317936:exon5:c.T1025C:p.V342A,ZNF517:NM_213605:exon5:c.T1046C:p.V349A
8 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 146068322 1 ZNF7 C T exonic synonymous SNV ZNF7:NM_001349805:exon3:c.C1542T:p.Y514Y,ZNF7:NM_001282797:exon4:c.C1542T:p.Y514Y,ZNF7:NM_001349809:exon4:c.C1893T:p.Y631Y,ZNF7:NM_001282795:exon5:c.C1863T:p.Y621Y,ZNF7:NM_001349806:exon5:c.C1881T:p.Y627Y,ZNF7:NM_001349807:exon5:c.C1827T:p.Y609Y,ZNF7:NM_001349808:exon5:c.C1878T:p.Y626Y,ZNF7:NM_003416:exon5:c.C1830T:p.Y610Y RS9004 Gene expression of RPL8 in CEU lymphoblastoid cell lines:Gene expression of RPL8 [probe 200936_at] in lymphoblastoid cell lines:Cystatin C in serum:Methylation levels at chr8:146024470-146024520 [hg18 coord, probe cg20845050] in Temporal cortex:HDL cholesterol:Gene expression of ZNF7 (probeID ILMN_2137066) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ZNF7 (probeID ILMN_2137066) in cerebellum in Alzheimer's disease cases and controls
8 146076708 1 COMMD5 C T exonic nonsynonymous SNV COMMD5:NM_001081003:exon2:c.G16A:p.A6T,COMMD5:NM_001081004:exon2:c.G16A:p.A6T,COMMD5:NM_001287237:exon2:c.G16A:p.A6T,COMMD5:NM_014066:exon2:c.G16A:p.A6T RS1209879 Gene expression of RPL8 in CEU lymphoblastoid cell lines:Gene expression of RPL8 [probe 200936_at] in lymphoblastoid cell lines:Cystatin C in serum:Methylation levels at chr8:146024470-146024520 [hg18 coord, probe cg20845050] in Temporal cortex:Triglycerides:HDL cholesterol:Gene expression of ZNF7 (probeID ILMN_2137066) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ZNF7 (probeID ILMN_2137066) in cerebellum in Alzheimer's disease cases and controls
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
9 17011 2 WASHC1 T C exonic synonymous SNV WASHC1:NM_182905:exon7:c.A837G:p.P279P
9 17107 2 WASHC1 T C exonic synonymous SNV WASHC1:NM_182905:exon7:c.A741G:p.P247P
9 712060 1 KANK1 G C exonic nonsynonymous SNV KANK1:NM_153186:exon2:c.G820C:p.E274Q,KANK1:NM_015158:exon3:c.G1294C:p.E432Q,KANK1:NM_001256877:exon4:c.G1294C:p.E432Q,KANK1:NM_001256876:exon7:c.G1294C:p.E432Q RS4465020 LDL cholesterol
9 712599 1 KANK1 C T exonic synonymous SNV KANK1:NM_153186:exon2:c.C1359T:p.N453N,KANK1:NM_015158:exon3:c.C1833T:p.N611N,KANK1:NM_001256877:exon4:c.C1833T:p.N611N,KANK1:NM_001256876:exon7:c.C1833T:p.N611N
9 712843 1 KANK1 G A exonic nonsynonymous SNV KANK1:NM_153186:exon2:c.G1603A:p.E535K,KANK1:NM_015158:exon3:c.G2077A:p.E693K,KANK1:NM_001256877:exon4:c.G2077A:p.E693K,KANK1:NM_001256876:exon7:c.G2077A:p.E693K
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 4662426 1 PLPP6 T G exonic synonymous SNV PLPP6:NM_203453:exon1:c.T51G:p.A17A
9 6589230 1 GLDC C T exonic synonymous SNV GLDC:NM_000170:exon12:c.G1545A:p.R515R
9 6610326 1 GLDC C T exonic synonymous SNV GLDC:NM_000170:exon4:c.G501A:p.E167E
9 6984236 1 KDM4C G A exonic nonsynonymous SNV KDM4C:NM_001304340:exon9:c.G643A:p.D215N,KDM4C:NM_001146695:exon10:c.G1186A:p.D396N,KDM4C:NM_001146696:exon10:c.G1252A:p.D418N,KDM4C:NM_001304339:exon10:c.G1186A:p.D396N,KDM4C:NM_015061:exon10:c.G1186A:p.D396N RS2296067 Spine bone mineral density (BMD):Barnes Akathisia Rating Scale:LDL cholesterol:HDL cholesterol:Total cholesterol:Lp-PLA2 activity:Partial epilepsy
9 7103816 1 KDM4C C T exonic synonymous SNV KDM4C:NM_001304340:exon16:c.C1791T:p.D597D,KDM4C:NM_001304339:exon18:c.C2556T:p.D852D,KDM4C:NM_015061:exon18:c.C2556T:p.D852D RS3763651 Triglycerides:Total cholesterol
9 7798518 1 TMEM261 G C exonic nonsynonymous SNV TMEM261:NM_001318059:exon2:c.C308G:p.T103R RS4742410 Birth weight
9 7799606 1 TMEM261 C A exonic synonymous SNV TMEM261:NM_001318058:exon1:c.G129T:p.L43L,TMEM261:NM_001318059:exon1:c.G129T:p.L43L,TMEM261:NM_033428:exon1:c.G129T:p.L43L RS14059 Fasting insulin:HOMA-IR:HOMA-B:Gene expression of C9orf123 [probe ILMN_1979] in osteoblasts treated with BMP2:Gene expression of C9orf123 [transcript NM_033428, probe A_32_P134846] in liver:Gene expression of C9orf123 in blood:Advanced age-related macular degeneration:Refractive error:Advanced age-related macular degeneration (geographic atrophy):Hypertension (early onset hypertension)
9 7799653 1 TMEM261 G T exonic nonsynonymous SNV TMEM261:NM_001318058:exon1:c.C82A:p.P28T,TMEM261:NM_001318059:exon1:c.C82A:p.P28T,TMEM261:NM_033428:exon1:c.C82A:p.P28T
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 17342383 2 CNTLN C T exonic synonymous SNV CNTLN:NM_017738:exon12:c.C1827T:p.D609D
9 19058425 1 HAUS6 G A exonic synonymous SNV HAUS6:NM_001270890:exon16:c.C2235T:p.L745L,HAUS6:NM_017645:exon16:c.C2340T:p.L780L
9 19063108 1 HAUS6 T C exonic synonymous SNV HAUS6:NM_001270890:exon14:c.A1422G:p.L474L,HAUS6:NM_017645:exon14:c.A1527G:p.L509L
9 19346451 1 DENND4C G A exonic synonymous SNV DENND4C:NM_017925:exon22:c.G3537A:p.R1179R,DENND4C:NM_001330640:exon23:c.G3684A:p.R1228R
9 20866974 2 FOCAD C G exonic nonsynonymous SNV FOCAD:NM_017794:exon20:c.C2153G:p.T718S
9 21333254 1 KLHL9 T C exonic synonymous SNV KLHL9:NM_018847:exon1:c.A1605G:p.Q535Q
9 21854740 1 MTAP C T exonic synonymous SNV MTAP:NM_002451:exon6:c.C561T:p.R187R RS10965163 Height:Refractive error:Advanced age-related macular degeneration:Paternal transmission distortion
9 32425910 1 ACO1 A G exonic synonymous SNV ACO1:NM_002197:exon11:c.A1263G:p.E421E,ACO1:NM_001278352:exon12:c.A1263G:p.E421E RS3780473 Rheumatoid arthritis:Longstanding arthritis:HDL cholesterol:Total cholesterol:Chronic kidney disease:Gene expression of DDX58 in blood:Mitral annular calcium:Gene expression of ACO1 in normal prepouch ileum
9 33026572 1 DNAJA1 T C exonic synonymous SNV DNAJA1:NM_001539:exon2:c.T90C:p.A30A RS20583 Fasting blood glucose:Gene expression of APTX in blood:Gene expression of SMU1 in blood:Resistance to kuru in aged women despite likely exposure
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 34017106 2 UBAP2 C T exonic nonsynonymous SNV UBAP2:NM_018449:exon2:c.G41A:p.R14Q RS1785506 2 hour glucose:HOMA-B:HOMA-IR:Fasting insulin:Serum creatinine:Height:Urinary albumin-to-creatinine ratio:Aortic valve calcium:Infant head circumference:Parkinson's disease:Obesity with early age of onset (age >2):Hypertension (early onset hypertension):Advanced age-related macular degeneration
9 34107504 1 DCAF12 C T exonic synonymous SNV DCAF12:NM_015397:exon3:c.G393A:p.R131R
9 34372783 2 KIAA1161 G C exonic unknown UNKNOWN
9 34372873 2 KIAA1161 C G exonic unknown UNKNOWN
9 34372931 1 KIAA1161 T A exonic unknown UNKNOWN RS2297776 Urinary albumin-to-creatinine ratio:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Parkinson's disease
9 35107765 2 FAM214B C A exonic synonymous SNV FAM214B:NM_001317991:exon3:c.G507T:p.G169G,FAM214B:NM_025182:exon3:c.G507T:p.G169G
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 35606884 2 TESK1 G A exonic nonsynonymous SNV TESK1:NM_001318230:exon4:c.G44A:p.C15Y
9 35660990 1 CCDC107 A G exonic nonsynonymous SNV CCDC107:NM_174923:exon5:c.A658G:p.I220V,CCDC107:NM_001195200:exon6:c.A577G:p.I193V RS1339374 Schizophrenia:Autism:Gene expression of CA9 [probe ILMN_26612] in osteoblasts with treatment interaction:Gene expression of TPM2 in blood:Gene expression of CA9///TPM2 in blood:Bipolar disorder:Gene expression change of MSMP (ENSG00000215183) in dendritic cells after treatment with Mycobacterium tuberculosis:College completion:Gene expression of MSMP (ENSG00000215183) in dendritic cells treated with Mycobacterium tuberculosis
9 35674053 1 CA9 G A exonic nonsynonymous SNV CA9:NM_001216:exon1:c.G97A:p.V33M RS2071676 HOMA-B
9 35706058 1 TLN1 G A exonic synonymous SNV TLN1:NM_006289:exon41:c.C5412T:p.T1804T
9 35749845 1 RGP1 G C exonic synonymous SNV RGP1:NM_001080496:exon2:c.G93C:p.P31P RS2236288 LDL cholesterol:Height:Body mass index (BMI):Microalbuminuria
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 37429814 1 GRHPR A G exonic synonymous SNV GRHPR:NM_012203:exon6:c.A579G:p.A193A RS309458 LDL cholesterol
9 37441808 2 ZBTB5 A G exonic synonymous SNV ZBTB5:NM_014872:exon2:c.T741C:p.D247D
9 37493588 1 POLR1E C T exonic synonymous SNV POLR1E:NM_022490:exon6:c.C435T:p.T145T,POLR1E:NM_001282766:exon7:c.C225T:p.T75T RS10758434 Gene expression of PAF53 in CHB-JPT lymphoblastoid cell lines:Gene expression of POLR1E [probe 218997_at] in lymphoblastoid cell lines:HOMA-B:Gene expression of POLR1E in normal prepouch ileum
9 37500895 1 POLR1E T C exonic synonymous SNV POLR1E:NM_022490:exon10:c.T945C:p.T315T,POLR1E:NM_001282766:exon11:c.T735C:p.T245T RS2277161 Gene expression of PAF53 in CHB-JPT lymphoblastoid cell lines:HOMA-B:Gene expression of POLR1E in normal prepouch ileum
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 37521777 1 FBXO10 G A exonic synonymous SNV FBXO10:NM_012166:exon8:c.C1989T:p.N663N
9 37782111 2 EXOSC3 C T exonic synonymous SNV EXOSC3:NM_016042:exon3:c.G498A:p.Q166Q
9 37974743 1 SHB T C exonic synonymous SNV SHB:NM_003028:exon3:c.A930G:p.S310S RS1138374 Coronary artery disease (CAD), combined control dataset, gender differentiated:Major depressive disorder:Gene expression of SHB in peripheral blood monocytes:Gene expression of RNF186 in peripheral blood monocytes:Bipolar disorder:Infant head circumference:Years of education:Mitral annular calcium
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 43822704 1 CNTNAP3B G A exonic nonsynonymous SNV CNTNAP3B:NM_001201380:exon8:c.G1258A:p.V420I
9 43885012 2 CNTNAP3B A G exonic nonsynonymous SNV CNTNAP3B:NM_001201380:exon15:c.A2305G:p.T769A
9 49022700 2
9 70466490 2
9 71650752 2 FXN A G exonic synonymous SNV FXN:NM_000144:exon1:c.A54G:p.P18P,FXN:NM_001161706:exon1:c.A54G:p.P18P,FXN:NM_181425:exon1:c.A54G:p.P18P
9 71843023 2 TJP2 C A exonic nonsynonymous SNV TJP2:NM_001170415:exon9:c.C1458A:p.D486E,TJP2:NM_001170416:exon9:c.C1539A:p.D513E,TJP2:NM_004817:exon9:c.C1446A:p.D482E,TJP2:NM_201629:exon9:c.C1446A:p.D482E,TJP2:NM_001170414:exon10:c.C1377A:p.D459E RS2309428 Fasting blood glucose:Nonalcoholic fatty liver disease (Alanine aminotransferase (ALT)):Nonalcoholic fatty liver disease (Aspartate aminotransferase (AST))
9 71851877 1 TJP2 G A exonic nonsynonymous SNV TJP2:NM_001170415:exon14:c.G2016A:p.M672I,TJP2:NM_001170416:exon14:c.G2097A:p.M699I,TJP2:NM_004817:exon14:c.G2004A:p.M668I,TJP2:NM_201629:exon14:c.G2004A:p.M668I,TJP2:NM_001170414:exon15:c.G1935A:p.M645I
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 74305020 1 TMEM2 C T exonic nonsynonymous SNV TMEM2:NM_001135820:exon21:c.G3650A:p.G1217D,TMEM2:NM_001349784:exon22:c.G1925A:p.G642D,TMEM2:NM_013390:exon22:c.G3839A:p.G1280D RS17475375 Comorbid depressive syndrome and alcohol dependence
9 74319576 1 TMEM2 A T exonic synonymous SNV TMEM2:NM_001135820:exon17:c.T2940A:p.G980G,TMEM2:NM_001349784:exon18:c.T1215A:p.G405G,TMEM2:NM_013390:exon18:c.T3129A:p.G1043G RS25696 Fasting insulin:Birth weight
9 74319677 1 TMEM2 T C exonic nonsynonymous SNV TMEM2:NM_001135820:exon17:c.A2839G:p.I947V,TMEM2:NM_001349784:exon18:c.A1114G:p.I372V,TMEM2:NM_013390:exon18:c.A3028G:p.I1010V RS17057133 Fasting insulin:Birth weight
9 75545882 2 ALDH1A1 G A exonic synonymous SNV ALDH1A1:NM_000689:exon3:c.C225T:p.S75S
9 79003516 1 RFK C G exonic synonymous SNV RFK:NM_018339:exon3:c.G291C:p.V97V
9 80879149 1 CEP78 C T exonic synonymous SNV CEP78:NM_001098802:exon13:c.C1545T:p.I515I,CEP78:NM_001330691:exon13:c.C1542T:p.I514I,CEP78:NM_001330693:exon13:c.C1542T:p.I514I,CEP78:NM_001330694:exon13:c.C1542T:p.I514I,CEP78:NM_001349838:exon13:c.C1542T:p.I514I,CEP78:NM_001349839:exon13:c.C1545T:p.I515I,CEP78:NM_001349840:exon13:c.C1545T:p.I515I,CEP78:NM_032171:exon13:c.C1545T:p.I515I RS1057650 Hip bone mineral density (BMD):LDL cholesterol:Triglycerides:Triglycerides:Refractive error
9 80919756 1 PSAT1 T G exonic synonymous SNV PSAT1:NM_021154:exon4:c.T297G:p.A99A,PSAT1:NM_058179:exon4:c.T297G:p.A99A RS3739474 LDL cholesterol:HDL cholesterol:Male fertility (birth rate):Male fertility (family size)
9 84267147 2 TLE1 T C exonic synonymous SNV TLE1:NM_001303103:exon6:c.A354G:p.E118E,TLE1:NM_001303104:exon6:c.A354G:p.E118E,TLE1:NM_005077:exon6:c.A354G:p.E118E RS2228173 Years of education
9 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 86498754 1 KIF27 T C exonic nonsynonymous SNV KIF27:NM_001271927:exon10:c.A2419G:p.M807V,KIF27:NM_001271928:exon10:c.A2419G:p.M807V,KIF27:NM_017576:exon10:c.A2419G:p.M807V
9 86498846 1 KIF27 A G exonic nonsynonymous SNV KIF27:NM_001271927:exon10:c.T2327C:p.I776T,KIF27:NM_001271928:exon10:c.T2327C:p.I776T,KIF27:NM_017576:exon10:c.T2327C:p.I776T
9 86498848 1 KIF27 C T exonic synonymous SNV KIF27:NM_001271927:exon10:c.G2325A:p.L775L,KIF27:NM_001271928:exon10:c.G2325A:p.L775L,KIF27:NM_017576:exon10:c.G2325A:p.L775L
9 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 95782667 2 FGD3 C T exonic synonymous SNV FGD3:NM_001083536:exon13:c.C1455T:p.F485F,FGD3:NM_001286993:exon13:c.C1455T:p.F485F,FGD3:NM_033086:exon13:c.C1455T:p.F485F RS11790517 HOMA-B:Gene expression of SUSD3 in peripheral blood monocytes:Height
9 95875381 1 CARD19 G C exonic nonsynonymous SNV CARD19:NM_001318011:exon5:c.G484C:p.G162R,CARD19:NM_032310:exon6:c.G544C:p.G182R
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 96015247 1 WNK2 C T exonic synonymous SNV WNK2:NM_001282394:exon8:c.C1917T:p.S639S,WNK2:NM_006648:exon8:c.C1917T:p.S639S
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 96238578 1 FAM120A C T exonic synonymous SNV FAM120A:NM_001286722:exon3:c.C762T:p.H254H,FAM120A:NM_001286723:exon3:c.C762T:p.H254H,FAM120A:NM_001286724:exon3:c.C762T:p.H254H,FAM120A:NM_014612:exon3:c.C762T:p.H254H RS10821135 LDL cholesterol
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 97912307 1 FANCC T A exonic nonsynonymous SNV FANCC:NM_000136:exon7:c.A584T:p.D195V,FANCC:NM_001243743:exon7:c.A584T:p.D195V,FANCC:NM_001243744:exon7:c.A584T:p.D195V
9 100388119 1 TSTD2 G T exonic nonsynonymous SNV TSTD2:NM_139246:exon3:c.C326A:p.A109D RS10817858 Major depressive disorder:Recurrent early onset major depressive disorder (males):Microalbuminuria:Obesity with early age of onset (age >2):Transmission distortion
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 103064530 1 TEX10 G A exonic synonymous SNV TEX10:NM_001161584:exon15:c.C2685T:p.F895F,TEX10:NM_017746:exon15:c.C2733T:p.F911F RS7472 Irritible bowel syndrome:Triglycerides:Gene expression of INVS in CD4+ lymphocytes:Body mass index (BMI):Gene expression of INVS in blood:Bipolar disorder
9 103109070 1 TEX10 T C exonic nonsynonymous SNV TEX10:NM_001161584:exon3:c.A808G:p.I270V,TEX10:NM_017746:exon3:c.A799G:p.I267V
9 103204577 1 MSANTD3;MSANTD3-TMEFF1 C G exonic synonymous SNV MSANTD3-TMEFF1:NM_001198812:exon1:c.C357G:p.L119L,MSANTD3:NM_001198805:exon2:c.C357G:p.L119L,MSANTD3:NM_001198806:exon2:c.C357G:p.L119L,MSANTD3:NM_001198807:exon2:c.C357G:p.L119L,MSANTD3:NM_080655:exon2:c.C357G:p.L119L
9 106896809 2 SMC2 G A exonic synonymous SNV SMC2:NM_001042550:exon23:c.G3222A:p.L1074L,SMC2:NM_001042551:exon23:c.G3222A:p.L1074L,SMC2:NM_001265602:exon23:c.G3222A:p.L1074L,SMC2:NM_006444:exon23:c.G3222A:p.L1074L RS7872034 Eye color:Gene expression of SMC2 in T cells:Alzheimer's disease:2 hour glucose:HOMA-B:Neuroblastoma (brain cancer):Gene expression of SMC2 (probeID ILMN_1748923) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of SMC2 (probeID ILMN_2411190) in cerebellum in Alzheimer's disease cases and controls:Gene expression of SMC2 (probeID ILMN_2411190) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of SMC2 (probeID ILMN_2411190) in cerebellum in non-Alzheimer's disease samples:Gene expression of SMC2 (probeID ILMN_2411190) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of SMC2 (probeID ILMN_2411190) in cerebellum in Alzheimer's disease cases:Gene expression of SMC2 (probeID ILMN_2411190) in temporal cortex in Alzheimer's disease cases:Gene expression of SMC2 (probeID ILMN_2411190) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of SMC2 (probeID ILMN_1748923) in cerebellum in Alzheimer's disease cases and controls
9 107515214 1 NIPSNAP3A G A exonic nonsynonymous SNV NIPSNAP3A:NM_001329570:exon3:c.G299A:p.R100Q,NIPSNAP3A:NM_015469:exon3:c.G299A:p.R100Q RS2274870 LDL cholesterol:HDL cholesterol
9 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 108147763 1 SLC44A1 T G exonic nonsynonymous SNV SLC44A1:NM_001286730:exon15:c.T1930G:p.S644A,SLC44A1:NM_001330731:exon15:c.T1930G:p.S644A,SLC44A1:NM_080546:exon15:c.T1930G:p.S644A
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 111881927 2 TMEM245 T C exonic synonymous SNV TMEM245:NM_032012:exon1:c.A267G:p.L89L RS6825 Eye color:Differential exon level expression of C9orf5 [probe 3219683] in brain cortex:HDL cholesterol:Serum creatinine:Total cholesterol:LDL cholesterol:Microalbuminuria:Gene expression of CTNNAL1 in blood:Advanced age-related macular degeneration (geographic atrophy)
9 114393784 1 DNAJC25;DNAJC25-GNG10 G A exonic nonsynonymous SNV DNAJC25:NM_001015882:exon1:c.G97A:p.V33M,DNAJC25-GNG10:NM_004125:exon1:c.G97A:p.V33M
9 114411945 1 DNAJC25 G T exonic synonymous SNV DNAJC25:NM_001015882:exon3:c.G702T:p.G234G
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 114982463 1 PTBP3 T C exonic nonsynonymous SNV PTBP3:NM_001244897:exon14:c.A1633G:p.T545A RS7855745 Gene expression of ROD1 [probe 224617_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Waist hip ratio:Rheumatoid arthritis:Gene expression of ROD1 in blood:Gene expression of HSDL2 in blood:Gene expression of SUSD1 in blood:PROP taste detection threshold:Aortic valve calcium:Advanced age-related macular degeneration (geographic atrophy):Salmonella-induced pyroptosis:Infant head circumference
9 114982549 1 PTBP3 C T exonic nonsynonymous SNV PTBP3:NM_001244897:exon14:c.G1547A:p.S516N RS7869523 Gene expression of ROD1 [probe 224617_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Gene expression of HSDL2 in peripheral blood monocytes:Gene expression of ROD1 in peripheral blood monocytes:Gene expression of SUSD1 in peripheral blood monocytes:Waist hip ratio:Rheumatoid arthritis:Gene expression of ROD1 in blood:Gene expression of HSDL2 in blood:Gene expression of SUSD1 in blood:PROP taste detection threshold:Advanced age-related macular degeneration (geographic atrophy):College completion:Aortic valve calcium:Infant head circumference
9 115567184 2 SNX30 T C exonic synonymous SNV SNX30:NM_001012994:exon2:c.T285C:p.V95V RS1891402 Body mass index (BMI):Obesity (body mass index (BMI)):Parkinson's disease
9 115600848 2 SNX30 T C exonic synonymous SNV SNX30:NM_001012994:exon6:c.T885C:p.A295A
9 115950706 1 FKBP15 A C exonic nonsynonymous SNV FKBP15:NM_015258:exon13:c.T1239G:p.H413Q RS10435864 Triglycerides:HDL cholesterol:Total cholesterol:Urinary albumin-to-creatinine ratio:Gene expression of FKBP15 [probeset 242574_at] in sputum:Age at death with kuru exposure
9 115964862 1 FKBP15 G A exonic synonymous SNV FKBP15:NM_015258:exon6:c.C447T:p.N149N
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 116060221 1 RNF183 C T exonic nonsynonymous SNV RNF183:NM_145051:exon2:c.G244A:p.A82T RS3750533 Gene expression of CDC26 in normal prepouch ileum
9 116122954 2 BSPRY A G exonic synonymous SNV BSPRY:NM_001317943:exon3:c.A468G:p.K156K,BSPRY:NM_001317944:exon3:c.A468G:p.K156K,BSPRY:NM_017688:exon3:c.A468G:p.K156K RS752757 Gene expression of CDC26 (ENSG00000176386) in dendritic cells treated with Mycobacterium tuberculosis
9 116136198 1 HDHD3 C T exonic nonsynonymous SNV HDHD3:NM_001304511:exon2:c.G437A:p.G146E,HDHD3:NM_031219:exon2:c.G437A:p.G146E,HDHD3:NM_001304509:exon3:c.G437A:p.G146E,HDHD3:NM_001304510:exon3:c.G437A:p.G146E RS1043836 Gene expression of SLC31A2 in blood:Gene expression of HDHD3 in blood:PROP taste detection threshold:Gene expression of CDC26 (ENSG00000176386) in dendritic cells:Antidepressant efficacy in major depressive disorder partial response after 2 weeks of treatment:Gene expression of HDHD3 (ENSG00000119431) in dendritic cells
9 116356529 2 RGS3 C G exonic nonsynonymous SNV RGS3:NM_144489:exon1:c.C330G:p.C110W
9 116930100 1 COL27A1 G A exonic nonsynonymous SNV COL27A1:NM_032888:exon3:c.G265A:p.V89I RS2567707 LDL cholesterol:Cystatin C in serum:Waist hip ratio:Mitral annular calcium
9 116930194 1 COL27A1 A G exonic nonsynonymous SNV COL27A1:NM_032888:exon3:c.A359G:p.Q120R RS2567706 Fasting insulin:Cystatin C in serum:Mitral annular calcium
9 116931099 1 COL27A1 G A exonic nonsynonymous SNV COL27A1:NM_032888:exon3:c.G1264A:p.A422T RS2241671 Tardive dyskinesia:LDL cholesterol:Rheumatoid arthritis:Height:Body mass index (BMI):Primary rhegmatogenous retinal detachment:Parkinson's disease
9 116931445 1 COL27A1 T C exonic nonsynonymous SNV COL27A1:NM_032888:exon3:c.T1610C:p.I537T RS2808770 Chronic kidney disease:Cystatin C in serum:Mitral annular calcium:Primary rhegmatogenous retinal detachment
9 116931666 1 COL27A1 A T exonic nonsynonymous SNV COL27A1:NM_032888:exon3:c.A1831T:p.I611F RS2567705 Chronic kidney disease:Cystatin C in serum:Mitral annular calcium
9 117044751 1 COL27A1 T C exonic synonymous SNV COL27A1:NM_032888:exon39:c.T3786C:p.Y1262Y
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 117566782 2
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 123631561 1 PHF19 G A exonic synonymous SNV PHF19:NM_001286840:exon6:c.C570T:p.A190A,PHF19:NM_015651:exon6:c.C513T:p.A171A
9 123632045 2 PHF19 A G exonic synonymous SNV PHF19:NM_001009936:exon5:c.T543C:p.S181S RS1056567 Gene expression of EGFL5 in CEU-CHB-JPT lymphoblastoid cell lines:HDL cholesterol change with statins:Rheumatoid arthritis:Methylation levels at chr9:122644335-122644385 [hg18 coord, probe cg21717724] in Caudal pons:Methylation levels at chr9:122645487-122645537 [hg18 coord, probe cg09419670] in Temporal cortex:Methylation levels at chr9:122644335-122644385 [hg18 coord, probe cg21717724] in Cerebellum:Methylation levels at chr9:122644335-122644385 [hg18 coord, probe cg21717724] in Temporal cortex:Methylation levels at chr9:122645487-122645537 [hg18 coord, probe cg09419670] in Caudal pons:Methylation levels at chr9:122645487-122645537 [hg18 coord, probe cg09419670] in Frontal cortex:Methylation levels at chr9:122644335-122644385 [hg18 coord, probe cg21717724] in Frontal cortex:Methylation levels at chr9:122645487-122645537 [hg18 coord, probe cg09419670] in Cerebellum:Urinary albumin-to-creatinine ratio:Birth weight:Obesity with early age of onset (age >2):Gene expression of PSMD5 in normal prepouch ileum
9 123769200 2 C5 C T exonic nonsynonymous SNV C5:NM_001317163:exon19:c.G2422A:p.V808I,C5:NM_001317164:exon19:c.G2404A:p.V802I,C5:NM_001735:exon19:c.G2404A:p.V802I RS17611 Differential exon level expression of C5 [probe 3223804] in peripheral blood mononuclear cells:Gene expression of C5 [probe 3223776] in peripheral blood mononuclear cells:Rheumatoid arthritis:Fasting blood glucose:Total cholesterol change with statins:LDL cholesterol change with statins:Lp-PLA2 activity:Rheumatoid arthritis:Body mass index (BMI):Gene expression of TRAF1 in blood:Gene expression of PHF19 in blood:Gene expression of C5 in blood:Variant Creutzfeldt-Jakob disease
9 123780005 2 C5 G A exonic synonymous SNV C5:NM_001317163:exon13:c.C1650T:p.Y550Y,C5:NM_001317164:exon13:c.C1632T:p.Y544Y,C5:NM_001735:exon13:c.C1632T:p.Y544Y RS25681 Major depressive disorder:Fasting blood glucose:Total cholesterol change with statins:Rheumatoid arthritis:Gene expression of GSN in peripheral blood monocytes:Gene expression of C5 in peripheral blood monocytes:Body mass index (BMI):Pediatric allergic asthma:Maternal transmission distortion
9 124522544 1 DAB2IP G A exonic synonymous SNV DAB2IP:NM_138709:exon4:c.G624A:p.A208A,DAB2IP:NM_032552:exon6:c.G912A:p.A304A
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 127674200 2 GOLGA1 A C exonic nonsynonymous SNV GOLGA1:NM_002077:exon11:c.T949G:p.L317V
9 127915947 1 PPP6C G A exonic synonymous SNV PPP6C:NM_001123369:exon5:c.C468T:p.T156T,PPP6C:NM_002721:exon6:c.C534T:p.T178T,PPP6C:NM_001123355:exon7:c.C645T:p.T215T RS2271746 Salmonella-induced pyroptosis
9 127975654 1 RABEPK C T exonic nonsynonymous SNV RABEPK:NM_005833:exon4:c.C217T:p.H73Y,RABEPK:NM_001174152:exon5:c.C217T:p.H73Y RS16927965 Abnormal Involuntary Movement Scale:Barnes Akathisia Rating Scale:Systolic blood pressure (SBP)
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 129102840 1 MVB12B G A exonic synonymous SNV MVB12B:NM_001011703:exon2:c.G135A:p.T45T,MVB12B:NM_033446:exon2:c.G135A:p.T45T RS1888156 Hip bone mineral density (BMD):Eye color:HDL cholesterol:Suicide attempts in bipolar disorder (substance abuse/dependence):Sporadic Creutzfeldt-Jakob disease:Gene expression of TMEM209 (probeID ILMN_1748926) in breast tumors
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 130197414 1 ZNF79 A G exonic nonsynonymous SNV ZNF79:NM_001286696:exon3:c.A79G:p.R27G,ZNF79:NM_007135:exon3:c.A151G:p.R51G,ZNF79:NM_001286697:exon4:c.A79G:p.R27G,ZNF79:NM_001322260:exon4:c.A79G:p.R27G RS4504745 Gene expression of ZNF79 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of RPL12 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of SLC2A8 [probe 239426_at] in lymphoblastoid cell lines:Schizophrenia:Simpson-Angus Scale:Gene expression of SLC2A8 in Frontal cortex:Gene expression of SLC2A8 in Caudal pons:Gene expression of SLC2A8 in Cerebellum:Gene expression of SLC2A8 in Temporal cortex:Gene expression of ZNF79 in liver:Gene expression of [probe 6860192 centered at chr9:129253430] in blood:Gene expression of SLC2A8 in blood:Gene expression of ZNF79 [probeset 216486_x_at] in sputum:Gene expression of SLC2A8 [probeset 239426_at] in sputum:Gene expression of ZNF79 [probeset 214138_at] in sputum:Bipolar disorder:Gene expression of ZNF79 in liver:Gene expression of SLC2A8 (probeID ILMN_1724609) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of SLC2A8 (probeID ILMN_1724609) in temporal cortex in Alzheimer's disease cases:Refractive error:Gene expression of SLC2A8 (probeID ILMN_1724609) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of SLC2A8 in normal prepouch ileum:Gene expression of SLC2A8 (probeID ILMN_1724609) in cerebellum in non-Alzheimer's disease samples:Mitral annular calcium:Gene expression of SLC2A8 (probeID ILMN_1724609) in cerebellum in Alzheimer's disease cases:Obesity with early age of onset (age >2):Gene expression of SLC2A8 (probeID ILMN_1724609) in cerebellum in Alzheimer's disease cases and controls:Gene expression of SLC2A8 (probeID ILMN_1724609) in temporal cortex in Alzheimer's disease cases and controls
9 130206762 1 ZNF79 C T exonic synonymous SNV ZNF79:NM_001286698:exon3:c.C381T:p.N127N,ZNF79:NM_001286696:exon5:c.C711T:p.N237N,ZNF79:NM_007135:exon5:c.C783T:p.N261N,ZNF79:NM_001286697:exon6:c.C711T:p.N237N,ZNF79:NM_001322260:exon6:c.C711T:p.N237N RS2248025 Rheumatoid arthritis, combined control dataset, gender differentiated:Gene expression of ZNF79 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of SLC2A8 [probe 239426_at] in lymphoblastoid cell lines:Major depressive disorder:Gene expression of SLC2A8 in Cerebellum:Gene expression of SLC2A8 in Temporal cortex:Gene expression of SLC2A8 in Frontal cortex:Gene expression of SLC2A8 in Caudal pons:Gene expression of ZNF79 in peripheral blood monocytes:Gene expression of RPL12 in peripheral blood monocytes:Gene expression of RALGPS1 in peripheral blood monocytes:Gene expression of SLC2A8 in peripheral blood monocytes:Gene expression of SLC2A8 (probeID ILMN_1724609) in cerebellum in Alzheimer's disease cases and controls:Gene expression of SLC2A8 (probeID ILMN_1724609) in temporal cortex in Alzheimer's disease cases and controls:Adiponectin levels:Obesity with early age of onset (age >2)
9 130242166 2 LRSAM1 A G exonic nonsynonymous SNV LRSAM1:NM_001005374:exon13:c.A952G:p.N318D,LRSAM1:NM_138361:exon13:c.A952G:p.N318D,LRSAM1:NM_001005373:exon14:c.A952G:p.N318D,LRSAM1:NM_001190723:exon14:c.A952G:p.N318D RS1539567 Schizophrenia:Gene expression of SLC2A8 in blood:Gene expression of [probe 6860192 centered at chr9:129253430] in blood:Comorbid depressive syndrome and alcohol dependence:Refractive error:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of SLC2A8 (probeID ILMN_1724609) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of SLC2A8 (probeID ILMN_1724609) in cerebellum in Alzheimer's disease cases and controls:College completion
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 131019738 1 GOLGA2 T C exonic nonsynonymous SNV GOLGA2:NM_004486:exon25:c.A2704G:p.R902G
9 131027963 1 GOLGA2 A G exonic synonymous SNV GOLGA2:NM_004486:exon11:c.T753C:p.S251S RS12335848 LDL cholesterol:Height:Adiponectin levels
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 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 131515547 2 ZER1 G T exonic synonymous SNV ZER1:NM_006336:exon4:c.C642A:p.A214A RS8507 HDL cholesterol change with statins:Triglycerides:HDL cholesterol:Gene expression of ENDOG (probeID ILMN_1722309) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ENDOG (probeID ILMN_1722309) in temporal cortex in Alzheimer's disease cases and controls
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 131689361 1 PHYHD1 G A exonic synonymous SNV PHYHD1:NM_001100877:exon2:c.G78A:p.A26A,PHYHD1:NM_001100876:exon4:c.G78A:p.A26A,PHYHD1:NM_174933:exon4:c.G78A:p.A26A RS751340 HOMA-IR:Fasting insulin:Recurrent early onset major depressive disorder (females):Recurrent early onset major depressive disorder (males):Gene expression of SH3GLB2 in peripheral blood monocytes:Gene expression of PHYHD1 in liver:Salmonella-induced pyroptosis
9 131763938 1 NUP188 G A exonic nonsynonymous SNV NUP188:NM_015354:exon35:c.G3974A:p.R1325H
9 131767668 1 NUP188 A C exonic synonymous SNV NUP188:NM_015354:exon40:c.A4596C:p.S1532S RS2287363 College completion:Salmonella-induced pyroptosis
9 131771505 1 SH3GLB2 C T exonic synonymous SNV SH3GLB2:NM_001287046:exon10:c.G960A:p.P320P,SH3GLB2:NM_020145:exon10:c.G960A:p.P320P,SH3GLB2:NM_001287045:exon12:c.G987A:p.P329P
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 131909736 1 PTPA C T exonic nonsynonymous SNV PTPA:NM_001271832:exon9:c.C878T:p.S293L,PTPA:NM_178003:exon9:c.C839T:p.S280L,PTPA:NM_001193397:exon10:c.C860T:p.S287L,PTPA:NM_178000:exon10:c.C965T:p.S322L,PTPA:NM_021131:exon11:c.C965T:p.S322L,PTPA:NM_178001:exon11:c.C1070T:p.S357L RS2480452 Irritible bowel syndrome:Fasting insulin:Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene expression of CRAT in blood:Gene expression of [probe 240138 centered at chr9:130972761] in blood:Gene expression of PPP2R4 in blood:College completion:Tetrology of fallot
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 132580901 1 TOR1A C G exonic nonsynonymous SNV TOR1A:NM_000113:exon4:c.G646C:p.D216H RS1801968 Birth weight:Paternal transmission distortion
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 132662786 2 FNBP1 C T exonic nonsynonymous SNV FNBP1:NM_015033:exon14:c.G1469A:p.S490N RS1023000 Birth weight
9 132686186 2 FNBP1 A G exonic synonymous SNV FNBP1:NM_015033:exon10:c.T1107C:p.H369H
9 132838016 1 GPR107 C T exonic synonymous SNV GPR107:NM_001136557:exon2:c.C243T:p.D81D,GPR107:NM_001136558:exon2:c.C243T:p.D81D,GPR107:NM_020960:exon2:c.C243T:p.D81D
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 134020092 2 NUP214 C T exonic nonsynonymous SNV NUP214:NM_001318324:exon12:c.C1720T:p.P574S,NUP214:NM_005085:exon12:c.C1720T:p.P574S RS103612 Triglycerides:Refractive error:Adiponectin levels:Years of education:College completion
9 134346315 2 PRRC2B T C exonic synonymous SNV PRRC2B:NM_013318:exon13:c.T2052C:p.R684R RS4310250 HDL cholesterol:LDL cholesterol:HDL cholesterol:Adiponectin levels:Gene expression of POMT1 (probeID ILMN_2305721) in cerebellum in Alzheimer's disease cases and controls:Gene expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Alzheimer's disease cases and controls
9 134350323 1 PRRC2B C G exonic nonsynonymous SNV PRRC2B:NM_013318:exon15:c.C2807G:p.T936S
9 134350458 1 PRRC2B C T exonic nonsynonymous SNV PRRC2B:NM_013318:exon15:c.C2942T:p.P981L RS10751478 Body mass index (BMI)
9 134350647 2 PRRC2B T C exonic nonsynonymous SNV PRRC2B:NM_013318:exon15:c.T3131C:p.M1044T
9 134351065 2 PRRC2B G T exonic synonymous SNV PRRC2B:NM_013318:exon15:c.G3549T:p.G1183G RS7858488 HDL cholesterol:LDL cholesterol:Adiponectin levels:Gene expression of POMT1 (probeID ILMN_2305721) in cerebellum in Alzheimer's disease cases and controls:Gene expression of POMT1 (probeID ILMN_2305721) in temporal cortex in Alzheimer's disease cases and controls
9 134351343 1 PRRC2B C T exonic nonsynonymous SNV PRRC2B:NM_013318:exon15:c.C3827T:p.A1276V RS11243403 HDL cholesterol change with statins: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
9 134351730 1 PRRC2B T G exonic nonsynonymous SNV PRRC2B:NM_013318:exon15:c.T4214G:p.L1405R
9 134351770 1 PRRC2B G A exonic synonymous SNV PRRC2B:NM_013318:exon15:c.G4254A:p.K1418K
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 135202829 2 SETX T C exonic nonsynonymous SNV SETX:NM_001351527:exon10:c.A4156G:p.I1386V,SETX:NM_001351528:exon10:c.A4156G:p.I1386V,SETX:NM_015046:exon10:c.A4156G:p.I1386V RS543573 Irritible bowel syndrome:Triglycerides:Serum creatinine:Chronic kidney disease:Advanced age-related macular degeneration:Salmonella-induced pyroptosis:Paternal transmission distortion
9 135203231 2 SETX C T exonic nonsynonymous SNV SETX:NM_001351527:exon10:c.G3754A:p.G1252R,SETX:NM_001351528:exon10:c.G3754A:p.G1252R,SETX:NM_015046:exon10:c.G3754A:p.G1252R RS1183768 Irritible bowel syndrome:Triglycerides:Serum creatinine:Chronic kidney disease:Advanced age-related macular degeneration:Paternal transmission distortion
9 135203409 2 SETX A C exonic nonsynonymous SNV SETX:NM_001351527:exon10:c.T3576G:p.D1192E,SETX:NM_001351528:exon10:c.T3576G:p.D1192E,SETX:NM_015046:exon10:c.T3576G:p.D1192E RS1185193 Irritible bowel syndrome:Longstanding arthritis:Arthritis including non-Rheumatoid:Triglycerides:Chronic kidney disease:Serum creatinine:Gene expression of SETX in blood:Transmission distortion:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Paternal transmission distortion
9 135206460 2 SETX A G exonic synonymous SNV SETX:NM_001351527:exon9:c.T1077C:p.Y359Y,SETX:NM_001351528:exon9:c.T1077C:p.Y359Y,SETX:NM_015046:exon9:c.T1077C:p.Y359Y RS9411449 Triglycerides:Serum creatinine:Chronic kidney disease:Paternal transmission distortion:Advanced age-related macular degeneration:Transmission distortion
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 135521303 1 DDX31 C T exonic synonymous SNV DDX31:NM_001322340:exon13:c.G1674A:p.L558L,DDX31:NM_001322342:exon13:c.G1143A:p.L381L,DDX31:NM_001322343:exon13:c.G1287A:p.L429L,DDX31:NM_022779:exon13:c.G1674A:p.L558L,DDX31:NM_138620:exon13:c.G1674A:p.L558L,DDX31:NM_001322341:exon14:c.G1386A:p.L462L RS306537 Rheumatoid arthritis:Years of education:College completion
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 135974079 2 RALGDS G C exonic synonymous SNV RALGDS:NM_001042368:exon18:c.C2475G:p.L825L,RALGDS:NM_001271774:exon18:c.C2553G:p.L851L,RALGDS:NM_001271775:exon18:c.C2637G:p.L879L,RALGDS:NM_001271776:exon18:c.C2604G:p.L868L,RALGDS:NM_006266:exon18:c.C2640G:p.L880L RS1062356 HOMA-IR:Total cholesterol:HDL cholesterol:HDL cholesterol change with statins:Height
9 135974100 2 RALGDS G A exonic synonymous SNV RALGDS:NM_001042368:exon18:c.C2454T:p.T818T,RALGDS:NM_001271774:exon18:c.C2532T:p.T844T,RALGDS:NM_001271775:exon18:c.C2616T:p.T872T,RALGDS:NM_001271776:exon18:c.C2583T:p.T861T,RALGDS:NM_006266:exon18:c.C2619T:p.T873T RS886017 HDL cholesterol:Triglycerides change with statins:Microalbuminuria:Gene expression of TSC1 [transcript NM_000368, probe A_24_P329635] in liver:Systolic blood pressure (SBP):Comorbid depressive syndrome and alcohol dependence:Crohn's disease:Psoriasis and Crohn's disease combined:Psoriasis:Refractive error
9 135976940 1 RALGDS G A exonic synonymous SNV RALGDS:NM_001042368:exon16:c.C2256T:p.D752D,RALGDS:NM_001271774:exon16:c.C2334T:p.D778D,RALGDS:NM_001271775:exon16:c.C2418T:p.D806D,RALGDS:NM_001271776:exon16:c.C2385T:p.D795D,RALGDS:NM_006266:exon16:c.C2421T:p.D807D
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 136199466 1 SURF6 G A exonic nonsynonymous SNV SURF6:NM_001278942:exon4:c.C523T:p.R175W,SURF6:NM_006753:exon4:c.C524T:p.T175M RS886089 Parkinson's disease (PD):Gene expression of SURF1 in CHB lymphoblastoid cell lines
9 136199503 1 SURF6 G A exonic nonsynonymous SNV SURF6:NM_006753:exon4:c.C487T:p.R163W RS886090 Parkinson's disease (PD):Gene expression of SURF1 in CHB lymphoblastoid cell lines:Gene expression of Hs.495422 in CEU lymphoblastoid cell lines:Gene expression of SURF6 in liver:Gene expression of SURF6 [probe ILMN_29359] in osteoblasts:2 hour glucose:Gene expression of SURF6 in Caudal pons:Gene expression of SURF6 in Cerebellum:Gene expression of SURF1 in Caudal pons:Gene expression of SURF6 in Frontal cortex:Triglycerides:HDL cholesterol:Gene expression of SURF6 in CD4+ lymphocytes:Gene expression of SURF6 [probe ILMN_29359] in untreated osteoblasts:Gene expression of SURF6 [probe ILMN_29359] in osteoblasts treated with BMP2:Gene expression of SURF6 [probe ILMN_29359] in osteoblasts treated with dexamethasone:Gene expression of SURF6 [probe ILMN_29359] in osteoblasts treated with PGE2:Gene expression of SURF1 in blood:Gene expression of [probe 4860689 centered at chr9:135198369] in blood:Gene expression of SURF6 in blood:Gene expression of MED22 in blood:Gene expression of SURF1 in normal prepouch ileum:Obesity with early age of onset (age >2):Gene expression of SURF1 (probeID ILMN_1663407) in cerebellum in Alzheimer's disease cases and controls:Gene expression of SURF6 in normal prepouch ileum:Gene expression of SURF1 (probeID ILMN_1663407) in temporal cortex in Alzheimer's disease cases and controls
9 136227260 1 SURF2 A G exonic nonsynonymous SNV SURF2:NM_001278928:exon5:c.A637G:p.S213G,SURF2:NM_017503:exon5:c.A637G:p.S213G RS12763 Gene expression of SURF1 in CEU lymphoblastoid cell lines:Gene expression of SURF5 in blood cells in Celiac disease:Gene expression of SURF6 [probe ILMN_29359] in osteoblasts:2 hour glucose:Fasting insulin:HOMA-IR:Gene expression of SURF1 in Caudal pons:Gene expression of SURF6 in Cerebellum:Gene expression of SURF1 in Frontal cortex:Gene expression of SURF6 in Frontal cortex:Triglycerides:Total cholesterol:Gene expression of SURF6 in CD4+ lymphocytes:Gene expression of SURF4 [transcript NM_033161, probe A_23_P32052] in liver:Gene expression of SURF1 in blood:Gene expression of SURF6 in blood:Gene expression of [probe 4860689 centered at chr9:135198369] in blood:Gene expression of MED22 in blood:Gene expression of SURF1 (probeID ILMN_1663407) in temporal cortex in Alzheimer's disease cases:Gene expression of SURF1 (probeID ILMN_1663407) in temporal cortex in Progressive Supranuclear Palsy cases:Obesity with early age of onset (age >2):Gene expression of SURF1 (probeID ILMN_1663407) in cerebellum in non-Alzheimer's disease samples:Gene expression of SURF6 in normal prepouch ileum:Gene expression of SURF1 (probeID ILMN_1663407) in cerebellum in Alzheimer's disease cases:Gene expression of SURF1 (probeID ILMN_1663407) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of SURF1 (probeID ILMN_1663407) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of SURF1 (probeID ILMN_1663407) in cerebellum in Alzheimer's disease cases and controls:Gene expression of SURF1 in normal prepouch ileum
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 136328657 1 CACFD1 T C exonic synonymous SNV CACFD1:NM_001135775:exon2:c.T174C:p.I58I,CACFD1:NM_001242369:exon2:c.T174C:p.I58I,CACFD1:NM_001242370:exon2:c.T174C:p.I58I,CACFD1:NM_017586:exon2:c.T174C:p.I58I RS3124765 Alkaline phosphatase (ALP):Childhood acute lymphoblastic leukemia:Lp-PLA2 activity:Lp-PLA2 mass:Gene expression of SURF6 in peripheral blood monocytes:Gene expression of MED22 in peripheral blood monocytes:Gene expression of SURF1 in peripheral blood monocytes:Total cholesterol:LDL cholesterol:Height:Coronary artery disease (CAD):Activated partial thromboplastin time:Venous thromboembolism:Mitral annular calcium
9 136338580 1 SLC2A6 G A exonic synonymous SNV SLC2A6:NM_017585:exon8:c.C1179T:p.Y393Y
9 136340200 1 SLC2A6 T G exonic synonymous SNV SLC2A6:NM_001145099:exon6:c.A810C:p.P270P,SLC2A6:NM_017585:exon6:c.A810C:p.P270P RS2073935 Serum soluble E-selectin
9 136412236 2 ADAMTSL2 A T exonic synonymous SNV ADAMTSL2:NM_001145320:exon9:c.A840T:p.A280A,ADAMTSL2:NM_014694:exon9:c.A840T:p.A280A
9 136412255 2 ADAMTSL2 A C exonic synonymous SNV ADAMTSL2:NM_001145320:exon9:c.A859C:p.R287R,ADAMTSL2:NM_014694:exon9:c.A859C:p.R287R
9 136536679 1 SARDH G A exonic synonymous SNV SARDH:NM_001134707:exon18:c.C2304T:p.I768I,SARDH:NM_007101:exon18:c.C2304T:p.I768I RS129932 LDL cholesterol change with statins:HDL cholesterol change with statins:Obesity with early age of onset (age >2)
9 136536793 1 SARDH C G exonic synonymous SNV SARDH:NM_001134707:exon18:c.G2190C:p.V730V,SARDH:NM_007101:exon18:c.G2190C:p.V730V RS2519123 LDL cholesterol change with statins:HDL cholesterol change with statins:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
9 136599146 1 SARDH C T exonic synonymous SNV SARDH:NM_001134707:exon2:c.G150A:p.Q50Q,SARDH:NM_007101:exon2:c.G150A:p.Q50Q RS573904 Total cholesterol change with statins:Triglycerides
9 136633606 1 VAV2 G A exonic synonymous SNV VAV2:NM_003371:exon26:c.C2430T:p.I810I,VAV2:NM_001134398:exon29:c.C2547T:p.I849I RS9722384 Fasting blood glucose
9 136643994 1 VAV2 T C exonic nonsynonymous SNV VAV2:NM_003371:exon20:c.A1750G:p.M584V,VAV2:NM_001134398:exon22:c.A1780G:p.M594V RS602990 Triglycerides:HOMA-B:HDL cholesterol change with statins:LDL cholesterol:Triglycerides change with statins:Neuroblastoma (brain cancer):Information processing speed (Symbol search):Microalbuminuria
9 136907005 1 BRD3 G A exonic synonymous SNV BRD3:NM_007371:exon8:c.C1284T:p.P428P
9 136913355 1 BRD3 T C exonic synonymous SNV BRD3:NM_007371:exon6:c.A936G:p.L312L RS464826 Triglycerides change with statins:Obesity with early age of onset (age >2):Gene expression of BRD3 in normal prepouch ileum
9 138376649 2 PPP1R26 T C exonic nonsynonymous SNV PPP1R26:NM_014811:exon4:c.T293C:p.V98A RS3748192 HDL cholesterol
9 138376972 2 PPP1R26 A G exonic nonsynonymous SNV PPP1R26:NM_014811:exon4:c.A616G:p.K206E
9 138377433 1 PPP1R26 G A exonic synonymous SNV PPP1R26:NM_014811:exon4:c.G1077A:p.A359A
9 138377657 2 PPP1R26 T C exonic nonsynonymous SNV PPP1R26:NM_014811:exon4:c.T1301C:p.M434T
9 138377853 2 PPP1R26 A G exonic synonymous SNV PPP1R26:NM_014811:exon4:c.A1497G:p.V499V RS2004074 HDL cholesterol
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 138903671 2 NACC2 A G exonic synonymous SNV NACC2:NM_144653:exon6:c.T1455C:p.P485P
9 139100805 1 QSOX2 T C exonic synonymous SNV QSOX2:NM_181701:exon12:c.A1866G:p.P622P
9 139252495 1 GPSM1 G A exonic synonymous SNV GPSM1:NM_001145639:exon4:c.G324A:p.P108P,GPSM1:NM_001200003:exon4:c.G324A:p.P108P,GPSM1:NM_001145638:exon14:c.G1851A:p.P617P RS3812547 Microalbuminuria:Gene expression of CARD9 [transcript NM_052813, probe A_23_P500433] in liver
9 139256468 1 DNLZ C G exonic nonsynonymous SNV DNLZ:NM_001080849:exon3:c.G533C:p.S178T RS3812552 Height
9 139256541 1 DNLZ C T exonic nonsynonymous SNV DNLZ:NM_001080849:exon3:c.G460A:p.A154T
9 139266405 2 CARD9 G A exonic synonymous SNV CARD9:NM_052813:exon2:c.C126T:p.P42P,CARD9:NM_052814:exon2:c.C126T:p.P42P RS10781499 Gene expression of CARD9 [probe 220162_s_at] in lymphoblastoid cell lines:HOMA-B:Gene expression of INPP5E in Frontal cortex:Gene expression of INPP5E in Cerebellum:Gene expression of INPP5E in Caudal pons:Gene expression of INPP5E in Temporal cortex:Height:Ulcerative colitis:Crohn's disease:Ulcerative colitis (Surgical intervention):Urinary albumin-to-creatinine ratio:Gene expression of LOC162632 in normal prepouch ileum:Gene expression of NRIP2 in normal prepouch ileum:Gene expression of RGS7 in normal prepouch ileum:Gene expression of CREB3L3 in normal prepouch ileum:Gene expression of PDZRN3 in normal prepouch ileum:Gene expression of CRISP2 in normal prepouch ileum:Gene expression of HMGA2 in normal prepouch ileum:Gene expression of CELF1 in normal prepouch ileum:Gene expression of NR2F6 in normal prepouch ileum:Gene expression of C11orf61 in normal prepouch ileum:Gene expression of HAX1 in normal prepouch ileum:Gene expression of PRSS3 in normal prepouch ileum:Gene expression of MIR10B in normal prepouch ileum:Gene expression of FLJ41649 in normal prepouch ileum:Gene expression of STGC3 in normal prepouch ileum:Gene expression of PLCL1 in normal prepouch ileum:Gene expression of PTCH1 in normal prepouch ileum:Gene expression of LGALS14 in normal prepouch ileum:Gene expression of KRT24 in normal prepouch ileum:Gene expression of ANKRD20B in normal prepouch ileum:Gene expression of UBXN7 in normal prepouch ileum:Gene expression of ADAMTSL1 in normal prepouch ileum:Gene expression of C20orf54 in normal prepouch ileum:Gene expression of SNAPC4 in normal prepouch ileum:Gene expression of C2orf67 in normal prepouch ileum:Gene expression of SPARCL1 in normal prepouch ileum:Gene expression of MPZL2 in normal prepouch ileum:Gene expression of SPDYE1 in normal prepouch ileum:Gene expression of KDM5B in normal prepouch ileum:Gene expression of CCK in normal prepouch ileum:Gene expression of MYOF in normal prepouch ileum:Gene expression of CD200 in normal prepouch ileum:Gene expression of CLCA1 in normal prepouch ileum:Gene expression of GNG11 in normal prepouch ileum:Gene expression of KIF14 in normal prepouch ileum:Gene expression of HOXB6 in normal prepouch ileum:Inflammatory bowel disease:Gene expression of C22orf43 in normal prepouch ileum:Gene expression of INPP5E (probeID ILMN_1811301) in cerebellum in non-Alzheimer's disease samples:Gene expression of CA11 in normal prepouch ileum:Gene expression of GYPE in normal prepouch ileum:Gene expression of ZNF114 in normal prepouch ileum:Gene expression of BTN3A2 in normal prepouch ileum:Gene expression of ITLN1 in normal prepouch ileum:Gene expression of KLHL36 in normal prepouch ileum:Gene expression of DAOA in normal prepouch ileum:Gene expression of KGFLP1 in normal prepouch ileum:Gene expression of SQRDL in normal prepouch ileum:Gene expression of ZAK in normal prepouch ileum:Gene expression of DHDPSL in normal prepouch ileum:Gene expression of OR2M3 in normal prepouch ileum:Gene expression of OR8K3 in normal prepouch ileum:Gene expression of CD34 in normal prepouch ileum:Gene expression of KIAA1328 in normal prepouch ileum:Gene expression of EXOC4 in normal prepouch ileum:Gene expression of CHD6 in normal prepouch ileum:Gene expression of OR1J2 in normal prepouch ileum:Gene expression of CIDEC in normal prepouch ileum:Gene expression of CNTN5 in normal prepouch ileum:Gene expression of LGI3 in normal prepouch ileum:Gene expression of SLC27A4 in normal prepouch ileum:Gene expression of RFX3 in normal prepouch ileum:Gene expression of CLMN in normal prepouch ileum:Gene expression of C4BPA in normal prepouch ileum:Gene expression of LEPR in normal prepouch ileum:Gene expression of GSTM3 in normal prepouch ileum:Gene expression of TARBP1 in normal prepouch ileum:Gene expression of LOC100129345 in normal prepouch ileum:Gene expression of CYP4B1 in normal prepouch ileum:Gene expression of LYG2 in normal prepouch ileum:Gene expression of EMILIN1 in normal prepouch ileum:Gene expression of AGPAT2 in normal prepouch ileum:Gene expression of EVC2 in normal prepouch ileum:Gene expression of LDHAL6A in normal prepouch ileum:Gene expression of OR6B3 in normal prepouch ileum:Gene expression of ZNF16 in normal prepouch ileum:Gene expression of SDCCAG3 in normal prepouch ileum:Gene expression of ANKRD33 in normal prepouch ileum:Gene expression of OR8B2 in normal prepouch ileum:Gene expression of LIMCH1 in normal prepouch ileum:Gene expression of SULT2A1 in normal prepouch ileum:Gene expression of HOXB3 in normal prepouch ileum:Gene expression of NLGN1 in normal prepouch ileum:Gene expression of PPP1R9A in normal prepouch ileum:Gene expression of MYBPC2 in normal prepouch ileum:Gene expression of TCL6 in normal prepouch ileum:Gene expression of AKNAD1 in normal prepouch ileum:Gene expression of TMEM63C in normal prepouch ileum:Gene expression of FSHB in normal prepouch ileum:Gene expression of JMJD5 in normal prepouch ileum:Gene expression of MFSD2A in normal prepouch ileum:Gene expression of NBPF14 in normal prepouch ileum:Gene expression of NOL12 in normal prepouch ileum:Primary sclerosing cholangitis:Gene expression of MTSS1 in normal prepouch ileum:Gene expression of KRT75 in normal prepouch ileum:Gene expression of INPP5E (probeID ILMN_1811301) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of USP17L2 in normal prepouch ileum:Gene expression of GOLT1A in normal prepouch ileum:Gene expression of YPEL2 in normal prepouch ileum:Gene expression of GDF5 in normal prepouch ileum:Gene expression of EPM2A in normal prepouch ileum:Gene expression of CCZ1 in normal prepouch ileum:Gene expression of HOXB8 in normal prepouch ileum:Gene expression of ELOVL2 in normal prepouch ileum:Gene expression of UNC5D in normal prepouch ileum:Gene expression of BPIL2 in normal prepouch ileum:Gene expression of GNMT in normal prepouch ileum:Gene expression of PAR4 in normal prepouch ileum:Gene expression of ABTB2 in normal prepouch ileum:Gene expression of INPP5E (probeID ILMN_1811301) in cerebellum in Alzheimer's disease cases and controls:Gene expression of AIM1L in normal prepouch ileum:Gene expression of STARD13 in normal prepouch ileum:Gene expression of KCNJ1 in normal prepouch ileum:Gene expression of RTP3 in normal prepouch ileum:Gene expression of KLKP1 in normal prepouch ileum:Gene expression of HSD17B2 in normal prepouch ileum:Gene expression of HOXB5 in normal prepouch ileum:Gene expression of SAMD12 in normal prepouch ileum:Gene expression of HOXB4 in normal prepouch ileum:Gene expression of INPP5E (probeID ILMN_1811301) in cerebellum in Alzheimer's disease cases:Gene expression of KRT39 in normal prepouch ileum:Gene expression of DNAJC18 in normal prepouch ileum:Gene expression of PRUNE2 in normal prepouch ileum:Gene expression of GPR135 in normal prepouch ileum:Gene expression of RPL34 in normal prepouch ileum:Gene expression of PYGO1 in normal prepouch ileum:Gene expression of ENPP2 in normal prepouch ileum:Gene expression of OR2B3 in normal prepouch ileum:Gene expression of TEK in normal prepouch ileum:Gene expression of OR10A4 in normal prepouch ileum:Gene expression of MIR136 in normal prepouch ileum:Gene expression of FNIP2 in normal prepouch ileum:Gene expression of GPR149 in normal prepouch ileum:Gene expression of AVPR1A in normal prepouch ileum:Gene expression of FLJ10661 in normal prepouch ileum:Gene expression of MIR26A2 in normal prepouch ileum:Gene expression of KCNIP4 in normal prepouch ileum:Gene expression of MFSD5 in normal prepouch ileum:Gene expression of PBX2 in normal prepouch ileum:Gene expression of FER in normal prepouch ileum:Gene expression of ALMS1P in normal prepouch ileum:Gene expression of FLJ45964 in normal prepouch ileum:Gene expression of IFNW1 in normal prepouch ileum:Gene expression of GK2 in normal prepouch ileum:Gene expression of MIR516B1 in normal prepouch ileum:Gene expression of A2LD1 in normal prepouch ileum:Gene expression of NBPF16 in normal prepouch ileum:Gene expression of SMOC1 in normal prepouch ileum:Gene expression of SYN3 in normal prepouch ileum:Gene expression of DIXDC1 in normal prepouch ileum:Gene expression of GJA8 in normal prepouch ileum:Gene expression of PMFBP1 in normal prepouch ileum:Gene expression of FZD4 in normal prepouch ileum:Gene expression of SERPINB13 in normal prepouch ileum:Gene expression of C6orf208 in normal prepouch ileum:Gene expression of PDE5A in normal prepouch ileum:Gene expression of MIR205 in normal prepouch ileum:Gene expression of PDE4D in normal prepouch ileum:Gene expression of FILIP1 in normal prepouch ileum:Gene expression of OR8G5 in normal prepouch ileum:Gene expression of POR in normal prepouch ileum:Gene expression of C14orf79 in normal prepouch ileum:Gene expression of CCDC46 in normal prepouch ileum:Gene expression of CACNB1 in normal prepouch ileum:Gene expression of KGFLP2 in normal prepouch ileum:Gene expression of PTF1A in normal prepouch ileum:Gene expression of INPP5E (probeID ILMN_1811301) in temporal cortex in non-Alzheimer's disease samples:Gene expression of PLEKHG3 in normal prepouch ileum:Gene expression of PSG9 in normal prepouch ileum:Gene expression of NBPF15 in normal prepouch ileum:Gene expression of FZD6 in normal prepouch ileum:Gene expression of NBPF11 in normal prepouch ileum:Gene expression of CAV1 in normal prepouch ileum:Gene expression of DLL1 in normal prepouch ileum:Gene expression of INPP5E (probeID ILMN_1811301) in temporal cortex in Alzheimer's disease cases:Gene expression of FAM138B in normal prepouch ileum:Gene expression of AGA in normal prepouch ileum:Gene expression of GLS2 in normal prepouch ileum:Gene expression of DEPDC4 in normal prepouch ileum:Gene expression of SUSD1 in normal prepouch ileum:Gene expression of C10orf93 in normal prepouch ileum:Gene expression of SIGLEC1 in normal prepouch ileum
9 139266496 2 CARD9 C T exonic nonsynonymous SNV CARD9:NM_052813:exon2:c.G35A:p.S12N,CARD9:NM_052814:exon2:c.G35A:p.S12N RS4077515 Gene expression of CARD9 [probe 220162_s_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Gene expression of INPP5E in blood cells in Celiac disease:Differential exon level expression of PMPCA [probe 3194372] in brain cortex:Gene expression of CARD9 in Lymphoblastoid cell lines:Gene expression of INPP5E [probe ILMN_11866] in osteoblasts:Ulcerative colitis:Gene expression of INPP5E in Frontal cortex:Gene expression of INPP5E in Temporal cortex:Gene expression of INPP5E in Caudal pons:Gene expression of INPP5E in Cerebellum:Height:Crohn's disease:Crohn's disease:Ulcerative colitis:Urinary albumin-to-creatinine ratio:Gene expression of SNAPC4 in blood:Gene expression of C9orf151///CARD9 in blood:Gene expression of INPP5E in blood:Gene expression of INPP5E///SEC16A in blood:Gene expression of SDCCAG3 in blood:Gene expression of INPP5E (probeID ILMN_1811301) in temporal cortex in non-Alzheimer's disease samples:Gene expression of INPP5E (probeID ILMN_1811301) in temporal cortex in Progressive Supranuclear Palsy cases:Primary sclerosing cholangitis:Gene expression of INPP5E (probeID ILMN_1811301) in temporal cortex in Alzheimer's disease cases:Gene expression of INPP5E (probeID ILMN_1811301) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of INPP5E (probeID ILMN_1811301) in cerebellum in Alzheimer's disease cases and controls:Hypertension (early onset hypertension):Gene expression of SDCCAG3 in normal prepouch ileum:Gene expression of INPP5E (probeID ILMN_1811301) in cerebellum in Alzheimer's disease cases:Gene expression of INPP5E (probeID ILMN_1811301) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of INPP5E (probeID ILMN_1811301) in cerebellum in non-Alzheimer's disease samples
9 139272058 2 SNAPC4 A G exonic synonymous SNV SNAPC4:NM_003086:exon21:c.T4221C:p.S1407S RS10781507 Simpson-Angus Scale:Fasting blood glucose:LDL cholesterol:Gene expression of INPP5E in Frontal cortex:Gene expression of INPP5E in Temporal cortex:Gene expression of INPP5E in Caudal pons:Gene expression of INPP5E in Cerebellum:Triglycerides:Height:Urinary albumin-to-creatinine ratio:Gene expression of INPP5E (probeID ILMN_1811301) in cerebellum in Alzheimer's disease cases and controls:Gene expression of SDCCAG3 in normal prepouch ileum:Gene expression of INPP5E (probeID ILMN_1811301) in temporal cortex in Alzheimer's disease cases and controls
9 139273288 2 SNAPC4 C T exonic synonymous SNV SNAPC4:NM_003086:exon21:c.G2991A:p.E997E RS3829112 Gene expression of LOC206962 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of LOC401560 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Autism:Bipolar disorder:Gene expression of SNAPC4 (ENSG00000165684) in dendritic cells treated with Mycobacterium tuberculosis
9 139298580 2 SDCCAG3 C T exonic nonsynonymous SNV SDCCAG3:NM_001039708:exon7:c.G916A:p.V306M,SDCCAG3:NM_006643:exon8:c.G1066A:p.V356M,SDCCAG3:NM_001039707:exon9:c.G1135A:p.V379M
9 139298593 2 SDCCAG3 A G exonic synonymous SNV SDCCAG3:NM_001039708:exon7:c.T903C:p.G301G,SDCCAG3:NM_006643:exon8:c.T1053C:p.G351G,SDCCAG3:NM_001039707:exon9:c.T1122C:p.G374G
9 139299637 2 SDCCAG3 C T exonic nonsynonymous SNV SDCCAG3:NM_001039708:exon5:c.G692A:p.R231Q,SDCCAG3:NM_006643:exon6:c.G842A:p.R281Q,SDCCAG3:NM_001039707:exon7:c.G911A:p.R304Q RS3812577 Irritible bowel syndrome:Differential exon level expression of SDCCAG3 [probe 3229956] in brain cortex:Differential exon level expression of SDCCAG3 [probe 3229956] in peripheral blood mononuclear cells:Tardive dyskinesia:Abnormal Involuntary Movement Scale:Gene expression of INPP5E in CD4+ lymphocytes:Height:Gene expression of INPP5E in blood:Gene expression of GPSM1 in blood:Gene expression of C9orf151///CARD9 in blood:Gene expression of INPP5E///SEC16A in blood:Bipolar disorder:Gene expression of INPP5E (probeID ILMN_1811301) in cerebellum in Alzheimer's disease cases and controls
9 139306467 2 PMPCA C T exonic synonymous SNV PMPCA:NM_015160:exon2:c.C90T:p.Y30Y RS10870144 Hip bone mineral density (BMD):Spine bone mineral density (BMD):Gene expression of INPP5E in blood cells in Celiac disease:Gene expression of INPP5E in CD4+ lymphocytes:Height:Gene expression of INPP5E///SEC16A in blood:Gene expression of INPP5E in blood:Gene expression of C9orf151///CARD9 in blood:Gene expression change of SEC16A (ENSG00000148396) in dendritic cells after treatment with Mycobacterium tuberculosis:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
9 139324740 2 INPP5E C T exonic synonymous SNV INPP5E:NM_001318502:exon9:c.G1788A:p.P596P,INPP5E:NM_019892:exon9:c.G1791A:p.P597P
9 139326304 2 INPP5E G A exonic synonymous SNV INPP5E:NM_001318502:exon7:c.C1518T:p.H506H,INPP5E:NM_019892:exon7:c.C1521T:p.H507H
9 139328551 2 INPP5E T C exonic synonymous SNV INPP5E:NM_001318502:exon3:c.A972G:p.P324P,INPP5E:NM_019892:exon3:c.A972G:p.P324P
9 139371234 2 SEC16A G A exonic synonymous SNV SEC16A:NM_001276418:exon2:c.C834T:p.D278D,SEC16A:NM_014866:exon3:c.C834T:p.D278D RS10781497 Rheumatoid arthritis:Height:Gene expression change of INPP5E (ENSG00000148384) in dendritic cells after treatment with Mycobacterium tuberculosis
9 139694521 1 CCDC183 T G exonic nonsynonymous SNV CCDC183:NM_001039374:exon4:c.T338G:p.L113R RS4546744 Differential exon level expression of MAMDC4 [probe 3194836] in brain cortex:Rheumatoid arthritis:Height:Carboplatin-induced cytotoxicity in treatment of ovarian cancer as measured by carboplatin IC50:Gene expression of PHPT1 in blood:Gene expression of LCN8 in blood:Sporadic Creutzfeldt-Jakob disease:Gene expression of TRAF2 (ENSG00000127191) in dendritic cells
9 139694569 1 CCDC183 A C exonic nonsynonymous SNV CCDC183:NM_001039374:exon4:c.A386C:p.D129A RS7859194 Rheumatoid arthritis:Carboplatin-induced cytotoxicity in treatment of ovarian cancer as measured by carboplatin IC50:Infant head circumference
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 139701108 2 CCDC183 A C exonic nonsynonymous SNV CCDC183:NM_001039374:exon11:c.A1262C:p.N421T RS2254143 Irritible bowel syndrome:Gene expression of PHPT1 in peripheral blood monocytes:Gene expression of C9orf86 (ENSG00000196642) in dendritic cells:Parkinson's disease:Infant head circumference
9 139726239 1 RABL6 A G exonic synonymous SNV RABL6:NM_001173988:exon6:c.A525G:p.G175G,RABL6:NM_001173989:exon6:c.A525G:p.G175G,RABL6:NM_024718:exon6:c.A525G:p.G175G
9 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 139732462 1 RABL6 C T exonic synonymous SNV RABL6:NM_001173988:exon10:c.C1278T:p.S426S,RABL6:NM_024718:exon10:c.C1275T:p.S425S RS2811740 Diastolic blood pressure (DBP)
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 139848688 2 LCN12 C T exonic synonymous SNV LCN12:NM_178536:exon5:c.C531T:p.I177I RS4880175 Plasma beta-trace protein levels
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 139905141 1 ABCA2 G A exonic synonymous SNV ABCA2:NM_001606:exon40:c.C6105T:p.A2035A,ABCA2:NM_212533:exon40:c.C6195T:p.A2065A
9 139912484 2 ABCA2 A G exonic synonymous SNV ABCA2:NM_001606:exon15:c.T2037C:p.D679D,ABCA2:NM_212533:exon15:c.T2127C:p.D709D
9 139913239 2 ABCA2 T G exonic nonsynonymous SNV ABCA2:NM_001606:exon13:c.A1751C:p.H584P,ABCA2:NM_212533:exon13:c.A1841C:p.H614P
9 139943112 1 ENTPD2 A G exonic synonymous SNV ENTPD2:NM_001246:exon9:c.T1416C:p.I472I,ENTPD2:NM_203468:exon9:c.T1485C:p.I495I RS17853460 Nonsyndromic striae distensae (stretch marks)
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 139975195 1 UAP1L1 C T exonic synonymous SNV UAP1L1:NM_207309:exon7:c.C1233T:p.N411N
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 140120396 2 CYSRT1 C T exonic nonsynonymous SNV CYSRT1:NM_199001:exon2:c.C443T:p.A148V
9 140130606 2 SLC34A3 A T exonic nonsynonymous SNV SLC34A3:NM_001177316:exon13:c.A1538T:p.E513V,SLC34A3:NM_001177317:exon13:c.A1538T:p.E513V,SLC34A3:NM_080877:exon13:c.A1538T:p.E513V
9 140150413 1 NELFB C T exonic synonymous SNV NELFB:NM_015456:exon2:c.C301T:p.L101L
9 140167022 1 NELFB G A exonic synonymous SNV NELFB:NM_015456:exon12:c.G1695A:p.P565P
9 140356422 2 PNPLA7 G C exonic synonymous SNV PNPLA7:NM_152286:exon31:c.C3642G:p.L1214L,PNPLA7:NM_001098537:exon32:c.C3717G:p.L1239L
9 140611436 1 EHMT1 T C exonic synonymous SNV EHMT1:NM_001145527:exon3:c.T444C:p.P148P,EHMT1:NM_024757:exon3:c.T444C:p.P148P RS3812497 Lp-PLA2 activity:Triglycerides:Height
9 140638416 1 EHMT1 G A exonic synonymous SNV EHMT1:NM_001145527:exon6:c.G1044A:p.S348S,EHMT1:NM_024757:exon6:c.G1044A:p.S348S RS1129767 Triglycerides:Refractive error
9 140638461 1 EHMT1 T C exonic synonymous SNV EHMT1:NM_001145527:exon6:c.T1089C:p.G363G,EHMT1:NM_024757:exon6:c.T1089C:p.G363G
10 93394 2 TUBB8 G A exonic nonsynonymous SNV TUBB8:NM_177987:exon4:c.C938T:p.A313V
10 93407 2 TUBB8 G A exonic nonsynonymous SNV TUBB8:NM_177987:exon4:c.C925T:p.R309C
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 3155620 2 PFKP A G exonic synonymous SNV PFKP:NM_001323070:exon8:c.A633G:p.A211A,PFKP:NM_001323074:exon8:c.A633G:p.A211A,PFKP:NM_001323073:exon9:c.A633G:p.A211A,PFKP:NM_001323067:exon13:c.A1200G:p.A400A,PFKP:NM_001323068:exon13:c.A1281G:p.A427A,PFKP:NM_001323069:exon13:c.A774G:p.A258A,PFKP:NM_001345944:exon13:c.A1167G:p.A389A,PFKP:NM_002627:exon13:c.A1281G:p.A427A,PFKP:NM_001323071:exon14:c.A1167G:p.A389A,PFKP:NM_001323072:exon14:c.A1167G:p.A389A,PFKP:NM_001242339:exon15:c.A1257G:p.A419A RS1052309 LDL cholesterol:Adiponectin levels
10 3172121 2 PFKP C T exonic synonymous SNV PFKP:NM_001323070:exon11:c.C993T:p.A331A,PFKP:NM_001323074:exon12:c.C1146T:p.A382A,PFKP:NM_001323073:exon13:c.C1146T:p.A382A,PFKP:NM_001323068:exon16:c.C1641T:p.A547A,PFKP:NM_001323067:exon17:c.C1713T:p.A571A,PFKP:NM_001323069:exon17:c.C1287T:p.A429A,PFKP:NM_001345944:exon17:c.C1680T:p.A560A,PFKP:NM_002627:exon17:c.C1794T:p.A598A,PFKP:NM_001323071:exon18:c.C1680T:p.A560A,PFKP:NM_001323072:exon18:c.C1680T:p.A560A,PFKP:NM_001242339:exon19:c.C1770T:p.A590A RS1052333 Parkinson's disease:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
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 3181126 1 PITRM1 C T exonic nonsynonymous SNV PITRM1:NM_001242309:exon22:c.G2593A:p.V865I,PITRM1:NM_001347725:exon23:c.G2689A:p.V897I,PITRM1:NM_001347726:exon23:c.G2074A:p.V692I,PITRM1:NM_001347730:exon23:c.G2665A:p.V889I,PITRM1:NM_001242307:exon25:c.G2890A:p.V964I,PITRM1:NM_001347727:exon25:c.G2272A:p.V758I,PITRM1:NM_001347728:exon25:c.G1582A:p.V528I,PITRM1:NM_001347729:exon25:c.G2863A:p.V955I,PITRM1:NM_014889:exon25:c.G2887A:p.V963I
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 5043821 1 AKR1C2 A T exonic nonsynonymous SNV AKR1C2:NM_001135241:exon2:c.T137A:p.F46Y,AKR1C2:NM_001321027:exon2:c.T137A:p.F46Y,AKR1C2:NM_205845:exon3:c.T137A:p.F46Y,AKR1C2:NM_001354:exon4:c.T137A:p.F46Y RS2854482 Birth weight
10 5136651 1 AKR1C3 C G exonic nonsynonymous SNV AKR1C3:NM_001253909:exon1:c.C15G:p.H5Q,AKR1C3:NM_003739:exon1:c.C15G:p.H5Q RS12529 Simpson-Angus Scale:2 hour glucose:LDL cholesterol change with statins:Total cholesterol change with statins:Triglycerides:Years of education:College completion
10 5138607 1 AKR1C3 G A exonic synonymous SNV AKR1C3:NM_001253908:exon2:c.G90A:p.P30P,AKR1C3:NM_001253909:exon2:c.G90A:p.P30P,AKR1C3:NM_003739:exon2:c.G90A:p.P30P RS7741 Gene expression of SH3BP5 in peripheral blood monocytes:LDL cholesterol:Total cholesterol:Coronary artery disease (CAD):PROP taste detection threshold:Birth weight
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 5255025 2 AKR1C4 A G exonic nonsynonymous SNV AKR1C4:NM_001818:exon7:c.A749G:p.Q250R
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 5784151 1 FAM208B A G exonic nonsynonymous SNV FAM208B:NM_001321785:exon14:c.A2176G:p.I726V,FAM208B:NM_017782:exon14:c.A2419G:p.I807V,FAM208B:NM_001321783:exon15:c.A2419G:p.I807V,FAM208B:NM_001321784:exon15:c.A2419G:p.I807V
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 5791578 1 FAM208B G T exonic nonsynonymous SNV FAM208B:NM_001321785:exon15:c.G5951T:p.S1984I,FAM208B:NM_017782:exon15:c.G6194T:p.S2065I,FAM208B:NM_001321783:exon16:c.G6194T:p.S2065I,FAM208B:NM_001321784:exon16:c.G6194T:p.S2065I
10 5808086 1 GDI2 G A exonic synonymous SNV GDI2:NM_001115156:exon10:c.C1086T:p.T362T,GDI2:NM_001494:exon11:c.C1221T:p.T407T RS1129614 Gene expression of GDI2 [probe 200009_at] in lymphoblastoid cell lines:Irritible bowel syndrome:HDL cholesterol:Triglycerides:Differential exon level expression of GDI2 [probe 3275143] in peripheral blood mononuclear cells:Differential exon level expression of GDI2 [probe 3275147] in peripheral blood mononuclear cells:Differential exon level expression of GDI2 [probe 3275143] in brain cortex:Chronic kidney disease:HDL cholesterol:LDL cholesterol:Triglycerides:Gene expression of ASB13 in blood:Gene expression of C10orf18///GDI2 in blood:Sporadic Creutzfeldt-Jakob disease:Gene expression of GDI2 in normal prepouch ileum
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 7605101 2 ITIH5 A G exonic nonsynonymous SNV ITIH5:NM_032817:exon10:c.T2132C:p.F711S,ITIH5:NM_030569:exon14:c.T2774C:p.F925S
10 7618501 1 ITIH5 A G exonic synonymous SNV ITIH5:NM_032817:exon6:c.T1251C:p.D417D,ITIH5:NM_001001851:exon10:c.T1893C:p.D631D,ITIH5:NM_030569:exon10:c.T1893C:p.D631D RS2275068 Rheumatoid arthritis
10 7759595 1 ITIH2 C T exonic synonymous SNV ITIH2:NM_002216:exon6:c.C474T:p.S158S
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 11912144 1 PROSER2 C T exonic synonymous SNV PROSER2:NM_153256:exon4:c.C1047T:p.H349H
10 11912332 1 PROSER2 C T exonic nonsynonymous SNV PROSER2:NM_153256:exon4:c.C1235T:p.A412V
10 12071397 1 UPF2 G A exonic synonymous SNV UPF2:NM_015542:exon3:c.C492T:p.L164L,UPF2:NM_080599:exon3:c.C492T:p.L164L
10 12111090 2 DHTKD1 T C exonic nonsynonymous SNV DHTKD1:NM_018706:exon1:c.T58C:p.F20L
10 12148259 2 DHTKD1 A C exonic synonymous SNV DHTKD1:NM_018706:exon11:c.A1911C:p.P637P
10 12148286 2 DHTKD1 T C exonic synonymous SNV DHTKD1:NM_018706:exon11:c.T1938C:p.F646F
10 12149939 2 DHTKD1 C T exonic synonymous SNV DHTKD1:NM_018706:exon12:c.C2079T:p.I693I RS1722462 LDL cholesterol:Total cholesterol:Cystatin C in serum:Height:Microalbuminuria:Years of education
10 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 13230950 1 MCM10 C T exonic synonymous SNV MCM10:NM_018518:exon10:c.C1285T:p.L429L,MCM10:NM_182751:exon10:c.C1288T:p.L430L RS2296222 Salmonella-induced pyroptosis:Adiponectin levels
10 13336485 1 PHYH C T exonic synonymous SNV PHYH:NM_001037537:exon3:c.G57A:p.T19T,PHYH:NM_001323084:exon3:c.G57A:p.T19T,PHYH:NM_001323080:exon4:c.G57A:p.T19T,PHYH:NM_001323082:exon4:c.G357A:p.T119T,PHYH:NM_001323083:exon4:c.G357A:p.T119T,PHYH:NM_006214:exon4:c.G357A:p.T119T
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 13534851 2 BEND7 A G exonic synonymous SNV BEND7:NM_001100912:exon4:c.T480C:p.P160P,BEND7:NM_152751:exon5:c.T441C:p.P147P RS2251555 Total cholesterol change with statins:LDL cholesterol change with statins:HDL cholesterol:Urinary albumin-to-creatinine ratio:Gene expression of UCMA in normal prepouch ileum:Hypertension (early onset hypertension):Gene expression change of BEND7 (ENSG00000165626) in dendritic cells after treatment with Mycobacterium tuberculosis:Refractive error
10 17636309 1 HACD1 G A exonic nonsynonymous SNV HACD1:NM_014241:exon6:c.C679T:p.H227Y RS1053926 HOMA-IR:Fasting insulin:Total cholesterol change with statins
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 21827796 1 MLLT10 G A exonic synonymous SNV MLLT10:NM_001195626:exon2:c.G195A:p.P65P,MLLT10:NM_001195627:exon3:c.G195A:p.P65P,MLLT10:NM_001195628:exon3:c.G195A:p.P65P,MLLT10:NM_001195630:exon3:c.G195A:p.P65P,MLLT10:NM_001324296:exon3:c.G195A:p.P65P,MLLT10:NM_004641:exon3:c.G195A:p.P65P
10 22605398 1 COMMD3;COMMD3-BMI1 C G exonic nonsynonymous SNV COMMD3-BMI1:NM_001204062:exon1:c.C52G:p.R18G,COMMD3:NM_012071:exon1:c.C52G:p.R18G
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 24813454 2 KIAA1217 G A exonic nonsynonymous SNV KIAA1217:NM_001282769:exon8:c.G1708A:p.A570T,KIAA1217:NM_001282770:exon8:c.G1708A:p.A570T,KIAA1217:NM_001321681:exon9:c.G1813A:p.A605T,KIAA1217:NM_001282767:exon12:c.G2554A:p.A852T,KIAA1217:NM_001282768:exon12:c.G2554A:p.A852T,KIAA1217:NM_019590:exon13:c.G2659A:p.A887T,KIAA1217:NM_001098500:exon14:c.G2419A:p.A807T RS10828663 LDL cholesterol change with statins
10 24873369 1 ARHGAP21 C G exonic nonsynonymous SNV ARHGAP21:NM_020824:exon26:c.G5849C:p.S1950T RS1127893 Cystatin C in serum
10 24908686 1 ARHGAP21 T C exonic nonsynonymous SNV ARHGAP21:NM_020824:exon9:c.A2138G:p.N713S RS3748222 Serum creatinine:Cystatin C in serum:Triglycerides:Adiponectin levels
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 27499771 1 ACBD5 G A exonic synonymous SNV ACBD5:NM_001301254:exon6:c.C645T:p.D215D,ACBD5:NM_001301252:exon7:c.C849T:p.D283D,ACBD5:NM_001271512:exon8:c.C1170T:p.D390D,ACBD5:NM_001301251:exon8:c.C849T:p.D283D,ACBD5:NM_001301253:exon8:c.C849T:p.D283D,ACBD5:NM_001042473:exon9:c.C1071T:p.D357D,ACBD5:NM_145698:exon9:c.C1176T:p.D392D
10 27499804 1 ACBD5 T C exonic synonymous SNV ACBD5:NM_001301254:exon6:c.A612G:p.A204A,ACBD5:NM_001301252:exon7:c.A816G:p.A272A,ACBD5:NM_001271512:exon8:c.A1137G:p.A379A,ACBD5:NM_001301251:exon8:c.A816G:p.A272A,ACBD5:NM_001301253:exon8:c.A816G:p.A272A,ACBD5:NM_001042473:exon9:c.A1038G:p.A346A,ACBD5:NM_145698:exon9:c.A1143G:p.A381A
10 27506961 1 ACBD5 G A exonic synonymous SNV ACBD5:NM_001301252:exon5:c.C450T:p.P150P,ACBD5:NM_001271512:exon6:c.C771T:p.P257P,ACBD5:NM_001301251:exon6:c.C450T:p.P150P,ACBD5:NM_001301253:exon6:c.C450T:p.P150P,ACBD5:NM_001042473:exon7:c.C672T:p.P224P,ACBD5:NM_145698:exon7:c.C777T:p.P259P
10 27508758 1 ACBD5 T C exonic synonymous SNV ACBD5:NM_001301252:exon4:c.A192G:p.P64P,ACBD5:NM_001301254:exon4:c.A192G:p.P64P,ACBD5:NM_001271512:exon5:c.A513G:p.P171P,ACBD5:NM_001301251:exon5:c.A192G:p.P64P,ACBD5:NM_001301253:exon5:c.A192G:p.P64P,ACBD5:NM_001042473:exon6:c.A414G:p.P138P,ACBD5:NM_145698:exon6:c.A519G:p.P173P RS10764690 Gene expression of MASTL in peripheral blood monocytes:Partial epilepsy:Gene expression of MASTL in CD4+ lymphocytes:Height:Gene expression of ACBD5 in normal prepouch ileum:Gene expression of MASTL in normal prepouch ileum
10 29783885 2 SVIL A G exonic synonymous SNV SVIL:NM_003174:exon18:c.T2521C:p.L841L,SVIL:NM_001323600:exon19:c.T2617C:p.L873L,SVIL:NM_021738:exon20:c.T3799C:p.L1267L,SVIL:NM_001323599:exon21:c.T2869C:p.L957L
10 29812602 2 SVIL G T exonic synonymous SNV SVIL:NM_003174:exon13:c.C1663A:p.R555R,SVIL:NM_001323600:exon14:c.C1759A:p.R587R,SVIL:NM_021738:exon15:c.C2941A:p.R981R,SVIL:NM_001323599:exon16:c.C2011A:p.R671R RS7070678 Triglycerides:Partial epilepsy:Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease:Platelet thrombus as measured by PFA-100ColA closure time upon shear stress:SVIL expression in platelets
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 32197127 1 ARHGAP12 A G exonic synonymous SNV ARHGAP12:NM_001270699:exon1:c.T657C:p.L219L,ARHGAP12:NM_001270695:exon3:c.T657C:p.L219L,ARHGAP12:NM_001270696:exon3:c.T657C:p.L219L,ARHGAP12:NM_001270697:exon3:c.T657C:p.L219L,ARHGAP12:NM_001270698:exon3:c.T657C:p.L219L,ARHGAP12:NM_018287:exon3:c.T657C:p.L219L
10 33209266 2 ITGB1 G T exonic synonymous SNV ITGB1:NM_033668:exon9:c.C1176A:p.G392G,ITGB1:NM_002211:exon10:c.C1176A:p.G392G,ITGB1:NM_133376:exon10:c.C1176A:p.G392G RS2230396 Salmonella-induced pyroptosis:Gene expression of C10orf68 in normal prepouch ileum
10 33552696 2 NRP1 A G exonic nonsynonymous SNV NRP1:NM_001024628:exon4:c.T536C:p.V179A,NRP1:NM_001024629:exon4:c.T536C:p.V179A,NRP1:NM_001244972:exon4:c.T536C:p.V179A,NRP1:NM_001244973:exon4:c.T536C:p.V179A,NRP1:NM_001330068:exon4:c.T536C:p.V179A,NRP1:NM_003873:exon4:c.T536C:p.V179A
10 34620220 2 PARD3 C T exonic synonymous SNV PARD3:NM_001184791:exon16:c.G2442A:p.S814S,PARD3:NM_001184790:exon17:c.G2397A:p.S799S,PARD3:NM_001184786:exon18:c.G2619A:p.S873S,PARD3:NM_001184788:exon18:c.G2529A:p.S843S,PARD3:NM_001184789:exon18:c.G2529A:p.S843S,PARD3:NM_001184794:exon18:c.G2529A:p.S843S,PARD3:NM_001184785:exon19:c.G2658A:p.S886S,PARD3:NM_001184787:exon19:c.G2667A:p.S889S,PARD3:NM_001184792:exon19:c.G2658A:p.S886S,PARD3:NM_001184793:exon19:c.G2565A:p.S855S,PARD3:NM_019619:exon19:c.G2667A:p.S889S RS3781128 Gene expression of PARD3 in liver:Eye color:Biploar disorder (bipolar schizoaffective disorder):2 hour glucose:Waist hip ratio:Systolic blood pressure (SBP):Adiponectin levels:Mitral annular calcium:Coronary artery disease (CAD)
10 34688287 2 PARD3 G A exonic synonymous SNV PARD3:NM_001184790:exon6:c.C729T:p.H243H,PARD3:NM_001184791:exon6:c.C729T:p.H243H,PARD3:NM_001184785:exon7:c.C861T:p.H287H,PARD3:NM_001184786:exon7:c.C861T:p.H287H,PARD3:NM_001184787:exon7:c.C861T:p.H287H,PARD3:NM_001184788:exon7:c.C861T:p.H287H,PARD3:NM_001184789:exon7:c.C861T:p.H287H,PARD3:NM_001184792:exon7:c.C861T:p.H287H,PARD3:NM_001184793:exon7:c.C861T:p.H287H,PARD3:NM_001184794:exon7:c.C861T:p.H287H,PARD3:NM_019619:exon7:c.C861T:p.H287H
10 38120720 1 ZNF248 C T exonic synonymous SNV ZNF248:NM_001267597:exon6:c.G1563A:p.K521K,ZNF248:NM_021045:exon6:c.G1563A:p.K521K
10 38120945 1 ZNF248 A G exonic synonymous SNV ZNF248:NM_001267597:exon6:c.T1338C:p.C446C,ZNF248:NM_021045:exon6:c.T1338C:p.C446C
10 38407519 1 ZNF37A A G exonic synonymous SNV ZNF37A:NM_001178101:exon7:c.A1440G:p.S480S,ZNF37A:NM_001324245:exon7:c.A1440G:p.S480S,ZNF37A:NM_001324248:exon7:c.A1440G:p.S480S,ZNF37A:NM_001324249:exon7:c.A1440G:p.S480S,ZNF37A:NM_003421:exon7:c.A1440G:p.S480S,ZNF37A:NM_001007094:exon8:c.A1440G:p.S480S,ZNF37A:NM_001324246:exon8:c.A1440G:p.S480S,ZNF37A:NM_001324247:exon8:c.A1440G:p.S480S,ZNF37A:NM_001324250:exon8:c.A1440G:p.S480S,ZNF37A:NM_001324251:exon8:c.A1440G:p.S480S RS176889 Body mass index (BMI)
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 43127456 1 ZNF33B T C exonic synonymous SNV ZNF33B:NM_001305033:exon3:c.A192G:p.K64K,ZNF33B:NM_006955:exon4:c.A171G:p.K57K
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 43315848 1 BMS1 T C exonic synonymous SNV BMS1:NM_014753:exon16:c.T2745C:p.S915S
10 43316120 1 BMS1 C T exonic synonymous SNV BMS1:NM_014753:exon17:c.C2934T:p.C978C
10 43317567 1 BMS1 A G exonic nonsynonymous SNV BMS1:NM_014753:exon19:c.A3067G:p.I1023V
10 48317386 2
10 51361785 1 PARG T C exonic nonsynonymous SNV PARG:NM_001303487:exon3:c.A1073G:p.Q358R,PARG:NM_001303486:exon4:c.A1151G:p.Q384R,PARG:NM_001324381:exon4:c.A1151G:p.Q384R,PARG:NM_003631:exon4:c.A1397G:p.Q466R
10 51361850 1 PARG C T exonic synonymous SNV PARG:NM_001303487:exon3:c.G1008A:p.P336P,PARG:NM_001303486:exon4:c.G1086A:p.P362P,PARG:NM_001324381:exon4:c.G1086A:p.P362P,PARG:NM_003631:exon4:c.G1332A:p.P444P
10 51362945 2 PARG T C exonic nonsynonymous SNV PARG:NM_001303487:exon2:c.A803G:p.H268R,PARG:NM_001303486:exon3:c.A881G:p.H294R,PARG:NM_001324381:exon3:c.A881G:p.H294R,PARG:NM_003631:exon3:c.A1127G:p.H376R
10 51363013 2 PARG G A exonic synonymous SNV PARG:NM_001303487:exon2:c.C735T:p.F245F,PARG:NM_001303486:exon3:c.C813T:p.F271F,PARG:NM_001324381:exon3:c.C813T:p.F271F,PARG:NM_003631:exon3:c.C1059T:p.F353F
10 51363227 2 PARG A G exonic nonsynonymous SNV PARG:NM_001303487:exon2:c.T521C:p.I174T,PARG:NM_001303486:exon3:c.T599C:p.I200T,PARG:NM_001324381:exon3:c.T599C:p.I200T,PARG:NM_003631:exon3:c.T845C:p.I282T
10 51363294 2 PARG T C exonic nonsynonymous SNV PARG:NM_001303487:exon2:c.A454G:p.K152E,PARG:NM_001303486:exon3:c.A532G:p.K178E,PARG:NM_001324381:exon3:c.A532G:p.K178E,PARG:NM_003631:exon3:c.A778G:p.K260E
10 51363304 2 PARG G A exonic synonymous SNV PARG:NM_001303487:exon2:c.C444T:p.D148D,PARG:NM_001303486:exon3:c.C522T:p.D174D,PARG:NM_001324381:exon3:c.C522T:p.D174D,PARG:NM_003631:exon3:c.C768T:p.D256D
10 51363391 2 PARG G C exonic nonsynonymous SNV PARG:NM_001303487:exon2:c.C357G:p.H119Q,PARG:NM_001303486:exon3:c.C435G:p.H145Q,PARG:NM_001324381:exon3:c.C435G:p.H145Q,PARG:NM_003631:exon3:c.C681G:p.H227Q
10 51370975 2 PARG C G exonic nonsynonymous SNV PARG:NM_001303489:exon1:c.G92C:p.R31P
10 51827934 2 WASHC2A G A exonic nonsynonymous SNV WASHC2A:NM_001005751:exon2:c.G73A:p.V25M,WASHC2A:NM_001291398:exon2:c.G73A:p.V25M,WASHC2A:NM_001330102:exon2:c.G73A:p.V25M
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 54528236 1 MBL2 G A exonic synonymous SNV MBL2:NM_000242:exon4:c.C408T:p.N136N
10 54531235 1 MBL2 C T exonic nonsynonymous SNV MBL2:NM_000242:exon1:c.G161A:p.G54D RS1800450 Hip bone mineral density (BMD):Vitiligo:Rheumatoid arthritis:P11226 protein abundance levels:Birth weight:Large artery atherosclerosis
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 61005244 2 PHYHIPL G C exonic nonsynonymous SNV PHYHIPL:NM_001143774:exon5:c.G946C:p.V316L,PHYHIPL:NM_032439:exon5:c.G1024C:p.V342L RS2452505 LDL cholesterol:Total cholesterol change with statins:LDL cholesterol:Total cholesterol:Waist hip ratio
10 61552692 1 CCDC6 G T exonic nonsynonymous SNV CCDC6:NM_005436:exon9:c.C1408A:p.P470T RS1053266 Total cholesterol change with statins:PROP taste detection threshold:Birth weight:Refractive error
10 61552774 1 CCDC6 C T exonic synonymous SNV CCDC6:NM_005436:exon9:c.G1326A:p.P442P
10 61665886 2 CCDC6 C A exonic synonymous SNV CCDC6:NM_005436:exon1:c.G297T:p.V99V RS1171830 LDL cholesterol:Triglycerides change with statins:Serum creatinine:Infant head circumference
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 64565011 1 ADO G A exonic synonymous SNV ADO:NM_032804:exon1:c.G192A:p.E64E
10 64945364 1 JMJD1C G A exonic synonymous SNV JMJD1C:NM_001322254:exon18:c.C6132T:p.D2044D,JMJD1C:NM_001282948:exon19:c.C6243T:p.D2081D,JMJD1C:NM_001318153:exon19:c.C5925T:p.D1975D,JMJD1C:NM_001322252:exon19:c.C6675T:p.D2225D,JMJD1C:NM_001322258:exon19:c.C6132T:p.D2044D,JMJD1C:NM_001318154:exon20:c.C6243T:p.D2081D,JMJD1C:NM_032776:exon20:c.C6789T:p.D2263D RS3211105 Spine bone mineral density (BMD):Triglycerides:Gene expression of [probe 7650136 centered at chr10:64587059] in blood:Platelet count:Salmonella-induced pyroptosis:College completion
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 64973978 1 JMJD1C G A exonic nonsynonymous SNV JMJD1C:NM_001322254:exon6:c.C1292T:p.T431I,JMJD1C:NM_001282948:exon7:c.C1403T:p.T468I,JMJD1C:NM_001318153:exon7:c.C1085T:p.T362I,JMJD1C:NM_001322252:exon7:c.C1835T:p.T612I,JMJD1C:NM_001322258:exon7:c.C1292T:p.T431I,JMJD1C:NM_001318154:exon8:c.C1403T:p.T468I,JMJD1C:NM_032776:exon8:c.C1949T:p.T650I
10 64974537 1 JMJD1C A T exonic nonsynonymous SNV JMJD1C:NM_001322254:exon6:c.T733A:p.S245T,JMJD1C:NM_001282948:exon7:c.T844A:p.S282T,JMJD1C:NM_001318153:exon7:c.T526A:p.S176T,JMJD1C:NM_001322252:exon7:c.T1276A:p.S426T,JMJD1C:NM_001322258:exon7:c.T733A:p.S245T,JMJD1C:NM_001318154:exon8:c.T844A:p.S282T,JMJD1C:NM_032776:exon8:c.T1390A:p.S464T RS10761725 Gene expression of probe 241391_at in lymphoblastoid cell lines:Triglycerides:Triglycerides change with statins:HDL cholesterol change with statins:HDL cholesterol:LDL cholesterol:Triglycerides:Adiponectin levels:Years of education:College completion:Platelet count
10 70101352 1 HNRNPH3 T C exonic synonymous SNV HNRNPH3:NM_001322444:exon6:c.T462C:p.Y154Y,HNRNPH3:NM_001322445:exon7:c.T393C:p.Y131Y,HNRNPH3:NM_001322446:exon7:c.T393C:p.Y131Y,HNRNPH3:NM_001322447:exon7:c.T393C:p.Y131Y,HNRNPH3:NM_001322448:exon7:c.T393C:p.Y131Y,HNRNPH3:NM_001322449:exon7:c.T393C:p.Y131Y,HNRNPH3:NM_001322450:exon7:c.T375C:p.Y125Y,HNRNPH3:NM_001322451:exon7:c.T279C:p.Y93Y,HNRNPH3:NM_001322452:exon7:c.T279C:p.Y93Y,HNRNPH3:NM_001322453:exon7:c.T279C:p.Y93Y,HNRNPH3:NM_001322434:exon8:c.T786C:p.Y262Y,HNRNPH3:NM_001322436:exon8:c.T786C:p.Y262Y,HNRNPH3:NM_001322437:exon8:c.T786C:p.Y262Y,HNRNPH3:NM_001322438:exon8:c.T741C:p.Y247Y,HNRNPH3:NM_001322439:exon8:c.T741C:p.Y247Y,HNRNPH3:NM_001322440:exon8:c.T741C:p.Y247Y,HNRNPH3:NM_001322441:exon8:c.T741C:p.Y247Y,HNRNPH3:NM_001322442:exon8:c.T768C:p.Y256Y,HNRNPH3:NM_001322443:exon8:c.T768C:p.Y256Y,HNRNPH3:NM_012207:exon8:c.T786C:p.Y262Y,HNRNPH3:NM_021644:exon8:c.T741C:p.Y247Y
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 70502288 2 CCAR1 G A exonic synonymous SNV CCAR1:NM_001282959:exon5:c.G435A:p.T145T,CCAR1:NM_001282960:exon5:c.G435A:p.T145T,CCAR1:NM_018237:exon6:c.G480A:p.T160T RS1300253 Hip bone mineral density (BMD):HDL cholesterol change with statins:Late onset Alzheimer's disease:Bipolar disorder in alcoholics:Bipolar disorder in non-alcoholics:Adiponectin levels
10 70696713 2 DDX50 C T exonic synonymous SNV DDX50:NM_024045:exon12:c.C1617T:p.Y539Y RS5030895 Aortic valve calcium
10 70700944 2 DDX50 A G exonic synonymous SNV DDX50:NM_024045:exon13:c.A1884G:p.G628G
10 70892791 1 VPS26A C T exonic nonsynonymous SNV VPS26A:NM_001318944:exon2:c.C14T:p.P5L,VPS26A:NM_001318945:exon2:c.C14T:p.P5L RS5030932 Fasting blood glucose:Total cholesterol:LDL cholesterol:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Adiponectin levels:Mitral annular calcium:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
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 71026510 1 HKDC1 C A exonic nonsynonymous SNV HKDC1:NM_025130:exon18:c.C2751A:p.N917K RS906219 2 hour glucose:Triglycerides change with statins:Attention-deficit/hyperactivity disorder (ADHD):Body mass index (BMI):Gene expression of SUPV3L1 in blood:Advanced age-related macular degeneration (geographic atrophy)
10 71392692 2 C10orf35 T C exonic synonymous SNV C10orf35:NM_145306:exon4:c.T243C:p.L81L RS1052152 Bipolar disorder, combined control dataset, gender differentiated:Gene expression of AF147422 in liver:Gene expression of C10orf35 in liver:2 hour glucose:Fasting blood glucose:Cystatin C in serum:PROP taste detection threshold:Adiponectin levels
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 71905695 1 TYSND1 A G exonic synonymous SNV TYSND1:NM_001040273:exon1:c.T648C:p.G216G,TYSND1:NM_173555:exon1:c.T648C:p.G216G
10 72614524 1 SGPL1 A G exonic synonymous SNV SGPL1:NM_003901:exon5:c.A321G:p.K107K RS11597050 Mitral annular calcium:Acute lung injury following major trauma
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 73111408 2 SLC29A3 C T exonic nonsynonymous SNV SLC29A3:NM_001174098:exon4:c.C473T:p.S158F,SLC29A3:NM_018344:exon4:c.C473T:p.S158F RS780668 Gene expression of SLC29A3 [probe 3251023] in peripheral blood mononuclear cells:Gene expression of SLC29A3 in blood
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 75527708 1 SEC24C A G exonic synonymous SNV SEC24C:NM_198597:exon15:c.A2124G:p.T708T,SEC24C:NM_004922:exon16:c.A2124G:p.T708T RS4746147 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 75559077 1 ZSWIM8 G A exonic synonymous SNV ZSWIM8:NM_001242487:exon21:c.G4479A:p.P1493P,ZSWIM8:NM_001242488:exon21:c.G4479A:p.P1493P,ZSWIM8:NM_015037:exon21:c.G4494A:p.P1498P RS11000780 Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Mitral annular calcium
10 75865065 2 VCL G A exonic synonymous SNV VCL:NM_003373:exon16:c.G2388A:p.P796P,VCL:NM_014000:exon16:c.G2388A:p.P796P RS767809 Cystatin C in serum:Chronic kidney disease:Rheumatoid arthritis:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):PROP taste detection threshold
10 76854564 1 DUSP13 C T exonic nonsynonymous SNV DUSP13:NM_001007272:exon4:c.G617A:p.C206Y,DUSP13:NM_016364:exon4:c.G467A:p.C156Y,DUSP13:NM_001320843:exon5:c.G467A:p.C156Y,DUSP13:NM_001007273:exon6:c.G746A:p.C249Y,DUSP13:NM_001320842:exon7:c.G746A:p.C249Y RS3088142 Hip bone mineral density (BMD):Triglycerides:HDL cholesterol:Triglycerides
10 76855421 1 DUSP13 G A exonic synonymous SNV DUSP13:NM_001007272:exon3:c.C456T:p.I152I,DUSP13:NM_016364:exon3:c.C306T:p.I102I,DUSP13:NM_001320843:exon4:c.C306T:p.I102I,DUSP13:NM_001007273:exon5:c.C585T:p.I195I,DUSP13:NM_001320842:exon6:c.C585T:p.I195I RS3740316 Height
10 76861680 1 DUSP13 T C exonic nonsynonymous SNV DUSP13:NM_001007273:exon3:c.A223G:p.S75G,DUSP13:NM_001320842:exon4:c.A223G:p.S75G RS6480771 Hip bone mineral density (BMD):Gene expression of COMTD1 in blood
10 77158588 1 ZNF503 G A exonic synonymous SNV ZNF503:NM_032772:exon2:c.C1860T:p.P620P
10 77807027 2 LRMDA T C exonic synonymous SNV LRMDA:NM_032024:exon3:c.T280C:p.L94L,LRMDA:NM_001305581:exon4:c.T364C:p.L122L RS1898071 Fasting insulin:HOMA-IR:LDL cholesterol:Total cholesterol
10 79566632 1 DLG5 G A exonic synonymous SNV DLG5:NM_004747:exon26:c.C4851T:p.D1617D RS1058198 LDL cholesterol:HDL cholesterol change with statins:Height:Gene expression of DLG5 in normal prepouch ileum:Years of education:College completion
10 79584178 1 DLG5 G C exonic synonymous SNV DLG5:NM_004747:exon14:c.C2346G:p.R782R RS1248629 Years of education
10 79616605 2 DLG5 T C exonic nonsynonymous SNV DLG5:NM_004747:exon3:c.A419G:p.Q140R RS1248696 Arthritis including non-Rheumatoid:Longstanding arthritis:HDL cholesterol change with statins:Asthma:Late onset Alzheimer's disease
10 79744035 1 POLR3A C T exonic synonymous SNV POLR3A:NM_007055:exon25:c.G3264A:p.Q1088Q
10 81926702 2 ANXA11 G A exonic nonsynonymous SNV ANXA11:NM_001157:exon6:c.C688T:p.R230C,ANXA11:NM_145868:exon7:c.C688T:p.R230C,ANXA11:NM_001278407:exon8:c.C688T:p.R230C,ANXA11:NM_001278408:exon8:c.C688T:p.R230C,ANXA11:NM_001278409:exon8:c.C589T:p.R197C,ANXA11:NM_145869:exon8:c.C688T:p.R230C RS1049550 Sarcoidosis:LDL cholesterol:Total cholesterol:Rheumatoid arthritis:Chemosensitivity to targeted regimes in metastatic colorectal cancer (Bevacizumab regimen - disease control response):Chemosensitivity to targeted regimes in metastatic colorectal cancer (Bevacizumab+5-FU/leucovorin+irinotecan regime):Chemosensitivity to targeted regimes in metastatic colorectal cancer (Bevacizumab regimen):Mitral annular calcium:Birth weight:Sarcoidosis
10 82034842 2 MAT1A A G exonic synonymous SNV MAT1A:NM_000429:exon7:c.T882C:p.A294A RS10887711 Years of education:Gene expression of MAT1A (probeID ILMN_1767657) in temporal cortex in non-Alzheimer's disease samples:Gene expression of MAT1A (probeID ILMN_1767657) in temporal cortex in Alzheimer's disease cases:Gene expression of MAT1A (probeID ILMN_1767657) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:College completion
10 82034854 2 MAT1A T C exonic synonymous SNV MAT1A:NM_000429:exon7:c.A870G:p.V290V RS10788546 Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of MAT1A (probeID ILMN_1767657) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of MAT1A (probeID ILMN_1767657) in temporal cortex in Alzheimer's disease cases:Gene expression of MAT1A (probeID ILMN_1767657) in temporal cortex in non-Alzheimer's disease samples:Advanced age-related macular degeneration:College completion
10 82040052 2 MAT1A A G exonic synonymous SNV MAT1A:NM_000429:exon5:c.T426C:p.A142A RS1143694 Chronic kidney disease:Gene expression of TSPAN14 in peripheral blood monocytes:Gene expression of ANXA11 in peripheral blood monocytes
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 88277457 2 WAPL C T exonic nonsynonymous SNV WAPL:NM_001318328:exon2:c.G370A:p.V124I,WAPL:NM_015045:exon2:c.G370A:p.V124I RS10887621 Eye color:Barnes Akathisia Rating Scale:Alzheimer's disease:Total cholesterol:HDL cholesterol:Waist hip ratio:Sporadic Creutzfeldt-Jakob disease:Salmonella-induced pyroptosis:Years of education:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
10 88683426 1 BMPR1A A G exonic nonsynonymous SNV BMPR1A:NM_004329:exon13:c.A1549G:p.I517V
10 88719789 2 SNCG C G exonic nonsynonymous SNV SNCG:NM_001330120:exon5:c.C247G:p.R83G
10 88930249 1 FAM35A A T exonic nonsynonymous SNV FAM35A:NM_001330112:exon5:c.A1648T:p.S550C,FAM35A:NM_019054:exon5:c.A1648T:p.S550C RS11202365 Total cholesterol change with statins:Rheumatoid arthritis:Aortic valve calcium:Adiponectin levels:Refractive error
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 91479211 2 KIF20B G T exonic nonsynonymous SNV KIF20B:NM_001284259:exon13:c.G1470T:p.E490D,KIF20B:NM_016195:exon13:c.G1470T:p.E490D RS17484219 Advanced age-related macular degeneration (geographic atrophy)
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 93717014 2 BTAF1 A G exonic synonymous SNV BTAF1:NM_003972:exon8:c.A864G:p.E288E
10 95259979 1 CEP55 C G exonic nonsynonymous SNV CEP55:NM_001127182:exon2:c.C171G:p.H57Q,CEP55:NM_018131:exon2:c.C171G:p.H57Q RS3740370 Triglycerides change with statins
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 95441272 1 FRA10AC1 G A exonic nonsynonymous SNV FRA10AC1:NM_001347712:exon11:c.C752T:p.S251F,FRA10AC1:NM_001347714:exon11:c.C752T:p.S251F,FRA10AC1:NM_145246:exon11:c.C752T:p.S251F,FRA10AC1:NM_001347713:exon12:c.C752T:p.S251F,FRA10AC1:NM_001347715:exon12:c.C752T:p.S251F RS11187583 LDL cholesterol:Parkinson's disease:Gene expression of FRA10AC1 in normal prepouch ileum
10 95454681 1 FRA10AC1 G C exonic nonsynonymous SNV FRA10AC1:NM_001347712:exon5:c.C233G:p.T78R,FRA10AC1:NM_001347714:exon5:c.C233G:p.T78R,FRA10AC1:NM_145246:exon5:c.C233G:p.T78R,FRA10AC1:NM_001347713:exon6:c.C233G:p.T78R,FRA10AC1:NM_001347715:exon6:c.C233G:p.T78R RS2275438 PROP taste detection threshold:Adiponectin levels:Refractive error:Parkinson's disease
10 95459817 2 FRA10AC1 C T exonic nonsynonymous SNV FRA10AC1:NM_001347712:exon2:c.G47A:p.R16H,FRA10AC1:NM_001347714:exon2:c.G47A:p.R16H,FRA10AC1:NM_145246:exon2:c.G47A:p.R16H,FRA10AC1:NM_001347713:exon3:c.G47A:p.R16H,FRA10AC1:NM_001347715:exon3:c.G47A:p.R16H RS726817 Differential exon level expression of C10orf4 [probe 3300820] in brain cortex:Differential exon level expression of C10orf4 [probe 3300820] in peripheral blood mononuclear cells:Gene expression of C10orf4 in blood:Chronic fatigue syndrome:Resistance to kuru in aged women despite likely exposure:Refractive error
10 96104665 1 NOC3L T G exonic nonsynonymous SNV NOC3L:NM_022451:exon12:c.A1415C:p.E472A RS3758526 Total cholesterol change with statins:LDL cholesterol change with statins:Triglycerides:Microalbuminuria:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Birth weight:Advanced age-related macular degeneration:Adiponectin levels
10 97447373 2 TCTN3 A T exonic synonymous SNV TCTN3:NM_015631:exon4:c.T603A:p.T201T
10 98287792 1 TM9SF3 G T exonic synonymous SNV TM9SF3:NM_020123:exon12:c.C1537A:p.R513R RS12779720 Triglycerides
10 98369536 1 PIK3AP1 A G exonic synonymous SNV PIK3AP1:NM_152309:exon14:c.T2103C:p.S701S RS3748236 Microalbuminuria
10 98380137 1 PIK3AP1 T C exonic nonsynonymous SNV PIK3AP1:NM_152309:exon12:c.A1913G:p.K638R RS12784975 2 hour glucose
10 98380277 1 PIK3AP1 C T exonic synonymous SNV PIK3AP1:NM_152309:exon12:c.G1773A:p.S591S RS3748234 Fasting insulin
10 98386558 2 PIK3AP1 G A exonic synonymous SNV PIK3AP1:NM_152309:exon10:c.C1576T:p.L526L
10 99019177 2 ARHGAP19 A G exonic synonymous SNV ARHGAP19:NM_001204300:exon5:c.T822C:p.H274H,ARHGAP19:NM_001256423:exon5:c.T795C:p.H265H,ARHGAP19:NM_032900:exon5:c.T822C:p.H274H RS2253301 Fasting blood glucose:Infant head circumference
10 99116903 1 RRP12 C T exonic nonsynonymous SNV RRP12:NM_001284337:exon31:c.G3542A:p.R1181Q,RRP12:NM_001145114:exon32:c.G3659A:p.R1220Q,RRP12:NM_015179:exon34:c.G3842A:p.R1281Q RS1048445 Differential exon level expression of RRP12 [probe 3302249] in brain cortex:Gene expression of RRP12 [probe 3302240] in peripheral blood mononuclear cells:Differential exon level expression of RRP12 [probe 3302260] in peripheral blood mononuclear cells:Urinary albumin-to-creatinine ratio:Gene expression of RRP12 in blood:Gene expression of RP11-452K12.9 in blood:Gene expression of FRAT1 in blood:Gene expression of FRAT2 in blood:Gene expression of RRP12 [probeset 216913_s_at] in sputum:Refractive error:Gene expression change of FRAT2 (ENSG00000181274) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of FRAT2 (ENSG00000181274) in dendritic cells:Gene expression of FRAT2 (ENSG00000181274) in dendritic cells treated with Mycobacterium tuberculosis:Birth weight
10 99125949 1 RRP12 C T exonic nonsynonymous SNV RRP12:NM_001284337:exon26:c.G3133A:p.G1045S,RRP12:NM_001145114:exon27:c.G3250A:p.G1084S,RRP12:NM_015179:exon29:c.G3433A:p.G1145S RS2275580 Spine bone mineral density (BMD):Total cholesterol change with statins:Body mass index (BMI):Gene expression of RP11-452K12.9 in blood:Gene expression of RRP12 in blood:Gene expression of FRAT1 in blood:Gene expression of RP11-452K12.9///ZDHHC16 in blood:Gene expression of FRAT2 in blood:Gene expression of SLIT1 in blood:Gene expression of RRP12 [probeset 216913_s_at] in sputum
10 99126249 1 RRP12 G A exonic synonymous SNV RRP12:NM_001284337:exon25:c.C3045T:p.D1015D,RRP12:NM_001145114:exon26:c.C3162T:p.D1054D,RRP12:NM_015179:exon28:c.C3345T:p.D1115D RS2275581 Gene expression of KIAA0690 in blood cells in Celiac disease:Differential exon level expression of RRP12 [probe 3302249] in brain cortex:Differential exon level expression of RRP12 [probe 3302260] in peripheral blood mononuclear cells:Gene expression of RRP12 [probe 3302240] in peripheral blood mononuclear cells:Urinary albumin-to-creatinine ratio:Gene expression of FRAT1 in blood:Gene expression of FRAT2 in blood:Gene expression of RRP12 in blood:Gene expression of RP11-452K12.9 in blood:Gene expression of RRP12 [probeset 216913_s_at] in sputum:Birth weight:Gene expression of RRP12 in normal prepouch ileum
10 99141205 1 RRP12 A G exonic synonymous SNV RRP12:NM_001284337:exon9:c.T1056C:p.A352A,RRP12:NM_001145114:exon10:c.T1173C:p.A391A,RRP12:NM_015179:exon12:c.T1356C:p.A452A RS2275089 Urinary albumin-to-creatinine ratio:Aortic valve calcium:Gene expression of RRP12 (probeID ILMN_1767253) in whole blood
10 99141484 1 RRP12 C T exonic synonymous SNV RRP12:NM_001284337:exon8:c.G1008A:p.T336T,RRP12:NM_001145114:exon9:c.G1125A:p.T375T,RRP12:NM_015179:exon11:c.G1308A:p.T436T
10 99160152 1 RRP12 A G exonic synonymous SNV RRP12:NM_001145114:exon2:c.T279C:p.G93G,RRP12:NM_001284337:exon2:c.T279C:p.G93G,RRP12:NM_015179:exon2:c.T279C:p.G93G RS1048442 Multiple sclerosis:Gene expression of KIAA0690 in blood cells in Celiac disease:Gene expression of RRP12 [probe 3302240] in peripheral blood mononuclear cells:Differential exon level expression of RRP12 [probe 3302249] in brain cortex:Differential exon level expression of RRP12 [probe 3302260] in peripheral blood mononuclear cells:Urinary albumin-to-creatinine ratio:Gene expression of SLIT1 in blood:Gene expression of RRP12 in blood:Gene expression of FRAT2 in blood:Gene expression of FRAT1 in blood:Gene expression of RRP12 [probeset 216913_s_at] in sputum:Refractive error:Gene expression of RRP12 (probeID ILMN_1767253) in whole blood
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 99358901 1 HOGA1 G A exonic synonymous SNV HOGA1:NM_138413:exon3:c.G396A:p.A132A
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 99969475 1 R3HCC1L A C exonic nonsynonymous SNV R3HCC1L:NM_001351016:exon2:c.A1604C:p.D535A,R3HCC1L:NM_001351013:exon3:c.A1604C:p.D535A,R3HCC1L:NM_001256620:exon4:c.A1604C:p.D535A,R3HCC1L:NM_001351012:exon4:c.A1604C:p.D535A,R3HCC1L:NM_001351017:exon4:c.A1604C:p.D535A,R3HCC1L:NM_014472:exon4:c.A1604C:p.D535A,R3HCC1L:NM_001256619:exon5:c.A1604C:p.D535A,R3HCC1L:NM_001351015:exon5:c.A1604C:p.D535A,R3HCC1L:NM_138469:exon5:c.A1604C:p.D535A,R3HCC1L:NM_001351011:exon6:c.A1604C:p.D535A,R3HCC1L:NM_001351014:exon6:c.A1604C:p.D535A,R3HCC1L:NM_001351010:exon7:c.A1604C:p.D535A
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 100013438 1 LOXL4 C T exonic synonymous SNV LOXL4:NM_032211:exon11:c.G1707A:p.A569A
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 101502968 1 CUTC A G exonic synonymous SNV CUTC:NM_015960:exon4:c.A252G:p.P84P RS3740076 Hip bone mineral density (BMD):Primary rhegmatogenous retinal detachment:Gene expression change of CUTC (ENSG00000119929) in dendritic cells after treatment with Mycobacterium tuberculosis
10 101544447 2 ABCC2 A T exonic nonsynonymous SNV ABCC2:NM_000392:exon2:c.A116T:p.Y39F
10 101563815 1 ABCC2 G A exonic nonsynonymous SNV ABCC2:NM_000392:exon10:c.G1249A:p.V417I RS2273697 Tardive dyskinesia:Major depressive disorder:Gene expression of SLC25A28 in peripheral blood monocytes:Gene expression of SLC25A28 in blood:Gene expression of COX15 in blood
10 101604207 1 ABCC2 C T exonic synonymous SNV ABCC2:NM_000392:exon28:c.C3972T:p.I1324I RS3740066 LDL cholesterol:Total cholesterol:LDL cholesterol:Height:Irinotecan-related severe toxicities in treatment of non-small-cell lung cancer (grade 3 diarrhea):College completion
10 101639796 1 DNMBP G A exonic synonymous SNV DNMBP:NM_001318326:exon13:c.C3216T:p.S1072S,DNMBP:NM_001318327:exon13:c.C2184T:p.S728S,DNMBP:NM_015221:exon16:c.C4320T:p.S1440S RS2255901 LDL cholesterol:Total cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
10 101639877 1 DNMBP A C exonic nonsynonymous SNV DNMBP:NM_001318326:exon13:c.T3135G:p.C1045W,DNMBP:NM_001318327:exon13:c.T2103G:p.C701W,DNMBP:NM_015221:exon16:c.T4239G:p.C1413W RS11190305 Spine bone mineral density (BMD):Hip bone mineral density (BMD):LDL cholesterol:Tardive dyskinesia:Abnormal Involuntary Movement Scale:AraC toxicity as measured by AraC IC50 in lymphoblastoid cell lines:Total cholesterol:LDL cholesterol:Plasma renin activity:Height:Gene expression of DNMBP [probeset 212838_at] in sputum:College completion:Years of education
10 101645498 1 DNMBP T C exonic synonymous SNV DNMBP:NM_001318326:exon11:c.A2640G:p.P880P,DNMBP:NM_001318327:exon11:c.A1608G:p.P536P,DNMBP:NM_015221:exon14:c.A3744G:p.P1248P RS2490763 LDL cholesterol:Height:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
10 102684380 1 SLF2 C A exonic nonsynonymous SNV SLF2:NM_001136123:exon5:c.C1622A:p.S541Y,SLF2:NM_018121:exon5:c.C1622A:p.S541Y RS10883563 Gene expression of MRPL43 [probe 230026_at] in lymphoblastoid cell lines:Gene expression of MRPL43 [probe 224332_s_at] in lymphoblastoid cell lines:Total cholesterol change with statins:Height:Gene expression of KAZALD1 [transcript NM_030929, probe A_23_P421011] in liver:Gene expression of FAM178A in blood:Gene expression of MRPL43 in blood:Gene expression of MRPL43///SEMA4G in blood:Gene expression of SEMA4G///MRPL43 in blood:Refractive error:Gene expression of MRPL43 (probeID ILMN_1652147) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MRPL43 (probeID ILMN_1652147) in temporal cortex in Alzheimer's disease cases and controls
10 102740673 1 SEMA4G G A exonic nonsynonymous SNV SEMA4G:NM_001203244:exon12:c.G1562A:p.R521Q,SEMA4G:NM_017893:exon12:c.G1562A:p.R521Q
10 102744376 1 SEMA4G T C exonic nonsynonymous SNV SEMA4G:NM_001203244:exon14:c.T1835C:p.M612T RS11190780 HOMA-IR:Fasting insulin:Total cholesterol:Lp-PLA2 mass:Body mass index (BMI):Gene expression of PDZD7 [probe ILMN_25299] in osteoblasts treated with dexamethasone:Gene expression of MRPL43 [probeset 230026_at] in sputum:Hypertension (early onset hypertension):Refractive error:Infant head circumference
10 102748606 1 TWNK C T exonic synonymous SNV TWNK:NM_001163812:exon1:c.C639T:p.G213G,TWNK:NM_021830:exon1:c.C639T:p.G213G
10 102824349 2 KAZALD1 G C exonic nonsynonymous SNV KAZALD1:NM_001319303:exon4:c.G350C:p.G117A,KAZALD1:NM_030929:exon4:c.G764C:p.G255A RS807037 Cystatin C in serum:Refractive error
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 104184081 2 CUEDC2 G A exonic synonymous SNV CUEDC2:NM_024040:exon5:c.C351T:p.P117P RS1044476 Gene expression of C10orf95 [transcript NM_024886, probe A_23_P138480] in liver
10 104229785 1 MFSD13A C T exonic synonymous SNV MFSD13A:NM_024789:exon4:c.C204T:p.P68P
10 104231054 1 MFSD13A A G exonic synonymous SNV MFSD13A:NM_024789:exon6:c.A729G:p.V243V RS11191295 Height:Gene expression of SUFU [transcript NM_016169, probe A_23_P425304] in liver:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Refractive error
10 104572963 1 WBP1L T C exonic nonsynonymous SNV WBP1L:NM_001083913:exon4:c.T967C:p.S323P,WBP1L:NM_017787:exon4:c.T904C:p.S302P RS284860 Gene expression of C10orf26 in CEU-CHB-JPT lymphoblastoid cell lines:Fasting blood glucose:Triglycerides change with statins:Height:Body mass index (BMI):Bipolar disorder:Gene expression of C10orf32 (probeID ILMN_2151056) in temporal cortex in Alzheimer's disease cases and controls:College completion:Coronary artery disease (CAD):Aortic valve calcium:Gene expression of C10orf32 (probeID ILMN_2151056) in cerebellum in Alzheimer's disease cases and controls:Obesity with early age of onset (age >2):Gene expression of C10orf32 in normal prepouch ileum:Gene expression of AS3MT (probeID ILMN_1771732) in cerebellum in Alzheimer's disease cases and controls:Gene expression of AS3MT (probeID ILMN_1771732) in temporal cortex in Alzheimer's disease cases and controls
10 104814162 1 CNNM2 T C exonic synonymous SNV CNNM2:NM_017649:exon3:c.T1842C:p.S614S,CNNM2:NM_199076:exon3:c.T1842C:p.S614S RS2275271 Methylation levels at chr10:104943598-104943648 [hg18 coord, probe cg00035347] in Temporal cortex:Methylation levels at chr10:104943598-104943648 [hg18 coord, probe cg00035347] in Caudal pons:Height:Body mass index (BMI):Microalbuminuria:Bipolar disorder:Coronary artery disease (CAD):Infant head circumference
10 104835919 1 CNNM2 C T exonic synonymous SNV CNNM2:NM_199076:exon6:c.C2244T:p.A748A,CNNM2:NM_017649:exon7:c.C2310T:p.A770A RS943037 Body mass index (BMI):Urinary albumin-to-creatinine ratio:Microalbuminuria:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Advanced age-related macular degeneration:Birth weight:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Coronary artery disease (CAD):Obesity with early age of onset (age >2)
10 104849468 1 NT5C2 G A exonic synonymous SNV NT5C2:NM_001351181:exon16:c.C1074T:p.D358D,NT5C2:NM_001351174:exon17:c.C1560T:p.D520D,NT5C2:NM_001351183:exon17:c.C1074T:p.D358D,NT5C2:NM_001351191:exon17:c.C1074T:p.D358D,NT5C2:NM_001134373:exon18:c.C1647T:p.D549D,NT5C2:NM_001351176:exon18:c.C1074T:p.D358D,NT5C2:NM_001351180:exon18:c.C1074T:p.D358D,NT5C2:NM_001351192:exon18:c.C1074T:p.D358D,NT5C2:NM_001351194:exon18:c.C933T:p.D311D,NT5C2:NM_001351169:exon19:c.C1647T:p.D549D,NT5C2:NM_001351170:exon19:c.C1671T:p.D557D,NT5C2:NM_001351173:exon19:c.C1671T:p.D557D,NT5C2:NM_001351177:exon19:c.C1074T:p.D358D,NT5C2:NM_001351184:exon19:c.C1074T:p.D358D,NT5C2:NM_001351185:exon19:c.C1074T:p.D358D,NT5C2:NM_001351188:exon19:c.C1074T:p.D358D,NT5C2:NM_001351189:exon19:c.C1074T:p.D358D,NT5C2:NM_001351190:exon19:c.C1074T:p.D358D,NT5C2:NM_001351193:exon19:c.C1074T:p.D358D,NT5C2:NM_012229:exon19:c.C1647T:p.D549D,NT5C2:NM_001351171:exon20:c.C1671T:p.D557D,NT5C2:NM_001351172:exon20:c.C1671T:p.D557D,NT5C2:NM_001351175:exon20:c.C1554T:p.D518D,NT5C2:NM_001351179:exon20:c.C1074T:p.D358D,NT5C2:NM_001351182:exon20:c.C1074T:p.D358D,NT5C2:NM_001351195:exon20:c.C933T:p.D311D,NT5C2:NM_001351197:exon20:c.C1074T:p.D358D,NT5C2:NM_001351178:exon21:c.C1074T:p.D358D,NT5C2:NM_001351186:exon21:c.C1074T:p.D358D,NT5C2:NM_001351196:exon21:c.C933T:p.D311D,NT5C2:NM_001351187:exon22:c.C1074T:p.D358D RS3740387 Methylation levels at chr10:104943598-104943648 [hg18 coord, probe cg00035347] in Temporal cortex:Methylation levels at chr10:104943598-104943648 [hg18 coord, probe cg00035347] in Frontal cortex:Methylation levels at chr10:104943598-104943648 [hg18 coord, probe cg00035347] in Caudal pons:Height:Body mass index (BMI):Bipolar disorder:Advanced age-related macular degeneration:Coronary artery disease (CAD):Infant head circumference
10 105194086 2 PDCD11 C T exonic nonsynonymous SNV PDCD11:NM_014976:exon24:c.C3646T:p.L1216F RS2986014 Gene expression of USMG5 in JPT lymphoblastoid cell lines:Gene expression of USMG5 in blood cells in Celiac disease:Differential exon level expression of USMG5 [probe 3304753] in peripheral blood mononuclear cells:Gene expression of USMG5 [probe ILMN_10409] in osteoblasts:Cystatin C in serum:Gene expression of FREM1 in peripheral blood monocytes:Gene expression of USMG5 in peripheral blood monocytes:Gene expression of USMG5 in CD4+ lymphocytes:Waist hip ratio:T-cell recognition in leukemia patients (minor histocompatibility antigens):Gene expression of RP11-792D24.4///hsa-mir in blood:Gene expression of hsa-miR-1307 in abdominal adipose:Gene expression of USMG5 in liver:Gene expression of USMG5 (probeID ILMN_1773313) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of USMG5 (probeID ILMN_1773313) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression change of PDCD11 (ENSG00000148843) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of USMG5 (probeID ILMN_1773313) in cerebellum in non-Alzheimer's disease samples:Gene expression of USMG5 (probeID ILMN_1773313) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of USMG5 (probeID ILMN_1773313) in cerebellum in Alzheimer's disease cases:Gene expression of USMG5 (probeID ILMN_1773313) in temporal cortex in Alzheimer's disease cases:Gene expression of USMG5 (probeID ILMN_1773313) in cerebellum in Alzheimer's disease cases and controls
10 105205302 2 PDCD11 A C exonic nonsynonymous SNV PDCD11:NM_014976:exon36:c.A5612C:p.D1871A RS7831 Gene expression of USMG5 in CHB-JPT lymphoblastoid cell lines:Abnormal Involuntary Movement Scale:HDL cholesterol:Cystatin C in serum:Serum creatinine:Gene expression of USMG5 in peripheral blood monocytes:Waist hip ratio:Systolic blood pressure (SBP):Gene expression of USMG5 (probeID ILMN_1773313) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of USMG5 (probeID ILMN_1773313) in cerebellum in Alzheimer's disease cases and controls:Gene expression of USMG5 (probeID ILMN_1773313) in whole blood
10 105361816 2 SH3PXD2A T G exonic synonymous SNV SH3PXD2A:NM_014631:exon14:c.A3075C:p.I1025I
10 105362104 1 SH3PXD2A G A exonic synonymous SNV SH3PXD2A:NM_014631:exon14:c.C2787T:p.F929F RS11191741 LDL cholesterol:Fasting blood glucose:Height:Urinary albumin-to-creatinine ratio:Bipolar disorder:Major depressive disorder and bipolar disorder combined analysis
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 105763026 2 SLK C T exonic nonsynonymous SNV SLK:NM_001304743:exon9:c.C2090T:p.T697I,SLK:NM_014720:exon9:c.C2090T:p.T697I RS3740469 High-grade glioma:Gene expression of [probe 1740192 centered at chr10:105627561] in blood:Sporadic Creutzfeldt-Jakob disease:Parkinson's disease:College completion:Hypertension (early onset hypertension)
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 106039185 2 GSTO2 A G exonic nonsynonymous SNV GSTO2:NM_001191014:exon3:c.A340G:p.N114D,GSTO2:NM_183239:exon5:c.A424G:p.N142D RS156697 Lung function, mean forced vital capacity (FVC):Gene expression of AK097894 in liver:Gene expression of GSTO2 in liver:Triglycerides:Bipolar disorder:Gene expression of GSTO2 probe [GI_38016130-S] in brain cortex with no Alzheimer's interaction:HDL cholesterol change with statins:Gene expression of GSTO2 in Frontal cortex:Gene expression of GSTO2 in peripheral blood monocytes:HDL cholesterol:Gene expression of ITPRIP in blood:Gene expression of GSTO2 in blood:Gene expression of GSTO1 in blood:Sporadic Creutzfeldt-Jakob disease:Gene expression of GSTO2 in liver:Gene expression of GSTO2 (probeID ILMN_1740234) in temporal cortex in Alzheimer's disease cases: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 temporal cortex in Progressive Supranuclear Palsy cases: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 Alzheimer's disease cases:Gene expression of GSTO2 (probeID ILMN_1740234) in temporal cortex in Alzheimer's disease cases and controls
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 113920465 1 GPAM G A exonic synonymous SNV GPAM:NM_001244949:exon16:c.C1656T:p.N552N,GPAM:NM_020918:exon16:c.C1656T:p.N552N RS2277207 Total cholesterol change with statins:LDL cholesterol change with statins:Autism:Autism with verbal ability:HDL cholesterol:Total cholesterol:LDL cholesterol:Gene expression of GPAM in normal prepouch ileum
10 113926224 1 GPAM A G exonic nonsynonymous SNV GPAM:NM_001244949:exon12:c.T1157C:p.I386T,GPAM:NM_020918:exon12:c.T1157C:p.I386T
10 113935379 1 GPAM T C exonic nonsynonymous SNV GPAM:NM_001244949:exon6:c.A392G:p.E131G,GPAM:NM_020918:exon6:c.A392G:p.E131G RS10787428 Total cholesterol change with statins:LDL cholesterol change with statins:Autism:Autism with verbal ability:HDL cholesterol:Total cholesterol:LDL cholesterol:Refractive error:Gene expression of GPAM in normal prepouch ileum
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 114053546 2 TECTB C G exonic synonymous SNV TECTB:NM_058222:exon5:c.C534G:p.S178S RS726009 Bipolar disorder:Triglycerides
10 115489152 1 CASP7 C G exonic nonsynonymous SNV CASP7:NM_001267058:exon6:c.C690G:p.D230E,CASP7:NM_001227:exon7:c.C765G:p.D255E,CASP7:NM_001267056:exon7:c.C765G:p.D255E,CASP7:NM_001267057:exon7:c.C1020G:p.D340E,CASP7:NM_001320911:exon7:c.C789G:p.D263E,CASP7:NM_033338:exon8:c.C864G:p.D288E,CASP7:NM_033339:exon8:c.C765G:p.D255E,CASP7:NM_033340:exon8:c.C731G:p.T244S RS2227310 Gene expression of CASP7 in peripheral blood monocytes:Waist hip ratio:Comorbid depressive syndrome and alcohol dependence:Gene expression of CASP7 in normal prepouch ileum
10 115489167 1 CASP7 G A exonic nonsynonymous SNV CASP7:NM_033340:exon8:c.G746A:p.R249K RS2227309 Waist hip ratio:Comorbid depressive syndrome and alcohol dependence:Gene expression of CASP7 (ENSG00000165806) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of CASP7 in normal prepouch ileum
10 115609915 1 DCLRE1A C G exonic nonsynonymous SNV DCLRE1A:NM_014881:exon2:c.G949C:p.D317H,DCLRE1A:NM_001271816:exon3:c.G949C:p.D317H RS3750898 LDL cholesterol:Triglycerides
10 115664626 1 NHLRC2 A G exonic synonymous SNV NHLRC2:NM_198514:exon10:c.A1755G:p.V585V
10 116602805 1 FAM160B1 A G exonic synonymous SNV FAM160B1:NM_001135051:exon6:c.A636G:p.E212E,FAM160B1:NM_020940:exon6:c.A636G:p.E212E RS17092491 HDL cholesterol:HDL cholesterol:Aortic valve calcium
10 116719543 1 TRUB1 G A exonic nonsynonymous SNV TRUB1:NM_139169:exon4:c.G500A:p.R167K RS7099565 Irritible bowel syndrome:Tardive dyskinesia:Major depressive disorder:HDL cholesterol
10 119043554 1 PDZD8 C T exonic nonsynonymous SNV PDZD8:NM_173791:exon5:c.G2690A:p.R897Q RS363294 HOMA-B:Alcohol dependence:Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease:Gene expression of PDZD8 in normal prepouch ileum:Advanced age-related macular degeneration (geographic atrophy)
10 119133968 1 PDZD8 G C exonic synonymous SNV PDZD8:NM_173791:exon1:c.C771G:p.S257S RS3814230 HDL cholesterol change with statins:LDL cholesterol
10 119134058 1 PDZD8 T C exonic synonymous SNV PDZD8:NM_173791:exon1:c.A681G:p.G227G
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 120828969 1 EIF3A A G exonic synonymous SNV EIF3A:NM_003750:exon6:c.T939C:p.D313D RS7908387 Triglycerides:LDL cholesterol change with statins
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 121429633 1 BAG3 T C exonic nonsynonymous SNV BAG3:NM_004281:exon2:c.T451C:p.C151R RS2234962 Alzheimer's disease:HOMA-B:Total cholesterol:LDL cholesterol:Height:Sporadic dilated cardiomyopathy:Sporadic dilated cardiomyopathy (female):Sporadic dilated cardiomyopathy (male):Gene expression of INPP5F///RP11-198M6.3 in blood:Diastolic blood pressure (DBP):Paclitaxel-induced cytotoxicity in lymphoblastoid cell lines
10 121436362 1 BAG3 A G exonic synonymous SNV BAG3:NM_004281:exon4:c.A1296G:p.V432V RS196295 Triglycerides:Total cholesterol change with statins:Cystatin C in serum:Height:Urinary albumin-to-creatinine ratio:Adiponectin levels
10 121586827 1 INPP5F A G exonic synonymous SNV INPP5F:NM_001243194:exon6:c.A1104G:p.R368R,INPP5F:NM_014937:exon20:c.A2934G:p.R978R
10 121596498 1 MCMBP C T exonic synonymous SNV MCMBP:NM_001256378:exon13:c.G1452A:p.Q484Q,MCMBP:NM_001256379:exon13:c.G933A:p.Q311Q,MCMBP:NM_024834:exon13:c.G1458A:p.Q486Q
10 121679013 2 SEC23IP A G exonic nonsynonymous SNV SEC23IP:NM_007190:exon11:c.A1930G:p.K644E RS2475298 LDL cholesterol:TrailsA:TrailsB:Height:Gene expression of C10orf119 (probeID ILMN_1761411) in temporal cortex in Alzheimer's disease cases and controls:Parkinson's disease:Gene expression of C10orf119 (probeID ILMN_1761411) in cerebellum in Alzheimer's disease cases and controls
10 122624679 1 WDR11 G A exonic synonymous SNV WDR11:NM_018117:exon6:c.G834A:p.T278T RS10886789 Fasting insulin:Urinary albumin-to-creatinine ratio
10 122645376 1 WDR11 A T exonic synonymous SNV WDR11:NM_018117:exon15:c.A1899T:p.A633A RS7899928 Gene expression of BRWD2 [probe 229694_at] in lymphoblastoid cell lines:Triglycerides
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 123845322 2 TACC2 T C exonic nonsynonymous SNV TACC2:NM_001291876:exon4:c.T3307C:p.W1103R,TACC2:NM_001291877:exon4:c.T3307C:p.W1103R,TACC2:NM_206862:exon4:c.T3307C:p.W1103R
10 123903133 1 TACC2 G A exonic nonsynonymous SNV TACC2:NM_206862:exon7:c.G5746A:p.E1916K RS12765679 Waist hip ratio:Neuroblastoma (brain cancer):Advanced age-related macular degeneration
10 123996976 1 TACC2 G A exonic nonsynonymous SNV TACC2:NM_206860:exon10:c.G2338A:p.A780T,TACC2:NM_001291878:exon11:c.G2374A:p.A792T,TACC2:NM_001291879:exon11:c.G1075A:p.A359T,TACC2:NM_006997:exon11:c.G2428A:p.A810T,TACC2:NM_001291876:exon14:c.G7828A:p.A2610T,TACC2:NM_001291877:exon14:c.G7975A:p.A2659T,TACC2:NM_206861:exon14:c.G2632A:p.A878T,TACC2:NM_206862:exon17:c.G8194A:p.A2732T RS2295879 Alzheimer's disease
10 124089036 1 BTBD16 G A exonic nonsynonymous SNV BTBD16:NM_001318189:exon11:c.G956A:p.R319Q,BTBD16:NM_144587:exon11:c.G953A:p.R318Q RS2421013 HDL cholesterol:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of PLEKHA1 (ENSG00000107679) in dendritic cells treated with Mycobacterium tuberculosis:Adiponectin levels
10 124183732 1 PLEKHA1 T C exonic synonymous SNV PLEKHA1:NM_001001974:exon9:c.T699C:p.R233R,PLEKHA1:NM_021622:exon9:c.T699C:p.R233R,PLEKHA1:NM_001195608:exon10:c.T699C:p.R233R,PLEKHA1:NM_001330178:exon10:c.T699C:p.R233R RS4405249 LDL cholesterol:Total cholesterol:Serum creatinine:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
10 124189197 1 PLEKHA1 A G exonic nonsynonymous SNV PLEKHA1:NM_001001974:exon12:c.A958G:p.T320A,PLEKHA1:NM_021622:exon12:c.A958G:p.T320A RS1045216 Triglycerides:Serum creatinine:Rheumatoid arthritis:Autism without verbal ability:Height:Age-related macular degeneration:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration (geographic atrophy):Refractive error
10 124610027 2 FAM24B G A exonic nonsynonymous SNV FAM24B:NM_001204364:exon3:c.C5T:p.P2L,FAM24B:NM_152644:exon3:c.C5T:p.P2L RS1891110 Gene expression of C10orf88 in CHB-JPT lymphoblastoid cell lines:Gene expression of C10orf88 [probe 219240_s_at] in lymphoblastoid cell lines:Schizophrenia:Ischemic stroke:Major depressive disorder (broad definition) (males):Rheumatoid arthritis:Gene expression of PSTK in peripheral blood monocytes:LDL cholesterol:Total cholesterol:HDL cholesterol:Gene expression of FAM24B [transcript NM_152644, probe A_23_P52531] in liver:Gene expression of RP11-564D11.6 in blood:Years of education:Aortic valve calcium:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration:College completion
10 124742895 2 PSTK G C exonic nonsynonymous SNV PSTK:NM_153336:exon3:c.G616C:p.G206R RS3736582 HDL cholesterol:Chronic kidney disease:Total cholesterol:HDL cholesterol:LDL cholesterol:Diastolic blood pressure (DBP):Obesity with early age of onset (age >2):Aortic valve calcium:College completion:Infant head circumference:Years of education
10 124806770 2 ACADSB A G exonic nonsynonymous SNV ACADSB:NM_001330174:exon7:c.A640G:p.I214V,ACADSB:NM_001609:exon8:c.A946G:p.I316V
10 126089434 1 OAT G A exonic synonymous SNV OAT:NM_001322971:exon7:c.C813T:p.N271N,OAT:NM_001171814:exon8:c.C720T:p.N240N,OAT:NM_000274:exon9:c.C1134T:p.N378N,OAT:NM_001322965:exon9:c.C1134T:p.N378N,OAT:NM_001322974:exon9:c.C534T:p.N178N,OAT:NM_001322966:exon10:c.C1134T:p.N378N,OAT:NM_001322967:exon10:c.C1134T:p.N378N,OAT:NM_001322969:exon10:c.C1134T:p.N378N,OAT:NM_001322968:exon11:c.C1134T:p.N378N,OAT:NM_001322970:exon11:c.C1134T:p.N378N RS11461 Gene expression of OAT (ENSG00000065154) in dendritic cells treated with Mycobacterium tuberculosis
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 127530325 2 DHX32 T C exonic synonymous SNV DHX32:NM_018180:exon7:c.A1530G:p.A510A RS3208565 LDL cholesterol:Triglycerides:Gene expression of UROS in Frontal cortex:Infant head circumference
10 128798495 1 DOCK1 C T exonic synonymous SNV DOCK1:NM_001290223:exon10:c.C909T:p.R303R,DOCK1:NM_001380:exon10:c.C909T:p.R303R
10 129216658 1 DOCK1 T C exonic synonymous SNV DOCK1:NM_001290223:exon45:c.T4545C:p.I1515I,DOCK1:NM_001380:exon45:c.T4482C:p.I1494I RS2229600 Microalbuminuria
10 129242515 2 DOCK1 G A exonic synonymous SNV DOCK1:NM_001290223:exon50:c.G5385A:p.R1795R,DOCK1:NM_001380:exon50:c.G5322A:p.R1774R RS11371 Serum creatinine:Total cholesterol:LDL cholesterol:Microalbuminuria
10 129249662 2 DOCK1 G A exonic nonsynonymous SNV DOCK1:NM_001290223:exon52:c.G5632A:p.A1878T,DOCK1:NM_001380:exon52:c.G5569A:p.A1857T RS2229603 HDL cholesterol change with statins:Years of education:College completion
10 129249676 1 DOCK1 C T exonic synonymous SNV DOCK1:NM_001290223:exon52:c.C5646T:p.S1882S,DOCK1:NM_001380:exon52:c.C5583T:p.S1861S
10 129899578 1 MKI67 T C exonic nonsynonymous SNV MKI67:NM_001145966:exon13:c.A8569G:p.K2857E,MKI67:NM_002417:exon14:c.A9649G:p.K3217E RS8473 LDL cholesterol:Tardive dyskinesia:Gene expression of P2RY6 in peripheral blood monocytes:Waist hip ratio:Ethanolamine:tau-Methylhistidine
10 129899629 1 MKI67 G A exonic synonymous SNV MKI67:NM_001145966:exon13:c.C8518T:p.L2840L,MKI67:NM_002417:exon14:c.C9598T:p.L3200L
10 129902281 1 MKI67 G A exonic nonsynonymous SNV MKI67:NM_001145966:exon12:c.C6743T:p.P2248L,MKI67:NM_002417:exon13:c.C7823T:p.P2608L RS1063535 LDL cholesterol
10 129903016 1 MKI67 T C exonic nonsynonymous SNV MKI67:NM_001145966:exon12:c.A6008G:p.N2003S,MKI67:NM_002417:exon13:c.A7088G:p.N2363S
10 129903802 1 MKI67 A G exonic nonsynonymous SNV MKI67:NM_001145966:exon12:c.T5222C:p.I1741T,MKI67:NM_002417:exon13:c.T6302C:p.I2101T RS11016073 Eye color:Premature ovarian failure:Tardive dyskinesia:Gene expression of PTPRE in blood:Bipolar disorder
10 129904560 1 MKI67 C T exonic synonymous SNV MKI67:NM_001145966:exon12:c.G4464A:p.T1488T,MKI67:NM_002417:exon13:c.G5544A:p.T1848T
10 129906427 1 MKI67 C A exonic nonsynonymous SNV MKI67:NM_001145966:exon12:c.G2597T:p.G866V,MKI67:NM_002417:exon13:c.G3677T:p.G1226V
10 129906674 1 MKI67 T C exonic nonsynonymous SNV MKI67:NM_001145966:exon12:c.A2350G:p.K784E,MKI67:NM_002417:exon13:c.A3430G:p.K1144E
10 129907489 1 MKI67 G A exonic nonsynonymous SNV MKI67:NM_001145966:exon12:c.C1535T:p.A512V,MKI67:NM_002417:exon13:c.C2615T:p.A872V RS2853344 Barnes Akathisia Rating Scale:Gene expression of PTPRE in blood:Bipolar disorder:Salmonella-induced pyroptosis
10 129913960 1 MKI67 A T exonic nonsynonymous SNV MKI67:NM_002417:exon7:c.T712A:p.W238R RS7095325 LDL cholesterol
10 131934747 1 GLRX3 G C exonic nonsynonymous SNV GLRX3:NM_001199868:exon1:c.G63C:p.Q21H,GLRX3:NM_006541:exon1:c.G63C:p.Q21H RS13991 PROP taste detection threshold:Proteomic variation in lymphoblastoid cell lines (Protein: GLRX3, Spot: 1505):Proteomic variation in lymphoblastoid cell lines (Protein: GLRX3, Spot: 1509)
10 131959150 1 GLRX3 C T exonic nonsynonymous SNV GLRX3:NM_001199868:exon4:c.C367T:p.P123S,GLRX3:NM_006541:exon4:c.C367T:p.P123S RS2274217 PROP taste detection threshold:Gene expression of GLRX3 in normal prepouch ileum
10 132826404 2
10 134161517 1 LRRC27 C T exonic nonsynonymous SNV LRRC27:NM_001309474:exon5:c.C202T:p.R68C,LRRC27:NM_001143757:exon6:c.C583T:p.R195C,LRRC27:NM_001143758:exon6:c.C583T:p.R195C,LRRC27:NM_001143759:exon6:c.C583T:p.R195C,LRRC27:NM_030626:exon6:c.C583T:p.R195C RS2474329 Rheumatoid arthritis:LDL cholesterol:Urinary albumin-to-creatinine ratio:Gene expression of STK32C in blood:Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
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 134165215 1 LRRC27 G A exonic nonsynonymous SNV LRRC27:NM_001309474:exon6:c.G650A:p.R217Q,LRRC27:NM_001143757:exon7:c.G1031A:p.R344Q,LRRC27:NM_001143758:exon7:c.G1031A:p.R344Q,LRRC27:NM_030626:exon7:c.G1031A:p.R344Q,LRRC27:NM_001143759:exon8:c.G1126A:p.E376K
10 134459388 1 INPP5A A G exonic nonsynonymous SNV INPP5A:NM_005539:exon3:c.A134G:p.K45R RS1133400 Partial epilepsy:Birth weight
10 134523914 1 INPP5A G A exonic nonsynonymous SNV INPP5A:NM_001321042:exon5:c.G409A:p.V137M,INPP5A:NM_005539:exon8:c.G601A:p.V201M
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 135204950 2 PAOX C G exonic nonsynonymous SNV PAOX:NM_207128:exon6:c.C1369G:p.Q457E RS1046175 Gene expression of PAOX (ENSG00000148832) in dendritic cells treated with Mycobacterium tuberculosis
10 135205009 2 PAOX C G exonic synonymous SNV PAOX:NM_207128:exon6:c.C1428G:p.P476P RS1046178 Triglycerides:HDL cholesterol:Serum creatinine
10 135233541 2 MTG1 A G exonic nonsynonymous SNV MTG1:NM_138384:exon11:c.A877G:p.I293V
11 237087 2 PSMD13 A G exonic nonsynonymous SNV PSMD13:NM_002817:exon1:c.A38G:p.N13S,PSMD13:NM_175932:exon1:c.A38G:p.N13S RS1045288 Irritible bowel syndrome:Gene expression of PSMD13 [probe 3315549] in peripheral blood mononuclear cells:Differential exon level expression of PSMD13 [probe 3315556] in peripheral blood mononuclear cells:Differential exon level expression of PSMD13 [probe 3315577] in peripheral blood mononuclear cells:Differential exon level expression of PSMD13 [probe 3315555] in peripheral blood mononuclear cells:Differential exon level expression of PSMD13 [probe 3315559] in peripheral blood mononuclear cells:Differential exon level expression of PSMD13 [probe 3315564] in peripheral blood mononuclear cells:Differential exon level expression of PSMD13 [probe 3315552] in peripheral blood mononuclear cells:Differential exon level expression of RIC8A [probe 3315519] in peripheral blood mononuclear cells:Differential exon level expression of RIC8A [probe 3315520] in peripheral blood mononuclear cells:Gene expression of RIC8A [probe 3315512] in peripheral blood mononuclear cells:Differential exon level expression of PSMD13 [probe 3315562] in peripheral blood mononuclear cells:Differential exon level expression of PSMD13 [probe 3315552] in brain cortex:Gene expression of PSMD13 [probe 3315549] in brain cortex:Differential exon level expression of PSMD13 [probe 3315562] in brain cortex:Differential exon level expression of PSMD13 [probe 3315572] in peripheral blood mononuclear cells:Differential exon level expression of PSMD13 [probe 3315551] in peripheral blood mononuclear cells:Differential exon level expression of RIC8A [probe 3315532] in peripheral blood mononuclear cells:Differential exon level expression of RIC8A [probe 3315525] in peripheral blood mononuclear cells:Differential exon level expression of PSMD13 [probe 3315576] in peripheral blood mononuclear cells:Differential exon level expression of RIC8A [probe 3315535] in peripheral blood mononuclear cells:Differential exon level expression of RIC8A [probe 3315523] in peripheral blood mononuclear cells:Differential exon level expression of RIC8A [probe 3315531] in peripheral blood mononuclear cells:Differential exon level expression of PSMD13 [probe 3315555] in brain cortex:Differential exon level expression of PSMD13 [probe 3315556] in brain cortex:Differential exon level expression of RIC8A [probe 3315522] in peripheral blood mononuclear cells:Differential exon level expression of RIC8A [probe 3315533] in peripheral blood mononuclear cells:Partial epilepsy:Height:Gene expression of RIC8A///SIRT3 in blood:Gene expression of PSMD13 in blood:Gene expression of ENST00000332865///BET1L in blood:Gene expression of ATHL1 in blood:Gene expression of BET1L in normal prepouch ileum:Hypertension (early onset hypertension):Gene expression of RIC8A in normal prepouch ileum:Gene expression of PSMD13 in normal prepouch ileum
11 290816 2 PGGHG A G exonic synonymous SNV PGGHG:NM_025092:exon4:c.A609G:p.A203A RS10902120 LDL cholesterol change with statins:Rheumatoid arthritis:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Infant head circumference
11 293188 2 PGGHG T C exonic synonymous SNV PGGHG:NM_025092:exon8:c.T1296C:p.H432H RS12801980 Gene expression of FLJ22635 in JPT lymphoblastoid cell lines:Birth weight
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 309127 2 IFITM2 A G exonic nonsynonymous SNV IFITM2:NM_006435:exon2:c.A361G:p.I121V
11 314207 2 IFITM1 C G exonic nonsynonymous SNV IFITM1:NM_003641:exon1:c.C37G:p.P13A
11 320649 1 IFITM3 G A exonic synonymous SNV IFITM3:NM_021034:exon1:c.C165T:p.P55P
11 379598 2 B4GALNT4 A G exonic synonymous SNV B4GALNT4:NM_178537:exon15:c.A2385G:p.E795E
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 428489 2 ANO9 T C exonic nonsynonymous SNV ANO9:NM_001347882:exon12:c.A739G:p.I247V,ANO9:NM_001012302:exon13:c.A1171G:p.I391V RS10794324 Hip bone mineral density (BMD):Spine bone mineral density (BMD):Differential exon level expression of RNH1 [probe 3358051] in brain cortex:AraC toxicity as measured by AraC IC50 in lymphoblastoid cell lines:Serum creatinine:LDL cholesterol:Gene expression of IFITM3 in blood:Gene expression of SIGIRR in blood:Gene expression of ANO9 in blood
11 433387 2 ANO9 A G exonic nonsynonymous SNV ANO9:NM_001012302:exon4:c.T277C:p.F93L
11 551753 2 LRRC56 G A exonic nonsynonymous SNV LRRC56:NM_198075:exon10:c.G899A:p.R300H
11 554214 2 LRRC56 G C exonic nonsynonymous SNV LRRC56:NM_198075:exon14:c.G1567C:p.D523H RS10902171 Gene expression of DRD4 [transcript NM_000797, probe A_23_P150162] in liver:Birth weight
11 556521 2 LMNTD2 C G exonic synonymous SNV LMNTD2:NM_173573:exon9:c.G1044C:p.P348P
11 556857 2 LMNTD2 G C exonic synonymous SNV LMNTD2:NM_173573:exon8:c.C954G:p.G318G
11 557989 2 LMNTD2 C T exonic synonymous SNV LMNTD2:NM_173573:exon5:c.G450A:p.Q150Q
11 654043 2 DEAF1 G A exonic synonymous SNV DEAF1:NM_001293634:exon10:c.C1287T:p.C429C,DEAF1:NM_021008:exon11:c.C1512T:p.C504C RS10902188 Total cholesterol:Body mass index (BMI)
11 720197 2 EPS8L2 C T exonic synonymous SNV EPS8L2:NM_022772:exon5:c.C301T:p.L101L RS3087546 Comorbid depressive syndrome and alcohol dependence:PROP taste detection threshold:Gene expression change of TALDO1 (ENSG00000177156) in dendritic cells after treatment with Mycobacterium tuberculosis
11 721570 2 EPS8L2 C T exonic synonymous SNV EPS8L2:NM_022772:exon10:c.C774T:p.I258I RS7635 Gene expression of NS3BP in normal prepouch ileum
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 772490 2 GATD1 G A exonic synonymous SNV GATD1:NM_001318822:exon3:c.C129T:p.A43A,GATD1:NM_001318818:exon4:c.C237T:p.A79A,GATD1:NM_001318820:exon4:c.C279T:p.A93A,GATD1:NM_001318823:exon4:c.C237T:p.A79A,GATD1:NM_001318824:exon4:c.C279T:p.A93A,GATD1:NM_001318821:exon5:c.C387T:p.A129A,GATD1:NM_182612:exon5:c.C387T:p.A129A RS12224894 Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of NS3BP in normal prepouch ileum
11 802379 2 PIDD1 T C exonic nonsynonymous SNV PIDD1:NM_145886:exon6:c.A992G:p.Q331R,PIDD1:NM_145887:exon6:c.A992G:p.Q331R RS10902221 Gene expression of NS3BP [probe 1553943_at] in lymphoblastoid cell lines:Schizophrenia:Gene expression of NS3BP [probe 3316234] in brain cortex:Fasting blood glucose:Methylation levels at chr11:795726-795776 [hg18 coord, probe cg20225915] in Temporal cortex:Methylation levels at chr11:795726-795776 [hg18 coord, probe cg20225915] in Caudal pons:Variant Creutzfeldt-Jakob disease:Gene expression of TALDO1 (ENSG00000177156) in dendritic cells:Parkinson's disease
11 804212 2 PIDD1 C A exonic synonymous SNV PIDD1:NM_145886:exon2:c.G177T:p.L59L,PIDD1:NM_145887:exon2:c.G177T:p.L59L
11 824789 2 PNPLA2 T C exonic nonsynonymous SNV PNPLA2:NM_020376:exon10:c.T1442C:p.L481P
11 828916 2 CRACR2B G A exonic nonsynonymous SNV CRACR2B:NM_001286606:exon2:c.G230A:p.R77Q,CRACR2B:NM_173584:exon2:c.G230A:p.R77Q RS7126805 Gene expression of CD151 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of CD151 [probe 204306_s_at] in lymphoblastoid cell lines:Gene expression of POLR2L in liver:Schizophrenia:Gene expression of CD151 [probe 3316344] in peripheral blood mononuclear cells:Differential exon level expression of CD151 [probe 3316371] in peripheral blood mononuclear cells:Differential exon level expression of CD151 [probe 3316368] in peripheral blood mononuclear cells:Gene expression of CD151 in T cells:Gene expression of CD151 in Fibroblasts:Gene expression of CD151 in Lymphoblastoid cell lines:HOMA-B:Fasting insulin:HOMA-IR: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:Gene expression of CD151 in CD4+ lymphocytes:Asthma:Waist hip ratio:Body mass index (BMI):Gene expression of CD151 [probe ILMN_138040] in osteoblasts treated with PGE2:Gene expression of MGC45840 [probe ILMN_13031] in osteoblasts treated with BMP2:Gene expression of CD151///POLR2L in blood:Gene expression of TSPAN4///AP006623.1 in blood:Gene expression of CD151 in blood:Gene expression of POLR2L in blood:Gene expression of EFCAB4A///CD151 in blood:Gene expression of ENST00000369394///FAM72B in blood:Gene expression of CD151 (probeID ILMN_1794740) in cerebellum in non-Alzheimer's disease samples:Gene expression of CD151 (probeID ILMN_1661589) in cerebellum in non-Alzheimer's disease samples: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 temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of CD151 (probeID ILMN_2326713) in cerebellum in Alzheimer's disease cases:Gene expression of CD151 (probeID ILMN_1794740) in temporal cortex in Alzheimer's disease cases:Gene expression of SLC25A22 (ENSG00000177542) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of CD151 (probeID ILMN_1661589) in cerebellum in Alzheimer's disease cases:Gene expression of CD151 (probeID ILMN_1794740) in cerebellum in Alzheimer's disease cases:Gene expression of CD151 (probeID ILMN_2326713) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CD151 (probeID ILMN_1661589) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CD151 (probeID ILMN_1661589) in temporal cortex in Alzheimer's disease cases:Gene expression of CD151 (probeID ILMN_1794740) in cerebellum in Alzheimer's disease cases and controls:Gene expression of CD151 in normal prepouch ileum:Gene expression of CD151 (probeID ILMN_1794740) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of CD151 (probeID ILMN_2326713) in temporal cortex in Alzheimer's disease cases:Gene expression of CD151 (probeID ILMN_1661589) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression change of CD151 (ENSG00000177697) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of CD151 (probeID ILMN_1661589) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of CD151 (probeID ILMN_2326713) in cerebellum in non-Alzheimer's disease samples:Gene expression of CD151 (probeID ILMN_2326713) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of CD151 (probeID ILMN_2326713) in cerebellum in Alzheimer's disease cases and controls:Gene expression of CD151 (probeID ILMN_1661589) in cerebellum in Alzheimer's disease cases and controls
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 985547 2 AP2A2 C T exonic synonymous SNV AP2A2:NM_001242837:exon8:c.C930T:p.L310L,AP2A2:NM_012305:exon8:c.C927T:p.L309L RS10794358 Chronic kidney disease:Serum creatinine:Gene expression of POLR2L in normal prepouch ileum:Refractive error:Obesity with early age of onset (age >2)
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 1857173 2 SYT8 T C exonic nonsynonymous SNV SYT8:NM_001290332:exon4:c.T361C:p.C121R,SYT8:NM_001290333:exon4:c.T358C:p.C120R,SYT8:NM_001290334:exon4:c.T355C:p.C119R,SYT8:NM_138567:exon4:c.T358C:p.C120R
11 1902768 2 LSP1 G A exonic nonsynonymous SNV LSP1:NM_001013253:exon3:c.G112A:p.A38T,LSP1:NM_001013254:exon3:c.G112A:p.A38T,LSP1:NM_001013255:exon3:c.G112A:p.A38T,LSP1:NM_001289005:exon3:c.G112A:p.A38T,LSP1:NM_002339:exon3:c.G298A:p.A100T,LSP1:NM_001242932:exon4:c.G682A:p.A228T RS621679 Mean arterial pressure
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 3661140 2 ART5 T C exonic synonymous SNV ART5:NM_001297668:exon2:c.A519G:p.G173G,ART5:NM_053017:exon2:c.A519G:p.G173G,ART5:NM_001079536:exon3:c.A519G:p.G173G
11 3723781 2 NUP98 G C exonic nonsynonymous SNV NUP98:NM_016320:exon23:c.C3424G:p.Q1142E,NUP98:NM_139132:exon23:c.C3424G:p.Q1142E
11 4103524 2 STIM1 A G exonic synonymous SNV STIM1:NM_001277961:exon8:c.A1080G:p.Q360Q,STIM1:NM_001277962:exon8:c.A1080G:p.Q360Q,STIM1:NM_003156:exon8:c.A1080G:p.Q360Q RS2304891 Total cholesterol:LDL cholesterol:Gene expression of hsa-miR-483-5p in YRI lymphoblastoid cell lines:Gene expression of RRM1 in blood
11 4141132 2 RRM1 C A exonic synonymous SNV RRM1:NM_001330193:exon3:c.C184A:p.R62R,RRM1:NM_001318064:exon8:c.C559A:p.R187R,RRM1:NM_001033:exon9:c.C850A:p.R284R RS183484 Serum creatinine
11 4159457 2 RRM1 A G exonic synonymous SNV RRM1:NM_001318065:exon13:c.A1209G:p.T403T,RRM1:NM_001330193:exon13:c.A1557G:p.T519T,RRM1:NM_001318064:exon18:c.A1932G:p.T644T,RRM1:NM_001033:exon19:c.A2223G:p.T741T
11 4159466 2 RRM1 G A exonic synonymous SNV RRM1:NM_001318065:exon13:c.G1218A:p.A406A,RRM1:NM_001330193:exon13:c.G1566A:p.A522A,RRM1:NM_001318064:exon18:c.G1941A:p.A647A,RRM1:NM_001033:exon19:c.G2232A:p.A744A
11 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 5719667 2 TRIM22 T C exonic synonymous SNV TRIM22:NM_001199573:exon4:c.T630C:p.D210D,TRIM22:NM_006074:exon4:c.T642C:p.D214D RS2291842 Neuroticism:Triglycerides:Body mass index (BMI):Birth weight
11 6239139 2 FAM160A2 A G exonic synonymous SNV FAM160A2:NM_001098794:exon9:c.T1677C:p.R559R,FAM160A2:NM_032127:exon9:c.T1719C:p.R573R
11 6243804 2 FAM160A2 A G exonic synonymous SNV FAM160A2:NM_001098794:exon6:c.T1059C:p.Y353Y,FAM160A2:NM_032127:exon6:c.T1059C:p.Y353Y RS3750945 Irritible bowel syndrome:Schizophrenia:HOMA-B:Fasting insulin:Cystatin C in serum:Gene expression of C11orf42///AC022762.2 in blood:Gene expression of PRKCDBP in blood:Sporadic Creutzfeldt-Jakob disease
11 6520015 2 DNHD1 G T exonic synonymous SNV DNHD1:NM_173589:exon2:c.G570T:p.L190L,DNHD1:NM_144666:exon3:c.G570T:p.L190L RS11040899 Major depressive disorder (narrow definition) (females):Major depressive disorder (narrow definition)
11 6567591 2 DNHD1 C T exonic nonsynonymous SNV DNHD1:NM_144666:exon21:c.C5422T:p.R1808C
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 6629665 2 ILK C T exonic synonymous SNV ILK:NM_001014795:exon3:c.C297T:p.H99H,ILK:NM_001014794:exon4:c.C297T:p.H99H,ILK:NM_001278441:exon4:c.C297T:p.H99H,ILK:NM_004517:exon4:c.C297T:p.H99H
11 6630833 2 ILK G A exonic synonymous SNV ILK:NM_001278441:exon7:c.G636A:p.P212P,ILK:NM_001014795:exon8:c.G819A:p.P273P,ILK:NM_001278442:exon8:c.G417A:p.P139P,ILK:NM_001014794:exon9:c.G819A:p.P273P,ILK:NM_004517:exon9:c.G819A:p.P273P
11 6636106 2 TPP1 T A exonic synonymous SNV TPP1:NM_000391:exon12:c.A1542T:p.G514G
11 7662732 2 PPFIBP2 C T exonic synonymous SNV PPFIBP2:NM_001256569:exon12:c.C969T:p.D323D,PPFIBP2:NM_001256568:exon13:c.C1062T:p.D354D,PPFIBP2:NM_003621:exon16:c.C1398T:p.D466D RS4643071 Risperidone response in schizophrenia treatment
11 7670440 2 PPFIBP2 A G exonic nonsynonymous SNV PPFIBP2:NM_001256569:exon16:c.A1543G:p.R515G,PPFIBP2:NM_001256568:exon17:c.A1636G:p.R546G,PPFIBP2:NM_003621:exon20:c.A1972G:p.R658G
11 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 8014479 2 EIF3F C T exonic synonymous SNV EIF3F:NM_003754:exon4:c.C561T:p.H187H
11 8486310 2 STK33 C A exonic synonymous SNV STK33:NM_001289061:exon4:c.G399T:p.A133A,STK33:NM_001289058:exon5:c.G276T:p.A92A,STK33:NM_030906:exon5:c.G399T:p.A133A RS1446464 Triglycerides:2 hour glucose:Body mass index (BMI):PROP taste detection threshold:Bipolar disorder:Infant head circumference:Adiponectin levels:Gene expression of STK33 in normal prepouch ileum:Obesity with early age of onset (age >2)
11 8751889 2 ST5 C G exonic nonsynonymous SNV ST5:NM_213618:exon3:c.G948C:p.K316N,ST5:NM_005418:exon6:c.G948C:p.K316N RS3794153 Total cholesterol:Total cholesterol change with statins:LDL cholesterol change with statins:Serum creatinine:Disordered gambling:Years of education
11 8933064 2 AKIP1 G A exonic nonsynonymous SNV AKIP1:NM_001206646:exon2:c.G68A:p.R23K,AKIP1:NM_001206647:exon2:c.G68A:p.R23K,AKIP1:NM_001206648:exon2:c.G68A:p.R23K,AKIP1:NM_020642:exon2:c.G68A:p.R23K RS1133833 LDL cholesterol:Total cholesterol:Serum creatinine:Methylation levels at chr11:8890506-8890556 [hg18 coord, probe cg00186954] in Frontal cortex:Gene expression of NRIP3 (ENSG00000175352) in dendritic cells
11 9406349 2 IPO7 T C exonic synonymous SNV IPO7:NM_006391:exon1:c.T39C:p.T13T
11 9595732 2 WEE1 C G exonic synonymous SNV WEE1:NM_003390:exon1:c.C252G:p.G84G
11 9749645 2 SWAP70 A C exonic synonymous SNV SWAP70:NM_001297714:exon4:c.A514C:p.R172R,SWAP70:NM_015055:exon5:c.A688C:p.R230R RS397686 Fasting insulin:HOMA-IR:HOMA-B:Total cholesterol change with statins:LDL cholesterol change with statins:HDL cholesterol:Body mass index (BMI):PROP taste detection threshold:Transmission distortion
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 10875055 2 ZBED5 T C exonic nonsynonymous SNV ZBED5:NM_001143667:exon3:c.A1438G:p.I480V,ZBED5:NM_021211:exon3:c.A1438G:p.I480V RS1046297 Comorbid depressive syndrome and alcohol dependence
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 11976628 2 USP47 G A exonic synonymous SNV USP47:NM_017944:exon26:c.G3606A:p.Q1202Q,USP47:NM_001282659:exon27:c.G3810A:p.Q1270Q,USP47:NM_001330208:exon28:c.G3870A:p.Q1290Q RS7933089 Waist hip ratio:Transmission distortion
11 14810762 2 PDE3B A G exonic synonymous SNV PDE3B:NM_000922:exon4:c.A1389G:p.R463R RS4757268 2 hour glucose:HOMA-IR:Height:Alanine:Pyroglutamate:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Adiponectin levels
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 17191019 2 PIK3C2A A G exonic synonymous SNV PIK3C2A:NM_002645:exon2:c.T270C:p.I90I,PIK3C2A:NM_001321378:exon3:c.T270C:p.I90I RS214936 Gene expression of NUCB2 [probe 203675_at] in lymphoblastoid cell lines:Height:Advanced age-related macular degeneration:Breast cancer:Gene expression of SNORD14A (ENSG00000201784) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of SNORD14A (ENSG00000201784) in dendritic cells
11 17390443 2 NCR3LG1 C A exonic nonsynonymous SNV NCR3LG1:NM_001202439:exon4:c.C790A:p.H264N
11 17809639 2 SERGEF C T exonic nonsynonymous SNV SERGEF:NM_012139:exon11:c.G1370A:p.G457E RS10788 Hip bone mineral density (BMD):Spine bone mineral density (BMD):LDL cholesterol:Hip bone mineral density (BMD):Spine bone mineral density (BMD):HOMA-B:Total cholesterol
11 17809724 2 SERGEF T C exonic nonsynonymous SNV SERGEF:NM_012139:exon11:c.A1285G:p.K429E RS1528 Spine bone mineral density (BMD):Hip bone mineral density (BMD):LDL cholesterol:Hip bone mineral density (BMD):Spine bone mineral density (BMD):HOMA-B:Total cholesterol
11 17981047 2 SERGEF C T exonic synonymous SNV SERGEF:NM_012139:exon9:c.G981A:p.S327S RS211146 Gene expression of SERGEF [probe 220482_s_at] in lymphoblastoid cell lines:Schizophrenia:LDL cholesterol:Triglycerides:Microalbuminuria:Gene expression of SERGEF [transcript NM_012139, probe A_23_P139207] in liver:Gene expression of SAAL1 in blood:Gene expression of SERGEF in blood:Bipolar disorder:Mitral annular calcium:Obesity with early age of onset (age >2):Hypertension (early onset hypertension)
11 18253176 2 SAA2-SAA4;SAA4 C T exonic nonsynonymous SNV SAA4:NM_006512:exon4:c.G266A:p.C89Y,SAA2-SAA4:NM_001199744:exon6:c.G500A:p.C167Y RS2460827 2 hour glucose:HDL cholesterol:Total cholesterol change with statins:Total cholesterol:Total cholesterol:Breast cancer:Years of education
11 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 18636504 2 SPTY2D1 T C exonic synonymous SNV SPTY2D1:NM_194285:exon3:c.A1317G:p.A439A
11 20065673 2 NAV2 G T exonic nonsynonymous SNV NAV2:NM_001111019:exon4:c.G312T:p.E104D,NAV2:NM_001111018:exon13:c.G2862T:p.E954D,NAV2:NM_145117:exon13:c.G3054T:p.E1018D,NAV2:NM_182964:exon13:c.G3054T:p.E1018D,NAV2:NM_001244963:exon14:c.G3123T:p.E1041D RS3802799 Advanced age-related macular degeneration (geographic atrophy)
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 20104669 2 NAV2 G A exonic synonymous SNV NAV2:NM_001111019:exon16:c.G2634A:p.P878P,NAV2:NM_001111018:exon26:c.G5250A:p.P1750P,NAV2:NM_145117:exon26:c.G5442A:p.P1814P,NAV2:NM_182964:exon26:c.G5451A:p.P1817P,NAV2:NM_001244963:exon28:c.G5619A:p.P1873P RS2028570 Arthritis including non-Rheumatoid:Differential exon level expression of NAV2 [probe 3323215] in brain cortex:Abnormal Involuntary Movement Scale:Fasting insulin:Total cholesterol:Partial epilepsy:LDL cholesterol:Hypertension (early onset hypertension)
11 20112492 2 NAV2 G A exonic synonymous SNV NAV2:NM_001111019:exon17:c.G2772A:p.T924T,NAV2:NM_001111018:exon27:c.G5388A:p.T1796T,NAV2:NM_145117:exon27:c.G5580A:p.T1860T,NAV2:NM_182964:exon27:c.G5589A:p.T1863T,NAV2:NM_001244963:exon29:c.G5757A:p.T1919T RS1837971 Hypertension (early onset hypertension)
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 22646532 2 FANCF C T exonic synonymous SNV FANCF:NM_022725:exon1:c.G825A:p.L275L
11 27362359 2 CCDC34 T G exonic nonsynonymous SNV CCDC34:NM_030771:exon5:c.A791C:p.E264A RS17244028 Total cholesterol:Serum creatinine
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 32975641 2 QSER1 G A exonic synonymous SNV QSER1:NM_001076786:exon5:c.G4029A:p.E1343E
11 33054856 2 DEPDC7 C T exonic nonsynonymous SNV DEPDC7:NM_001077242:exon9:c.C1391T:p.T464I,DEPDC7:NM_139160:exon9:c.C1364T:p.T455I
11 33083263 2 TCP11L1 G A exonic synonymous SNV TCP11L1:NM_001145541:exon7:c.G963A:p.P321P,TCP11L1:NM_018393:exon7:c.G963A:p.P321P
11 33094215 2 TCP11L1 G A exonic nonsynonymous SNV TCP11L1:NM_001145541:exon10:c.G1523A:p.R508Q,TCP11L1:NM_018393:exon10:c.G1523A:p.R508Q
11 33308469 2 HIPK3 G A exonic nonsynonymous SNV HIPK3:NM_001048200:exon2:c.G509A:p.G170E,HIPK3:NM_001278162:exon2:c.G509A:p.G170E,HIPK3:NM_001278163:exon2:c.G509A:p.G170E,HIPK3:NM_005734:exon2:c.G509A:p.G170E
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 34938269 2 PDHX C T exonic nonsynonymous SNV PDHX:NM_001166158:exon1:c.C67T:p.R23C,PDHX:NM_003477:exon1:c.C67T:p.R23C RS1049306 Gene expression of APIP in normal prepouch ileum:Gene expression of APIP (ENSG00000149089) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of APIP (ENSG00000149089) in dendritic cells
11 34938310 2 PDHX T C exonic synonymous SNV PDHX:NM_001166158:exon1:c.T108C:p.S36S,PDHX:NM_003477:exon1:c.T108C:p.S36S RS1049307 Gene expression of APIP in normal prepouch ileum
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 43911365 2 ALKBH3 T C exonic synonymous SNV ALKBH3:NM_139178:exon6:c.T357C:p.T119T RS2434478 Breast cancer
11 43940602 2 ALKBH3 C G exonic nonsynonymous SNV ALKBH3:NM_139178:exon9:c.C684G:p.D228E
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 46702920 2 ARHGAP1 T C exonic synonymous SNV ARHGAP1:NM_004308:exon6:c.A459G:p.K153K
11 46893108 2 LRP4 T C exonic nonsynonymous SNV LRP4:NM_002334:exon31:c.A4660G:p.S1554G RS2306029 Hip bone mineral density (BMD):LDL cholesterol:Schizophrenia:Triglycerides:HDL cholesterol:LDL cholesterol:Total cholesterol:Urinary albumin-to-creatinine ratio:Suicide attempts in bipolar disorder (substance abuse/dependence):Common variable immunodeficiency:Plasma fibrin D-dimer levels:Systolic blood pressure (SBP):Age at death with kuru exposure:Prothrombin antigen
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 47202120 2 PACSIN3 G A exonic synonymous SNV PACSIN3:NM_001184974:exon5:c.C333T:p.R111R,PACSIN3:NM_001184975:exon5:c.C333T:p.R111R,PACSIN3:NM_016223:exon5:c.C333T:p.R111R
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 47469439 2 RAPSN A G exonic synonymous SNV RAPSN:NM_005055:exon2:c.T456C:p.Y152Y,RAPSN:NM_032645:exon2:c.T456C:p.Y152Y RS7111873 HDL cholesterol:Fasting blood glucose:Total cholesterol:Triglycerides change with statins:LDL cholesterol:Triglycerides:Total cholesterol:HDL cholesterol:Height:Advanced age-related macular degeneration (geographic atrophy):Birth weight:Infant head circumference:Adiponectin levels:Refractive error
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 57076524 1 TNKS1BP1 C T exonic nonsynonymous SNV TNKS1BP1:NM_033396:exon6:c.G3661A:p.G1221R
11 57081197 1 TNKS1BP1 G C exonic nonsynonymous SNV TNKS1BP1:NM_033396:exon5:c.C965G:p.T322S
11 57463500 1 ZDHHC5 T C exonic synonymous SNV ZDHHC5:NM_015457:exon9:c.T994C:p.L332L RS1783978 Fasting blood glucose:Serum creatinine:Total cholesterol:Height:Resistance to kuru in aged women despite likely exposure:Birth weight
11 57563991 1 CTNND1 C T exonic synonymous SNV CTNND1:NM_001085469:exon3:c.C180T:p.D60D,CTNND1:NM_001085463:exon4:c.C180T:p.D60D,CTNND1:NM_001085464:exon4:c.C180T:p.D60D,CTNND1:NM_001085465:exon4:c.C180T:p.D60D,CTNND1:NM_001085466:exon4:c.C180T:p.D60D,CTNND1:NM_001085467:exon4:c.C180T:p.D60D,CTNND1:NM_001085468:exon4:c.C180T:p.D60D,CTNND1:NM_001206890:exon4:c.C180T:p.D60D,CTNND1:NM_001085462:exon5:c.C483T:p.D161D,CTNND1:NM_001206883:exon5:c.C321T:p.D107D,CTNND1:NM_001206884:exon5:c.C321T:p.D107D,CTNND1:NM_001206886:exon5:c.C321T:p.D107D,CTNND1:NM_001206887:exon5:c.C321T:p.D107D,CTNND1:NM_001206888:exon5:c.C321T:p.D107D,CTNND1:NM_001085458:exon6:c.C483T:p.D161D,CTNND1:NM_001085459:exon6:c.C483T:p.D161D,CTNND1:NM_001085460:exon6:c.C483T:p.D161D,CTNND1:NM_001085461:exon6:c.C483T:p.D161D,CTNND1:NM_001206885:exon6:c.C483T:p.D161D,CTNND1:NM_001206889:exon6:c.C321T:p.D107D,CTNND1:NM_001206891:exon6:c.C321T:p.D107D,CTNND1:NM_001331:exon6:c.C483T:p.D161D RS10896644 Fasting blood glucose:Serum creatinine:Total cholesterol:Triglycerides:Gene expression of ZDHHC5 in blood:Gene expression of SERPING1 in blood:Resistance to kuru in aged women despite likely exposure:Birth weight
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 59344059 1 OSBP G A exonic synonymous SNV OSBP:NM_002556:exon14:c.C2415T:p.D805D
11 59423043 1 PATL1 A G exonic synonymous SNV PATL1:NM_152716:exon8:c.T984C:p.P328P
11 60609972 1 CCDC86 A G exonic synonymous SNV CCDC86:NM_024098:exon1:c.A375G:p.P125P RS2074422 Triglycerides:Total cholesterol:Microalbuminuria
11 60666341 1 PRPF19 G A exonic synonymous SNV PRPF19:NM_014502:exon12:c.C1047T:p.S349S RS3763840 Total cholesterol:Chronic kidney disease:Methylation levels at chr11:60437041-60437091 [hg18 coord, probe cg10735607] in Temporal cortex:Methylation levels at chr11:60437041-60437091 [hg18 coord, probe cg10735607] in Frontal cortex:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
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 60698054 1 TMEM132A G A exonic synonymous SNV TMEM132A:NM_017870:exon5:c.G939A:p.L313L,TMEM132A:NM_178031:exon5:c.G939A:p.L313L RS2074416 Chronic kidney disease:Methylation levels at chr11:60437041-60437091 [hg18 coord, probe cg10735607] in Temporal cortex:Methylation levels at chr11:60437041-60437091 [hg18 coord, probe cg10735607] in Frontal cortex
11 60701136 1 TMEM132A C G exonic synonymous SNV TMEM132A:NM_017870:exon8:c.C1482G:p.P494P,TMEM132A:NM_178031:exon8:c.C1479G:p.P493P
11 60899767 2 VPS37C A G exonic nonsynonymous SNV VPS37C:NM_017966:exon5:c.T593C:p.L198S RS754382 Spine bone mineral density (BMD):Fasting blood glucose:HDL cholesterol:Gene expression of CD6 in blood:Gene expression of [probe 1260762 centered at chr11:60755878] in blood:Gene expression of CD5 in blood:Serum PUFA:Serum LA/PUFA
11 61106892 2 TKFC G C exonic synonymous SNV TKFC:NM_015533:exon5:c.G471C:p.T157T
11 61108974 2 TKFC G A exonic nonsynonymous SNV TKFC:NM_015533:exon6:c.G553A:p.A185T
11 61112802 2 TKFC C T exonic synonymous SNV TKFC:NM_015533:exon14:c.C1311T:p.V437V
11 61165280 2 TMEM216 G A exonic synonymous SNV TMEM216:NM_001173990:exon4:c.G264A:p.P88P,TMEM216:NM_001173991:exon4:c.G264A:p.P88P,TMEM216:NM_001330285:exon4:c.G81A:p.P27P,TMEM216:NM_016499:exon4:c.G81A:p.P27P RS3741265 Irritible bowel syndrome:Gene expression of PGA5 in peripheral blood monocytes:Gene expression of PGA3 in peripheral blood monocytes:Gene expression of RFT1 in peripheral blood monocytes:Total cholesterol:LDL cholesterol:Mitral annular calcium
11 61165741 2 TMEM216;TMEM216 G C exonic;splicing nonsynonymous SNV TMEM216:NM_001173991:exon5:c.G440C:p.R147T,TMEM216:NM_016499:exon5:c.G257C:p.R86T RS10897158 Irritible bowel syndrome
11 61179285 2 CPSF7 G A exonic synonymous SNV CPSF7:NM_001136040:exon8:c.C1209T:p.I403I,CPSF7:NM_001142565:exon8:c.C1182T:p.I394I,CPSF7:NM_024811:exon8:c.C1338T:p.I446I
11 61539020 1 MYRF C G exonic synonymous SNV MYRF:NM_001127392:exon6:c.C789G:p.P263P,MYRF:NM_013279:exon6:c.C762G:p.P254P RS149803 HDL cholesterol:HOMA-B:Triglycerides change with statins:LDL cholesterol:HDL cholesterol:Total cholesterol:Plasma alpha-linolenic acid levels:Plasma eicosapentaenoic acid levels:Plasma docosapentaenoic acid levels:PROP taste detection threshold:Serum LA/FAw67:Serum PUFA:Serum CH2/DB:Serum Bis/DB:Plasma oleic acid:Serum Bis/FA:Serum LA/PUFA
11 61658800 2 FADS3 C T exonic synonymous SNV FADS3:NM_021727:exon1:c.G54A:p.A18A RS174465 Serum FAw3/FAw9S:Serum CH2/DB:Serum LA/FAw67:Serum DB/FA:Serum Bis/FA:Serum LA/PUFA:Serum Bis/DB:Serum PUFA
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 62294309 2 AHNAK C T exonic nonsynonymous SNV AHNAK:NM_001346445:exon5:c.G7580A:p.G2527D,AHNAK:NM_001346446:exon5:c.G7580A:p.G2527D,AHNAK:NM_001620:exon5:c.G7580A:p.G2527D
11 62298068 1 AHNAK A G exonic nonsynonymous SNV AHNAK:NM_001346445:exon5:c.T3821C:p.V1274A,AHNAK:NM_001346446:exon5:c.T3821C:p.V1274A,AHNAK:NM_001620:exon5:c.T3821C:p.V1274A
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 62484531 1 HNRNPUL2 C T exonic synonymous SNV HNRNPUL2:NM_001079559:exon11:c.G1911A:p.E637E
11 62559385 1 TMEM223 T C exonic nonsynonymous SNV TMEM223:NM_001080501:exon1:c.A82G:p.T28A
11 62564009 2 NXF1 T C exonic synonymous SNV NXF1:NM_006362:exon14:c.A1209G:p.R403R RS4693 Total cholesterol change with statins:LDL cholesterol change with statins:Urinary albumin-to-creatinine ratio
11 62575025 1 STX5 A T exonic synonymous SNV STX5:NM_001330294:exon11:c.T822A:p.S274S,STX5:NM_003164:exon11:c.T984A:p.S328S RS2228626 Total cholesterol:Total cholesterol change with statins:Serum creatinine:Body mass index (BMI):Obesity with early age of onset (age >2)
11 62592961 1 STX5 T C exonic synonymous SNV STX5:NM_001244666:exon6:c.A474G:p.R158R,STX5:NM_001330294:exon6:c.A312G:p.R104R,STX5:NM_003164:exon6:c.A474G:p.R158R RS2228627 Serum creatinine:Obesity with early age of onset (age >2)
11 62602983 1 WDR74 A G exonic synonymous SNV WDR74:NM_001307977:exon6:c.T538C:p.L180L,WDR74:NM_018093:exon7:c.T538C:p.L180L RS2298636 Total cholesterol:Total cholesterol change with statins:Serum creatinine:Body mass index (BMI):Obesity with early age of onset (age >2)
11 62652779 1 SLC3A2 C T exonic synonymous SNV SLC3A2:NM_001013251:exon6:c.C949T:p.L317L,SLC3A2:NM_001012664:exon7:c.C1066T:p.L356L,SLC3A2:NM_001012662:exon9:c.C1255T:p.L419L,SLC3A2:NM_002394:exon9:c.C1252T:p.L418L RS4726 Microalbuminuria
11 63449125 1 RTN3 C A exonic nonsynonymous SNV RTN3:NM_001265589:exon1:c.C17A:p.A6E,RTN3:NM_001265590:exon1:c.C17A:p.A6E,RTN3:NM_001265591:exon1:c.C17A:p.A6E,RTN3:NM_006054:exon1:c.C17A:p.A6E,RTN3:NM_201428:exon1:c.C17A:p.A6E,RTN3:NM_201429:exon1:c.C17A:p.A6E,RTN3:NM_201430:exon1:c.C17A:p.A6E RS11551944 Rheumatoid arthritis:Infant head circumference
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 63767186 2 MACROD1 A G exonic synonymous SNV MACROD1:NM_014067:exon6:c.T714C:p.S238S
11 63994510 1 NUDT22 C G exonic nonsynonymous SNV NUDT22:NM_001128612:exon2:c.C386G:p.T129R,NUDT22:NM_001128613:exon2:c.C386G:p.T129R,NUDT22:NM_001271831:exon2:c.C386G:p.T129R,NUDT22:NM_032344:exon2:c.C386G:p.T129R
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 64023971 1 PLCB3 G A exonic synonymous SNV PLCB3:NM_001184883:exon7:c.G621A:p.L207L,PLCB3:NM_000932:exon9:c.G822A:p.L274L,PLCB3:NM_001316314:exon9:c.G822A:p.L274L RS7943988 Crohn's disease, combined control dataset:Irritible bowel syndrome:Barnes Akathisia Rating Scale:Abnormal Involuntary Movement Scale:Rheumatoid arthritis:Years of education:Adiponectin levels
11 64026685 1 PLCB3 C T exonic synonymous SNV PLCB3:NM_001184883:exon11:c.C1293T:p.S431S,PLCB3:NM_000932:exon13:c.C1494T:p.S498S,PLCB3:NM_001316314:exon13:c.C1494T:p.S498S
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 64534484 1 SF1 T C exonic nonsynonymous SNV SF1:NM_001346410:exon11:c.A1129G:p.T377A,SF1:NM_001346363:exon12:c.A1465G:p.T489A,SF1:NM_001346364:exon12:c.A1465G:p.T489A,SF1:NM_201997:exon12:c.A1474G:p.T492A
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 64572602 2 MEN1 G A exonic synonymous SNV MEN1:NM_000244:exon9:c.C1269T:p.D423D,MEN1:NM_130799:exon9:c.C1254T:p.D418D,MEN1:NM_130800:exon9:c.C1269T:p.D423D,MEN1:NM_130801:exon9:c.C1269T:p.D423D,MEN1:NM_130802:exon9:c.C1269T:p.D423D,MEN1:NM_130803:exon9:c.C1269T:p.D423D,MEN1:NM_130804:exon10:c.C1269T:p.D423D
11 64591972 2 CDC42BPG T C exonic synonymous SNV CDC42BPG:NM_017525:exon37:c.A4629G:p.L1543L RS10792447 Total cholesterol change with statins:Gene expression of RASGRP2 (ENSG00000068831) in dendritic cells:Refractive error:Adiponectin levels:Birth weight
11 64597506 1 CDC42BPG T C exonic nonsynonymous SNV CDC42BPG:NM_017525:exon30:c.A3404G:p.Q1135R RS3741395 2 hour glucose:Total cholesterol change with statins:Birth weight:Refractive error
11 64599139 1 CDC42BPG C T exonic nonsynonymous SNV CDC42BPG:NM_017525:exon28:c.G3142A:p.A1048T
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 64622869 1 EHD1 G C exonic synonymous SNV EHD1:NM_006795:exon4:c.C1005G:p.L335L,EHD1:NM_001282445:exon5:c.C1047G:p.L349L,EHD1:NM_001282444:exon6:c.C1005G:p.L335L RS10897533 Major depressive disorder:HDL cholesterol change with statins:Waist hip ratio:Adiponectin levels
11 64645871 1 EHD1 A G exonic synonymous SNV EHD1:NM_006795:exon1:c.T66C:p.A22A,EHD1:NM_001282445:exon2:c.T108C:p.A36A,EHD1:NM_001282444:exon3:c.T66C:p.A22A RS1211284 HDL cholesterol change with statins:Bipolar disorder:Gene expression change of PPP2R5B (ENSG00000068971) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of PPP2R5B (ENSG00000068971) in dendritic cells:Salmonella-induced pyroptosis:Adiponectin levels
11 64665358 1 ATG2A T G exonic synonymous SNV ATG2A:NM_015104:exon35:c.A4947C:p.G1649G
11 64665394 1 ATG2A T C exonic synonymous SNV ATG2A:NM_015104:exon35:c.A4911G:p.E1637E
11 64677293 2 ATG2A G C exonic nonsynonymous SNV ATG2A:NM_015104:exon14:c.C1967G:p.P656R
11 64799998 2 SNX15 T C exonic synonymous SNV SNX15:NM_013306:exon3:c.T231C:p.P77P,SNX15:NM_147777:exon3:c.T231C:p.P77P RS534236 Triglycerides:HOMA-IR:Fasting insulin:Triglycerides:Height:Refractive error
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 64813685 1 NAALADL1 G C exonic nonsynonymous SNV NAALADL1:NM_005468:exon15:c.C1831G:p.L611V
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 64950970 1 CAPN1 C T exonic synonymous SNV CAPN1:NM_001198868:exon4:c.C363T:p.I121I,CAPN1:NM_001198869:exon4:c.C363T:p.I121I,CAPN1:NM_005186:exon4:c.C363T:p.I121I RS17583 HDL cholesterol
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 65168281 1 FRMD8 C T exonic synonymous SNV FRMD8:NM_001300832:exon8:c.C846T:p.F282F,FRMD8:NM_001300833:exon8:c.C912T:p.F304F,FRMD8:NM_031904:exon9:c.C1014T:p.F338F RS2073801 Cystatin C in serum:Height:Hypertension (early onset hypertension):Gene expression of SLC25A45 (ENSG00000162241) in dendritic cells treated with Mycobacterium tuberculosis:Parkinson's disease:Gene expression of FRMD8 (ENSG00000126391) in dendritic cells
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 65386206 1 PCNX3 C G exonic nonsynonymous SNV PCNX3:NM_032223:exon6:c.C1373G:p.S458C RS1193851 Triglycerides:HDL cholesterol:Fasting insulin:Serum creatinine:HDL cholesterol:Microalbuminuria:Gene expression of KAT5 [transcript NM_182710, probe 7550228] in liver:Infant head circumference:Adiponectin levels:Aortic valve calcium
11 65392695 1 PCNX3 C T exonic synonymous SNV PCNX3:NM_032223:exon17:c.C2973T:p.L991L RS1205259 LDL cholesterol:Fasting blood glucose:Fasting insulin:Chronic kidney disease:Serum creatinine:HDL cholesterol:LDL cholesterol:Total cholesterol:Triglycerides:Height:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Microalbuminuria:Gene expression of [probe 3780382 centered at chr11:65300244] in blood:Gene expression of SCYL1 in blood:Gene expression of MAP3K11///SIPA1 in blood:Gene expression of [probe 3830433 centered at chr11:65295241] in blood:Aortic valve calcium:Obesity with early age of onset (age >2):Adiponectin levels
11 65546857 1 AP5B1 A C exonic synonymous SNV AP5B1:NM_138368:exon2:c.T1107G:p.L369L RS610037 LDL cholesterol:Serum creatinine:Chronic kidney disease:Gene expression of AYP1P1 in peripheral blood monocytes:Gene expression of MAP3K11 in peripheral blood monocytes:LDL cholesterol:Total cholesterol:Height:Urinary albumin-to-creatinine ratio:Gene expression of EFEMP2 (ENSG00000172638) in dendritic cells treated with Mycobacterium tuberculosis:Infant head circumference
11 65547333 1 AP5B1 G A exonic nonsynonymous SNV AP5B1:NM_138368:exon2:c.C631T:p.L211F RS12146493 Total cholesterol:LDL cholesterol:Total cholesterol:Myocardial infarction (MI):Gene expression of OVOL1 (ENSG00000172818) in dendritic cells treated with Mycobacterium tuberculosis:Infant head circumference:Birth weight
11 65547455 1 AP5B1 C A exonic nonsynonymous SNV AP5B1:NM_138368:exon2:c.G509T:p.G170V
11 65623519 2 CFL1 G A exonic synonymous SNV CFL1:NM_005507:exon2:c.C198T:p.D66D
11 65628334 2 MUS81 G A exonic nonsynonymous SNV MUS81:NM_001350283:exon1:c.G110A:p.R37H,MUS81:NM_025128:exon1:c.G110A:p.R37H RS13817 Gene expression of FLJ30934 [probe 3335600] in brain cortex:Differential exon level expression of FLJ30934 [probe 3335626] in brain cortex:Fasting blood glucose:LDL cholesterol change with statins:Total cholesterol change with statins:HDL cholesterol change with statins:HDL cholesterol:Gene expression of EFEMP2 in CD4+ lymphocytes:Height:Neuroblastoma (brain cancer):Late onset Alzheimer's disease:Gene expression of EIF1AD///BANF1 in blood:Gene expression of [probe 3830433 centered at chr11:65295241] in blood:Gene expression of MUS81///EFEMP2 in blood:Gene expression of CTSW///FIBP in blood:Gene expression of BANF1 in blood:Gene expression of EFEMP2 [probeset 206580_s_at] in sputum:College completion:Gene expression of SNX32 in normal prepouch ileum:Gene expression of CTSW in normal prepouch ileum:Gene expression of SNX32 (probeID ILMN_1683737) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of SNX32 (probeID ILMN_1683737) in cerebellum in Alzheimer's disease cases and controls
11 65629932 2 MUS81 T C exonic synonymous SNV MUS81:NM_001350283:exon6:c.T537C:p.A179A,MUS81:NM_025128:exon6:c.T537C:p.A179A RS659857 Fasting blood glucose:HOMA-IR:LDL cholesterol change with statins:Total cholesterol change with statins:HDL cholesterol change with statins:HDL cholesterol:Height:Gene expression of SNX32 (probeID ILMN_1683737) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CTSW in normal prepouch ileum:Gene expression of SNX32 in normal prepouch ileum:Gene expression of SNX32 (probeID ILMN_1683737) in cerebellum in Alzheimer's disease cases and controls:College completion
11 65629934 2 MUS81 G C exonic nonsynonymous SNV MUS81:NM_001350283:exon6:c.G539C:p.R180P,MUS81:NM_025128:exon6:c.G539C:p.R180P
11 65631167 2 MUS81 C T exonic synonymous SNV MUS81:NM_001350283:exon9:c.C936T:p.A312A,MUS81:NM_025128:exon9:c.C936T:p.A312A RS648732 Fasting blood glucose:HOMA-IR:LDL cholesterol change with statins:Total cholesterol change with statins:HDL cholesterol change with statins:HDL cholesterol:Height:Gene expression of SNX32 in normal prepouch ileum:Gene expression of SNX32 (probeID ILMN_1683737) in temporal cortex in Alzheimer's disease cases and controls:College completion:Gene expression of SNX32 (probeID ILMN_1683737) in cerebellum in Alzheimer's disease cases and controls:Gene expression of CTSW in normal prepouch ileum
11 65632262 2 MUS81 G T exonic synonymous SNV MUS81:NM_001350283:exon12:c.G1251T:p.T417T,MUS81:NM_025128:exon12:c.G1248T:p.T416T RS558114 Gene expression of SNX32 in normal prepouch ileum:Gene expression of CTSW in normal prepouch ileum
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 65667796 1 FOSL1 G A exonic synonymous SNV FOSL1:NM_001300844:exon1:c.C15T:p.F5F,FOSL1:NM_001300855:exon1:c.C15T:p.F5F,FOSL1:NM_001300856:exon1:c.C15T:p.F5F,FOSL1:NM_001300857:exon1:c.C15T:p.F5F,FOSL1:NM_005438:exon1:c.C15T:p.F5F
11 65685225 2 C11orf68 T C exonic nonsynonymous SNV C11orf68:NM_001135635:exon2:c.A587G:p.Q196R,C11orf68:NM_031450:exon2:c.A584G:p.Q195R
11 65732651 1 SART1 G A exonic synonymous SNV SART1:NM_005146:exon4:c.G516A:p.A172A RS550435 LDL cholesterol:Height:Infant head circumference:Gene expression of SNX32 in normal prepouch ileum
11 65733393 1 SART1 C T exonic synonymous SNV SART1:NM_005146:exon7:c.C774T:p.T258T RS688862 Fasting insulin:HOMA-IR:LDL cholesterol change with statins:Adiponectin levels
11 65735174 1 SART1 G C exonic nonsynonymous SNV SART1:NM_005146:exon12:c.G1454C:p.G485A RS660118 LDL cholesterol:Height:Infant head circumference:Adiponectin levels
11 65826704 1 SF3B2 G A exonic synonymous SNV SF3B2:NM_006842:exon11:c.G1215A:p.K405K
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 66083129 2 CD248 T C exonic nonsynonymous SNV CD248:NM_020404:exon1:c.A1370G:p.H457R RS3741367 Gene expression of LOC401233 in lymphoblastoid cell lines:HOMA-B:Fasting insulin:HOMA-IR:HDL cholesterol:Waist hip ratio:Gene expression of DPP3 in blood:Gene expression of RIN1///BRMS1 in blood:Infant head circumference:Tetrology of fallot:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:College completion:Primary rhegmatogenous retinal detachment:Years of education:Hypertension (early onset hypertension):Adiponectin levels
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 66109033 2 BRMS1 T C exonic synonymous SNV BRMS1:NM_001024957:exon3:c.A201G:p.L67L,BRMS1:NM_015399:exon3:c.A201G:p.L67L
11 66254085 1 DPP3 G T exonic nonsynonymous SNV DPP3:NM_001256670:exon3:c.G345T:p.Q115H,DPP3:NM_005700:exon4:c.G435T:p.Q145H,DPP3:NM_130443:exon4:c.G435T:p.Q145H RS11550299 Rheumatoid arthritis:LDL cholesterol:Serum creatinine:LDL cholesterol:Height:Gene expression of DPP3 in blood:Gene expression of CCDC87///CCS in blood:Gene expression of CCS in blood:Gene expression of PELI3 in blood:Variant Creutzfeldt-Jakob disease:Gene expression of DPP3 in normal prepouch ileum:Gene expression of ACTN3 (probeID ILMN_1665691) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ACTN3 (probeID ILMN_1665691) in temporal cortex in Alzheimer's disease cases and controls:Tetrology of fallot
11 66272142 2 DPP3 A G exonic synonymous SNV DPP3:NM_001256670:exon16:c.A1848G:p.T616T,DPP3:NM_005700:exon17:c.A1938G:p.T646T,DPP3:NM_130443:exon17:c.A1938G:p.T646T RS1671063 2 hour glucose:Serum creatinine:Height:Mitral annular calcium:Tetrology of fallot
11 66272237 1 DPP3 G A exonic nonsynonymous SNV DPP3:NM_001256670:exon16:c.G1943A:p.R648H,DPP3:NM_005700:exon17:c.G2033A:p.R678H,DPP3:NM_130443:exon17:c.G2033A:p.R678H RS2305535 Rheumatoid arthritis:2 hour glucose:Serum creatinine:Gene expression of CCS in peripheral blood monocytes:LDL cholesterol:Total cholesterol:Height:Waist hip ratio:Gene expression of DPP3 in blood:Gene expression of CCDC87///CCS in blood:Gene expression of PELI3 in blood:Gene expression of CCS in blood:Variant Creutzfeldt-Jakob disease:Tetrology of fallot:Gene expression of ACTN3 (probeID ILMN_1665691) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ACTN3 (probeID ILMN_1665691) in temporal cortex in Alzheimer's disease cases and controls
11 66282095 1 BBS1 G A exonic synonymous SNV BBS1:NM_024649:exon4:c.G378A:p.L126L RS2298806 Rheumatoid arthritis:2 hour glucose:Serum creatinine:LDL cholesterol:Total cholesterol:Height:Waist hip ratio:Gene expression of DPP3 in blood:Gene expression of CCDC87///CCS in blood:Gene expression of PELI3 in blood:Gene expression of CCS in blood:Variant Creutzfeldt-Jakob disease:Gene expression of ACTN3 (probeID ILMN_1665691) in cerebellum in Alzheimer's disease cases and controls:Tetrology of fallot:Gene expression of ACTN3 (probeID ILMN_1665691) in temporal cortex in Alzheimer's disease cases and controls
11 66297363 1 BBS1 C T exonic synonymous SNV BBS1:NM_024649:exon14:c.C1413T:p.L471L RS3816492 Rheumatoid arthritis:2 hour glucose:HDL cholesterol change with statins:Serum creatinine:LDL cholesterol:Total cholesterol:Height:Waist hip ratio:Gene expression of CCS in blood:Gene expression of CCDC87///CCS in blood:Gene expression of PELI3 in blood:Gene expression of DPP3 in blood:Variant Creutzfeldt-Jakob disease:Gene expression of ACTN3 (probeID ILMN_1665691) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Tetrology of fallot:Gene expression of ACTN3 (probeID ILMN_1665691) in cerebellum in Alzheimer's disease cases and controls
11 66373305 1 CCS G A exonic synonymous SNV CCS:NM_005125:exon8:c.G804A:p.A268A
11 66392880 1 RBM14 C T exonic synonymous SNV RBM14:NM_006328:exon2:c.C1533T:p.T511T
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 67395714 1 NUDT8 C T exonic synonymous SNV NUDT8:NM_001243750:exon4:c.G414A:p.E138E RS7124513 Differential exon level expression of GSTP1 [probe 3337192] in peripheral blood mononuclear cells:Differential exon level expression of GSTP1 [probe 3337192] in brain cortex:Methylation levels at chr11:67129690-67129740 [hg18 coord, probe cg06235429] in Temporal cortex:Methylation levels at chr11:67129690-67129740 [hg18 coord, probe cg06235429] in Cerebellum:Methylation levels at chr11:67129609-67129659 [hg18 coord, probe cg09701102] in Frontal cortex:Methylation levels at chr11:67129609-67129659 [hg18 coord, probe cg09701102] in Cerebellum:Methylation levels at chr11:67129690-67129740 [hg18 coord, probe cg06235429] in Frontal cortex:Triglycerides:Height:Gene expression of CDK2AP2 [transcript NM_005851, probe A_23_P104579] in liver:Gene expression of GSTP1 in blood:Gene expression of PTPRCAP///CORO1B in blood:Gene expression of RPS6KB2 in blood:Gene expression of TBX10 in normal prepouch ileum:Refractive error
11 67414492 2 ACY3 C T exonic nonsynonymous SNV ACY3:NM_080658:exon3:c.G23A:p.R8Q RS948445 Asthma:Partial epilepsy:Sporadic Creutzfeldt-Jakob disease:Gene expression of ACY3 in normal prepouch ileum:Mitral annular calcium:Acute lung injury following major trauma:Parkinson's disease:Hypertension (early onset hypertension)
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 67804025 1 NDUFS8 G A exonic nonsynonymous SNV NDUFS8:NM_002496:exon7:c.G598A:p.A200T
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 68030173 2 C11orf24 C A exonic nonsynonymous SNV C11orf24:NM_022338:exon4:c.G290T:p.G97V RS3802746 Lumbar spine bone mineral density (BMD):Arthritis including non-Rheumatoid:Gene expression of C11orf24 in blood:Systolic blood pressure (SBP):Advanced age-related macular degeneration:Primary rhegmatogenous retinal detachment
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 68174189 1 LRP5 G A exonic nonsynonymous SNV LRP5:NM_001291902:exon9:c.G256A:p.V86M,LRP5:NM_002335:exon9:c.G1999A:p.V667M RS4988321 Obesity with early age of onset (age >2)
11 68177510 1 LRP5 C T exonic synonymous SNV LRP5:NM_001291902:exon10:c.C477T:p.N159N,LRP5:NM_002335:exon10:c.C2220T:p.N740N RS2306862 Gene expression of probe 1559119_at in lymphoblastoid cell lines:Spine bone mineral density (BMD):Lumbar spine bone mineral density (BMD):Irritible bowel syndrome:Height:Renal cell carcinoma (renal cancer):Sporadic Creutzfeldt-Jakob disease:Amyotrophic lateral sclerosis (ALS) age of onset:Aortic valve calcium
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 68678962 2 IGHMBP2 T C exonic nonsynonymous SNV IGHMBP2:NM_002180:exon5:c.T602C:p.L201S RS560096 Parkinson's disease (PD):Arthritis including non-Rheumatoid:2 hour glucose:HDL cholesterol change with statins:Gene expression of CPT1A in peripheral blood monocytes:Gene expression of MRPL21 in peripheral blood monocytes:Gene expression of MRPL21 in blood:Gene expression of IGHMBP2 in blood:College completion
11 68682402 1 IGHMBP2 A G exonic nonsynonymous SNV IGHMBP2:NM_002180:exon6:c.A823G:p.I275V RS10896380 Longstanding arthritis:HDL cholesterol:Schizophrenia:LDL cholesterol change with statins:Total cholesterol change with statins:Rheumatoid arthritis:Gene expression of MRPL21 in peripheral blood monocytes:Gene expression of MRPL21 in blood:Gene expression of IGHMBP2 in normal prepouch ileum:Infant head circumference
11 68703959 1 IGHMBP2 A G exonic nonsynonymous SNV IGHMBP2:NM_002180:exon13:c.A2011G:p.T671A RS622082 Gene expression of MRPL21 in CEU-CHB-JPT lymphoblastoid cell lines:HDL cholesterol:Differential exon level expression of MRPL21 [probe 3379723] in brain cortex:Gene expression of MRPL21 [probe 3379708] in brain cortex:HDL cholesterol:Total cholesterol:Gene expression of MRPL21 in CD4+ lymphocytes:Gene expression of IGHMBP2 in CD4+ lymphocytes:Asthma:Waist hip ratio:Renal cell carcinoma (renal cancer):Gene expression of IGHMBP2 in blood:Gene expression of MRPL21 in blood:Gene expression of TPCN2 in blood:Systolic blood pressure (SBP):Gene expression of MRPL21 [probeset 225315_at] in sputum:Gene expression of IGHMBP2 [probeset 243746_at] in sputum:Bipolar disorder:Gene expression of MRPL21 (probeID ILMN_1744835) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of MRPL21 (probeID ILMN_1744835) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MRPL21 (probeID ILMN_2348050) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MRPL21 (probeID ILMN_2348050) in cerebellum in Alzheimer's disease cases:Gene expression of MRPL21 (probeID ILMN_1744835) in temporal cortex in Alzheimer's disease cases:Gene expression of MRPL21 (probeID ILMN_2348050) in cerebellum in Progressive Supranuclear Palsy cases:College completion:Gene expression of MRPL21 (probeID ILMN_1744835) in cerebellum in Alzheimer's disease cases:Gene expression of MRPL21 (probeID ILMN_2348050) in temporal cortex in Alzheimer's disease cases:Gene expression of MRPL21 (probeID ILMN_1744835) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of IGHMBP2 in normal prepouch ileum:Gene expression of MRPL21 (probeID ILMN_1744835) in cerebellum in non-Alzheimer's disease samples:Gene expression of MRPL21 (probeID ILMN_2348050) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of MRPL21 (probeID ILMN_1744835) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of MRPL21 in normal prepouch ileum:Mitral annular calcium:Gene expression of MRPL21 (probeID ILMN_2348050) in cerebellum in non-Alzheimer's disease samples
11 68704028 1 IGHMBP2 C T exonic nonsynonymous SNV IGHMBP2:NM_002180:exon13:c.C2080T:p.R694W RS2236654 HDL cholesterol:LDL cholesterol change with statins:Total cholesterol change with statins:Rheumatoid arthritis:Triglycerides:Gene expression of IGHMBP2 in normal prepouch ileum:Infant head circumference
11 68704264 1 IGHMBP2 C T exonic synonymous SNV IGHMBP2:NM_002180:exon13:c.C2316T:p.S772S RS546382 Gene expression of MRPL21 in CEU-CHB-JPT lymphoblastoid cell lines:HDL cholesterol:HDL cholesterol:Total cholesterol:Waist hip ratio:Renal cell carcinoma (renal cancer):Systolic blood pressure (SBP):Bipolar disorder:Gene expression of MRPL21 (probeID ILMN_2348050) in cerebellum in Alzheimer's disease cases and controls:Gene expression of IGHMBP2 in normal prepouch ileum:College completion:Mitral annular calcium:Gene expression of MRPL21 (probeID ILMN_2348050) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of MRPL21 (probeID ILMN_1744835) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of MRPL21 (probeID ILMN_1744835) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MRPL21 in normal prepouch ileum
11 70118489 1 PPFIA1 G A exonic nonsynonymous SNV PPFIA1:NM_003626:exon2:c.G211A:p.V71I,PPFIA1:NM_177423:exon2:c.G211A:p.V71I RS546502 Hypertension, combined control dataset:Gene expression of PPFIA1 in peripheral blood monocytes:Gene expression of PPFIA1 in blood:Resistance to kuru in aged women despite likely exposure:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of PPFIA1 in normal prepouch ileum:Parkinson's disease:Transmission distortion:Paternal transmission distortion
11 70279766 1 CTTN C T exonic synonymous SNV CTTN:NM_001184740:exon16:c.C1347T:p.Y449Y,CTTN:NM_138565:exon16:c.C1347T:p.Y449Y,CTTN:NM_005231:exon17:c.C1458T:p.Y486Y RS643301 Total cholesterol:Gene expression of PPFIA1 in blood:Resistance to kuru in aged women despite likely exposure:Parkinson's disease:Gene expression of PPFIA1 in normal prepouch ileum
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 71941212 1 INPPL1 A G exonic synonymous SNV INPPL1:NM_001567:exon9:c.A987G:p.S329S RS2276048 Arthritis including non-Rheumatoid:HDL cholesterol change with statins:Gene expression of FOLR3 in peripheral blood monocytes:Asthma:Gene expression of FOLR2 in liver:Gene expression of ILI8BP in blood:Variant Creutzfeldt-Jakob disease:Salmonella-induced pyroptosis:Primary rhegmatogenous retinal detachment:Transmission distortion:Gene expression of INPPL1 (probeID ILMN_1728426) in temporal cortex in Alzheimer's disease cases and controls:Birth weight:Gene expression of INPPL1 (probeID ILMN_1728426) in cerebellum in Alzheimer's disease cases and controls
11 71942104 1 INPPL1 C T exonic synonymous SNV INPPL1:NM_001567:exon12:c.C1368T:p.D456D
11 71943960 1 INPPL1 C A exonic synonymous SNV INPPL1:NM_001567:exon16:c.C1893A:p.L631L
11 71943961 1 INPPL1 C A exonic nonsynonymous SNV INPPL1:NM_001567:exon16:c.C1894A:p.L632I
11 71948536 1 INPPL1 C G exonic nonsynonymous SNV INPPL1:NM_001567:exon26:c.C3248G:p.A1083G RS11548491 Stroke
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 73825503 2 C2CD3 T C exonic synonymous SNV C2CD3:NM_001286577:exon10:c.A1656G:p.P552P,C2CD3:NM_015531:exon10:c.A1656G:p.P552P RS10898957 Comorbid depressive syndrome and alcohol dependence:Bipolar disorder:Salmonella-induced pyroptosis
11 74203308 1 LIPT2 T A exonic nonsynonymous SNV LIPT2:NM_001144869:exon2:c.A568T:p.T190S RS586088 Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration (geographic atrophy):Refractive error:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
11 74559446 1 XRRA1 G C exonic nonsynonymous SNV XRRA1:NM_001270380:exon12:c.C1157G:p.T386R,XRRA1:NM_001270381:exon12:c.C593G:p.T198R,XRRA1:NM_182969:exon15:c.C1418G:p.T473R RS4944960 Gene expression of XRRA1 [probe 230557_at] in lymphoblastoid cell lines:Gene expression of XRRA1 [probe 237666_at] in lymphoblastoid cell lines:HDL cholesterol:Tardive dyskinesia:Lp-PLA2 activity:Height:Body mass index (BMI):College completion:Years of education
11 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 74883559 1 SLCO2B1 G A exonic nonsynonymous SNV SLCO2B1:NM_001145212:exon4:c.G485A:p.R162H,SLCO2B1:NM_001145211:exon7:c.G851A:p.R284H,SLCO2B1:NM_007256:exon7:c.G917A:p.R306H
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 76507692 2 TSKU T A exonic nonsynonymous SNV TSKU:NM_001258210:exon2:c.T1032A:p.D344E,TSKU:NM_001318477:exon2:c.T1074A:p.D358E,TSKU:NM_001318478:exon2:c.T1032A:p.D344E,TSKU:NM_001318479:exon2:c.T1032A:p.D344E,TSKU:NM_015516:exon2:c.T1032A:p.D344E
11 76637651 2 ACER3 G A exonic nonsynonymous SNV ACER3:NM_018367:exon2:c.G154A:p.V52I RS4379869 Gene expression of PHCA in blood cells in Celiac disease:Differential exon level expression of PHCA [probe 3341083] in brain cortex:Differential exon level expression of PHCA [probe 3341092] in brain cortex:Differential exon level expression of PHCA [probe 3341092] in peripheral blood mononuclear cells:Differential exon level expression of PHCA [probe 3341083] in peripheral blood mononuclear cells:Fasting insulin:Rheumatoid arthritis:Gene expression of PHCA in blood:Hypertension (early onset hypertension)
11 76637680 2 ACER3 G A exonic synonymous SNV ACER3:NM_018367:exon2:c.G183A:p.K61K
11 76868372 1 MYO7A T C exonic synonymous SNV MYO7A:NM_000260:exon8:c.T783C:p.G261G,MYO7A:NM_001127179:exon8:c.T783C:p.G261G,MYO7A:NM_001127180:exon8:c.T783C:p.G261G RS762667 Schizophrenia:Total cholesterol change with statins:LDL cholesterol change with statins:Pulse pressure:Gene expression of MYO7A [probeset 211103_at] in sputum
11 76917220 1 MYO7A A G exonic synonymous SNV MYO7A:NM_000260:exon41:c.A5715G:p.K1905K,MYO7A:NM_001127180:exon41:c.A5601G:p.K1867K RS2276293 Fasting blood glucose:Childhood acute lymphoblastic leukemia:HDL cholesterol change with statins:Mitral annular calcium
11 77790653 2 NDUFC2;NDUFC2-KCTD14 T C exonic synonymous SNV NDUFC2-KCTD14:NM_001203260:exon1:c.A138G:p.L46L,NDUFC2-KCTD14:NM_001203261:exon1:c.A138G:p.L46L,NDUFC2-KCTD14:NM_001203262:exon1:c.A138G:p.L46L,NDUFC2:NM_001204054:exon1:c.A138G:p.L46L,NDUFC2:NM_001204055:exon1:c.A138G:p.L46L,NDUFC2:NM_004549:exon1:c.A138G:p.L46L
11 77790655 1 NDUFC2;NDUFC2-KCTD14 G C exonic nonsynonymous SNV NDUFC2-KCTD14:NM_001203260:exon1:c.C136G:p.L46V,NDUFC2-KCTD14:NM_001203261:exon1:c.C136G:p.L46V,NDUFC2-KCTD14:NM_001203262:exon1:c.C136G:p.L46V,NDUFC2:NM_001204054:exon1:c.C136G:p.L46V,NDUFC2:NM_001204055:exon1:c.C136G:p.L46V,NDUFC2:NM_004549:exon1:c.C136G:p.L46V
11 77825320 1 ALG8 T C exonic nonsynonymous SNV ALG8:NM_001007027:exon6:c.A665G:p.N222S,ALG8:NM_024079:exon6:c.A665G:p.N222S RS665278 LDL cholesterol:Schizophrenia:Cystatin C in serum:Refractive error
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 78277277 2 NARS2 A G exonic synonymous SNV NARS2:NM_024678:exon4:c.T414C:p.Y138Y RS10751296 Simpson-Angus Scale:Gene expression of NARS2 [probe 219217_at] in prefrontal cortex:Serum creatinine:Gene expression of NARS2 in peripheral blood monocytes:Total cholesterol:Urinary albumin-to-creatinine ratio:Gene expression of NARS2 (probeID ILMN_1797332) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of NARS2 (probeID ILMN_1797332) in cerebellum in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
11 78279790 2 NARS2 T G exonic nonsynonymous SNV NARS2:NM_024678:exon3:c.A260C:p.N87T RS10501429 Gene expression of EFHA2 in liver:Gene expression of HSS00063588 in liver:Eye color:Gene expression of NARS2 [probe 3383322] in brain cortex:Serum creatinine:Total cholesterol:Asthma:Gene expression of NARS2 [probe ILMN_13605] in osteoblasts treated with BMP2:Urinary albumin-to-creatinine ratio:Gene expression of NARS2 in blood:Age at death with kuru exposure:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of NARS2 (probeID ILMN_1797332) in cerebellum in Alzheimer's disease cases and controls:Gene expression of NARS2 in normal prepouch ileum:Gene expression of NARS2 (ENSG00000137513) in dendritic cells:Gene expression of NARS2 (ENSG00000137513) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of NARS2 (probeID ILMN_1797332) in temporal cortex in Alzheimer's disease cases and controls
11 82875359 1 PCF11 G A exonic synonymous SNV PCF11:NM_001346413:exon4:c.G618A:p.Q206Q,PCF11:NM_001346414:exon4:c.G618A:p.Q206Q,PCF11:NM_001346415:exon4:c.G618A:p.Q206Q,PCF11:NM_015885:exon4:c.G618A:p.Q206Q RS7130527 Fasting blood glucose:Advanced age-related macular degeneration
11 82879951 1 PCF11 A T exonic synonymous SNV PCF11:NM_001346413:exon8:c.A2967T:p.G989G,PCF11:NM_001346414:exon8:c.A2967T:p.G989G,PCF11:NM_001346415:exon8:c.A2574T:p.G858G,PCF11:NM_015885:exon8:c.A2574T:p.G858G
11 82880341 1 PCF11 G A exonic synonymous SNV PCF11:NM_001346413:exon8:c.G3357A:p.Q1119Q,PCF11:NM_001346414:exon8:c.G3357A:p.Q1119Q,PCF11:NM_001346415:exon8:c.G2964A:p.Q988Q,PCF11:NM_015885:exon8:c.G2964A:p.Q988Q RS12284052 Fasting blood glucose:Advanced age-related macular degeneration
11 82996986 2 CCDC90B A C exonic nonsynonymous SNV CCDC90B:NM_021825:exon1:c.T30G:p.F10L RS494791 Partial epilepsy:Triglycerides:Bipolar disorder:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
11 85374993 1 CREBZF C T exonic synonymous SNV CREBZF:NM_001039618:exon1:c.G927A:p.P309P RS1192 Advanced age-related macular degeneration:College completion:Years of education:Advanced age-related macular degeneration (geographic atrophy)
11 85725937 1 PICALM C T exonic synonymous SNV PICALM:NM_001008660:exon5:c.G522A:p.Q174Q,PICALM:NM_001206946:exon5:c.G522A:p.Q174Q,PICALM:NM_001206947:exon5:c.G369A:p.Q123Q,PICALM:NM_007166:exon5:c.G522A:p.Q174Q RS592297 Alzheimer's disease:2 hour glucose:Fasting blood glucose:Cystatin C in serum:Serum creatinine:Gene expression of PICALM (ENSG00000073921) in dendritic cells
11 87013438 2 TMEM135 G A exonic nonsynonymous SNV TMEM135:NM_001168724:exon7:c.G586A:p.G196R,TMEM135:NM_022918:exon8:c.G652A:p.G218R RS2276102 Spine bone mineral density (BMD):Eye color:Schizophrenia:Rheumatoid arthritis
11 88027209 2 CTSC T C exonic nonsynonymous SNV CTSC:NM_001814:exon7:c.A1357G:p.I453V RS3888798 Barnes Akathisia Rating Scale
11 88027393 2 CTSC A C exonic synonymous SNV CTSC:NM_001814:exon7:c.T1173G:p.T391T
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 93462846 1 CEP295 C T exonic nonsynonymous SNV CEP295:NM_033395:exon27:c.C7466T:p.S2489L
11 93517874 1 MED17 C G exonic synonymous SNV MED17:NM_004268:exon1:c.C195G:p.G65G
11 93517886 1 MED17 G C exonic nonsynonymous SNV MED17:NM_004268:exon1:c.G207C:p.E69D
11 93862493 2 PANX1 A C exonic nonsynonymous SNV PANX1:NM_015368:exon1:c.A15C:p.Q5H RS1138800 Total cholesterol change with statins:Autism with high IQ:Autism
11 94862577 1 ENDOD1 G T exonic nonsynonymous SNV ENDOD1:NM_015036:exon2:c.G1337T:p.G446V RS3740861 Amyotrophic lateral sclerosis (ALS):HDL cholesterol:LDL cholesterol:Waist hip ratio:Gene expression of ENDOD1 in blood:Salmonella-induced pyroptosis
11 95512060 1 FAM76B A G exonic synonymous SNV FAM76B:NM_001330357:exon8:c.T751C:p.L251L,FAM76B:NM_144664:exon8:c.T754C:p.L252L RS1150360 Gene expression of FAM76B in blood cells in Celiac disease:Total cholesterol:Rheumatoid arthritis:LDL cholesterol:Total cholesterol:Gene expression of FAM76B in CD4+ lymphocytes:Gene expression of FAM76B in blood:Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration (geographic atrophy):Gene expression of CEP57 in normal prepouch ileum
11 95546226 1 CEP57 G C exonic nonsynonymous SNV CEP57:NM_001243777:exon3:c.G333C:p.Q111H,CEP57:NM_014679:exon3:c.G333C:p.Q111H,CEP57:NM_001243776:exon4:c.G306C:p.Q102H
11 102196019 1 BIRC3 A G exonic nonsynonymous SNV BIRC3:NM_001165:exon2:c.A779G:p.K260R,BIRC3:NM_182962:exon3:c.A779G:p.K260R
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 107992346 1 ACAT1 G C exonic nonsynonymous SNV ACAT1:NM_000019:exon1:c.G13C:p.A5P RS3741056 Total cholesterol:Total cholesterol:HDL cholesterol
11 108009660 1 ACAT1 C A exonic synonymous SNV ACAT1:NM_000019:exon6:c.C471A:p.S157S
11 108183167 2 ATM A G exonic nonsynonymous SNV ATM:NM_000051:exon40:c.A5948G:p.N1983S
11 108224537 1 ATM G A exonic nonsynonymous SNV ATM:NM_000051:exon60:c.G8716A:p.V2906I
11 111179054 2 COLCA2 A G exonic synonymous SNV COLCA2:NM_001136105:exon5:c.A357G:p.A119A,COLCA2:NM_001271457:exon5:c.A357G:p.A119A,COLCA2:NM_001271458:exon5:c.A648G:p.A216A
11 111724133 1 ALG9 C T exonic nonsynonymous SNV ALG9:NM_001077691:exon8:c.G352A:p.V118I,ALG9:NM_001077692:exon8:c.G352A:p.V118I,ALG9:NM_001077690:exon9:c.G865A:p.V289I,ALG9:NM_024740:exon9:c.G865A:p.V289I RS10502151 Irritible bowel syndrome:Alzheimer's disease:HDL cholesterol:Waist hip ratio:College completion:Years of education:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
11 111754574 1 C11orf1 A C exonic nonsynonymous SNV C11orf1:NM_001330371:exon3:c.A356C:p.Q119P RS1045282 Triglycerides change with statins:College completion:Advanced age-related macular degeneration:Gene expression of C11orf52 (ENSG00000149300) in dendritic cells treated with Mycobacterium tuberculosis:Years of education
11 111896324 1 DLAT C T exonic nonsynonymous SNV DLAT:NM_001931:exon1:c.C128T:p.A43V RS2303436 Gene expression of PPP2R1B in peripheral blood monocytes:HDL cholesterol:Gene expression of C11orf57 in CD4+ lymphocytes:Waist hip ratio:Gene expression of C11orf34 in blood:College completion:Lymphocyte count
11 111908162 1 DLAT T C exonic nonsynonymous SNV DLAT:NM_001931:exon6:c.T953C:p.V318A RS627441 HDL cholesterol:Gene expression of C11orf57 in CD4+ lymphocytes:Waist hip ratio:Gene expression of C11orf34 in blood:Age at death with kuru exposure:College completion
11 111916647 1 DLAT G A exonic nonsynonymous SNV DLAT:NM_001931:exon10:c.G1351A:p.D451N RS10891314 Total cholesterol:HDL cholesterol:Gene expression of C11orf57 in CD4+ lymphocytes:Gene expression of C11orf34 in blood:Age at death with kuru exposure:College completion
11 113670052 2 USP28 T A exonic synonymous SNV USP28:NM_001346268:exon21:c.A2145T:p.T715T,USP28:NM_001301029:exon22:c.A2673T:p.T891T,USP28:NM_001346259:exon23:c.A2970T:p.T990T,USP28:NM_001346260:exon23:c.A2772T:p.T924T,USP28:NM_001346261:exon23:c.A2769T:p.T923T,USP28:NM_001346262:exon23:c.A2673T:p.T891T,USP28:NM_001346267:exon23:c.A2145T:p.T715T,USP28:NM_001346272:exon23:c.A1992T:p.T664T,USP28:NM_001346257:exon24:c.A3066T:p.T1022T,USP28:NM_001346258:exon24:c.A3048T:p.T1016T,USP28:NM_001346264:exon24:c.A2331T:p.T777T,USP28:NM_001346269:exon24:c.A2088T:p.T696T,USP28:NM_001346253:exon25:c.A3252T:p.T1084T,USP28:NM_001346254:exon25:c.A3147T:p.T1049T,USP28:NM_001346263:exon25:c.A2469T:p.T823T,USP28:NM_020886:exon25:c.A3144T:p.T1048T,USP28:NM_001346252:exon26:c.A3330T:p.T1110T,USP28:NM_001346255:exon26:c.A3135T:p.T1045T,USP28:NM_001346271:exon26:c.A2088T:p.T696T,USP28:NM_001346265:exon27:c.A2274T:p.T758T,USP28:NM_001346270:exon27:c.A2088T:p.T696T
11 113679119 1 USP28 C T exonic synonymous SNV USP28:NM_001346268:exon14:c.G1206A:p.S402S,USP28:NM_001301029:exon16:c.G1830A:p.S610S,USP28:NM_001346260:exon16:c.G1833A:p.S611S,USP28:NM_001346261:exon16:c.G1830A:p.S610S,USP28:NM_001346264:exon16:c.G1206A:p.S402S,USP28:NM_001346267:exon16:c.G1206A:p.S402S,USP28:NM_001346253:exon17:c.G2127A:p.S709S,USP28:NM_001346257:exon17:c.G2127A:p.S709S,USP28:NM_001346259:exon17:c.G2127A:p.S709S,USP28:NM_001346262:exon17:c.G1830A:p.S610S,USP28:NM_001346263:exon17:c.G1344A:p.S448S,USP28:NM_001346269:exon17:c.G1149A:p.S383S,USP28:NM_001346272:exon17:c.G1149A:p.S383S,USP28:NM_001346252:exon18:c.G2205A:p.S735S,USP28:NM_001346254:exon18:c.G2208A:p.S736S,USP28:NM_001346258:exon18:c.G2205A:p.S735S,USP28:NM_020886:exon18:c.G2205A:p.S735S,USP28:NM_001346255:exon19:c.G2196A:p.S732S,USP28:NM_001346265:exon19:c.G1149A:p.S383S,USP28:NM_001346271:exon19:c.G1149A:p.S383S,USP28:NM_001346270:exon20:c.G1149A:p.S383S RS2465647 Fasting blood glucose:Serum creatinine:Rheumatoid arthritis:Age-related macular degeneration
11 116633825 1 BUD13 C T exonic synonymous SNV BUD13:NM_001159736:exon4:c.G480A:p.P160P,BUD13:NM_032725:exon4:c.G480A:p.P160P RS918144 HDL cholesterol:Total cholesterol change with statins:Triglycerides change with statins:Triglycerides:LDL cholesterol:HDL cholesterol:Microalbuminuria
11 116692334 2 APOA4 C T exonic nonsynonymous SNV APOA4:NM_000482:exon3:c.G440A:p.S147N
11 116693464 2 APOA4 C T exonic synonymous SNV APOA4:NM_000482:exon2:c.G87A:p.T29T
11 116701535 1 APOC3 T C exonic synonymous SNV APOC3:NM_000040:exon3:c.T102C:p.G34G
11 116728630 1 SIK3 G C exonic nonsynonymous SNV SIK3:NM_001281749:exon20:c.C3227G:p.P1076R,SIK3:NM_025164:exon20:c.C3407G:p.P1136R,SIK3:NM_001281748:exon21:c.C2750G:p.P917R RS12225230 HDL cholesterol:LDL cholesterol:HDL cholesterol:APOA1 (apolipoprotein AI):HDL cholesterol lipoprotein fraction concentration by NMR in fasting sample:APOA1 assay lipoprotein fraction concentration:HDL cholesterol lipoprotein fraction concentration by NMR:APOA1 assay lipoprotein fraction concentration in fasting sample:HDL cholesterol:HDL cholesterol change with statins:Lp-PLA2 activity:Triglycerides:LDL cholesterol:Total cholesterol:HDL cholesterol:Height:Triglycerides:HDL cholesterol
11 116729161 1 SIK3 T C exonic nonsynonymous SNV SIK3:NM_001281749:exon20:c.A2696G:p.Y899C,SIK3:NM_025164:exon20:c.A2876G:p.Y959C,SIK3:NM_001281748:exon21:c.A2219G:p.Y740C
11 117097952 1 PCSK7 C T exonic synonymous SNV PCSK7:NM_004716:exon5:c.G690A:p.T230T RS2306473 Fasting blood glucose:Cystatin C in serum:LDL cholesterol:Total cholesterol:Triglycerides:Bipolar disorder:Triglycerides:Coronary artery disease (CAD):Mitral annular calcium
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 117252489 1 CEP164 T C exonic synonymous SNV CEP164:NM_001271933:exon12:c.T1491C:p.P497P,CEP164:NM_014956:exon13:c.T1482C:p.P494P
11 117261853 1 CEP164 C T exonic synonymous SNV CEP164:NM_001271933:exon16:c.C2214T:p.S738S,CEP164:NM_014956:exon17:c.C2205T:p.S735S RS494553 LDL cholesterol:Triglycerides:College completion
11 117267884 1 CEP164 A G exonic nonsynonymous SNV CEP164:NM_001271933:exon26:c.A3365G:p.Q1122R,CEP164:NM_014956:exon27:c.A3356G:p.Q1119R RS573455 Triglycerides:HDL cholesterol:Height:Diastolic blood pressure (DBP):Coronary artery disease (CAD)
11 117282800 2 CEP164 G T exonic synonymous SNV CEP164:NM_001271933:exon32:c.G4284T:p.S1428S,CEP164:NM_014956:exon33:c.G4299T:p.S1433S RS522885 Childhood acute lymphoblastic leukemia:Cystatin C in serum:Comorbid depressive syndrome and alcohol dependence
11 118074337 2 JAML A G exonic nonsynonymous SNV JAML:NM_001286570:exon5:c.T461C:p.V154A,JAML:NM_001286571:exon5:c.T461C:p.V154A,JAML:NM_153206:exon5:c.T548C:p.V183A,JAML:NM_001098526:exon6:c.T578C:p.V193A RS1793174 LDL cholesterol:Triglycerides:Triglycerides change with statins:Total cholesterol:LDL cholesterol:Gene expression of IL10RA in liver:Gene expression of AMICA1 in blood:Gene expression of MPZL2 in blood:Diastolic blood pressure (DBP):Variant Creutzfeldt-Jakob disease:Obesity with early age of onset (age >2)
11 118081345 1 JAML A T exonic nonsynonymous SNV JAML:NM_001286570:exon3:c.T164A:p.I55N,JAML:NM_001286571:exon3:c.T164A:p.I55N,JAML:NM_153206:exon3:c.T251A:p.I84N,JAML:NM_001098526:exon4:c.T281A:p.I94N RS17121881 Methylation levels at chr11:117640056-117640106 [hg18 coord, probe cg18399703] in Frontal cortex:Methylation levels at chr11:117640056-117640106 [hg18 coord, probe cg18399703] in Temporal cortex:Urinary albumin-to-creatinine ratio
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 118430519 1 IFT46 C T exonic nonsynonymous SNV IFT46:NM_001168618:exon3:c.G26A:p.C9Y,IFT46:NM_020153:exon3:c.G26A:p.C9Y RS11552421 LDL cholesterol:HDL cholesterol:Gene expression of TMEM25 in Lymphoblastoid cell lines:Gene expression of TMEM25 in Fibroblasts:Gene expression of TMEM25 in T cells:Gene expression of TMEM25 [probe ILMN_1263] in osteoblasts:Gene expression of C11orf60 [probe ILMN_1651745] in peripheral leukocytes:Autism without verbal ability:Total cholesterol:LDL cholesterol:Gene expression of TMEM25 in CD4+ lymphocytes:Gene expression of TMEM25 [probe ILMN_1263] in untreated osteoblasts:Gene expression of TMEM25 [probe ILMN_1263] in osteoblasts treated with BMP2:Gene expression of TMEM25 [probe ILMN_1263] in osteoblasts treated with PGE2:Gene expression of TMEM25 [probe ILMN_1263] in osteoblasts treated with dexamethasone:Gene expression of TMEM25 in liver:Gene expression of IFT46 in normal prepouch ileum:Gene expression of TMEM25 (probeID ILMN_1651745) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of TMEM25 (probeID ILMN_1651745) in cerebellum in Alzheimer's disease cases and controls:Gene expression of TMEM25 (probeID ILMN_1651745) in cerebellum in non-Alzheimer's disease samples:Gene expression of TMEM25 (probeID ILMN_1651745) in cerebellum in Alzheimer's disease cases
11 118471423 1 ARCN1 T C exonic synonymous SNV ARCN1:NM_001142281:exon9:c.T1266C:p.I422I,ARCN1:NM_001655:exon10:c.T1530C:p.I510I RS11216925 LDL cholesterol:Total cholesterol:LDL cholesterol:Rheumatoid arthritis:Autism without verbal ability:LDL cholesterol:Total cholesterol:Waist hip ratio:Advanced age-related macular degeneration (geographic atrophy):Gene expression of IFT46 in normal prepouch ileum
11 118769442 1 BCL9L A G exonic synonymous SNV BCL9L:NM_182557:exon8:c.T4182C:p.P1394P
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 119206375 1 RNF26 G A exonic synonymous SNV RNF26:NM_032015:exon1:c.G543A:p.T181T RS2511841 Rheumatoid arthritis:Triglycerides:Total cholesterol:LDL cholesterol:Plasma brain natriuretic peptide (BNP):Gene expression of ABCG4 [probe ILMN_10212] in osteoblasts treated with BMP2:Gene expression of NOD9 [probe ILMN_16473] in osteoblasts treated with PGE2:Gene expression of ABCG4 [probe ILMN_10212] in osteoblasts treated with bmp:Bipolar disorder:Variant Creutzfeldt-Jakob disease:Tetrology of fallot:Transmission distortion
11 120099658 2 OAF A G exonic nonsynonymous SNV OAF:NM_178507:exon4:c.A629G:p.H210R
11 120099679 2 OAF G A exonic nonsynonymous SNV OAF:NM_178507:exon4:c.G650A:p.R217H RS2508490 Partial epilepsy:Gene expression of OAF in blood
11 120328858 2 ARHGEF12 T C exonic synonymous SNV ARHGEF12:NM_001198665:exon24:c.T2238C:p.D746D,ARHGEF12:NM_001301084:exon25:c.T1986C:p.D662D,ARHGEF12:NM_015313:exon25:c.T2295C:p.D765D RS766894 Height:Waist hip ratio:PROP taste detection threshold
11 121367626 1 SORL1 T C exonic synonymous SNV SORL1:NM_003105:exon6:c.T807C:p.H269H RS12364988 Autism:LDL cholesterol:Total cholesterol:Comorbid depressive syndrome and alcohol dependence:Birth weight:Mitral annular calcium
11 121393684 1 SORL1 G A exonic nonsynonymous SNV SORL1:NM_003105:exon11:c.G1582A:p.A528T RS2298813 HDL cholesterol change with statins:LDL cholesterol:Total cholesterol:Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease
11 121403229 2 SORL1 T C exonic synonymous SNV SORL1:NM_003105:exon12:c.T1653C:p.A551A
11 121425955 1 SORL1 A T exonic synonymous SNV SORL1:NM_003105:exon18:c.A2499T:p.T833T
11 121456962 2 SORL1 C T exonic synonymous SNV SORL1:NM_003105:exon27:c.C3738T:p.N1246N RS1699102 LDL cholesterol:Alzheimer's disease:Autism with low IQ:Total cholesterol:LDL cholesterol:Triglycerides:College completion
11 121491782 2 SORL1 G A exonic nonsynonymous SNV SORL1:NM_003105:exon44:c.G5899A:p.V1967I
11 123597083 1 ZNF202 C T exonic synonymous SNV ZNF202:NM_001301819:exon6:c.G897A:p.V299V,ZNF202:NM_001301780:exon7:c.G1569A:p.V523V,ZNF202:NM_001301779:exon8:c.G1569A:p.V523V,ZNF202:NM_003455:exon9:c.G1569A:p.V523V
11 123600475 1 ZNF202 A G exonic nonsynonymous SNV ZNF202:NM_001301780:exon3:c.T461C:p.V154A,ZNF202:NM_001301779:exon4:c.T461C:p.V154A,ZNF202:NM_003455:exon5:c.T461C:p.V154A RS1144507 Triglycerides:LDL cholesterol change with statins:Total cholesterol change with statins:Height:Neuroblastoma (brain cancer):Serum soluble transferrin receptor, ferritin-index (log):Gene expression of OR10S1 [probe ILMN_21810] in osteoblasts treated with PGE2:Gene expression of OR10S1 [probe ILMN_21810] in osteoblasts treated with pge-2:Diastolic blood pressure (DBP):Infant head circumference:Primary rhegmatogenous retinal detachment
11 124524627 1 SIAE A G exonic synonymous SNV SIAE:NM_170601:exon4:c.T468C:p.S156S,SIAE:NM_001199922:exon6:c.T363C:p.S121S RS1942663 Gene expression of SPA17 in JPT lymphoblastoid cell lines
11 125465862 2 STT3A T C exonic synonymous SNV STT3A:NM_152713:exon2:c.T52C:p.L18L,STT3A:NM_001278503:exon3:c.T52C:p.L18L RS10082632 Fasting insulin:Comorbid depressive syndrome and alcohol dependence
11 125476252 2 STT3A C G exonic synonymous SNV STT3A:NM_001278504:exon7:c.C396G:p.L132L,STT3A:NM_152713:exon8:c.C672G:p.L224L,STT3A:NM_001278503:exon9:c.C672G:p.L224L
11 125479363 2 STT3A G A exonic synonymous SNV STT3A:NM_001278504:exon9:c.G720A:p.S240S,STT3A:NM_152713:exon10:c.G996A:p.S332S,STT3A:NM_001278503:exon11:c.G996A:p.S332S RS2241502 Triglycerides:LDL cholesterol:Gene expression of STT3A [transcript NM_152713, probe A_32_P27327] in liver
11 125484044 1 STT3A A G exonic synonymous SNV STT3A:NM_001278504:exon13:c.A1341G:p.T447T,STT3A:NM_152713:exon14:c.A1617G:p.T539T,STT3A:NM_001278503:exon15:c.A1617G:p.T539T RS12276729 Serum creatinine:HOMA-IR
11 125488404 2 STT3A C T exonic synonymous SNV STT3A:NM_001278504:exon15:c.C1635T:p.C545C,STT3A:NM_152713:exon16:c.C1911T:p.C637C,STT3A:NM_001278503:exon17:c.C1911T:p.C637C RS17140116 LDL cholesterol:Comorbid depressive syndrome and alcohol dependence
11 125495740 2 CHEK1 A G exonic nonsynonymous SNV CHEK1:NM_001330427:exon1:c.A85G:p.T29A
11 125495746 2 CHEK1 C G exonic nonsynonymous SNV CHEK1:NM_001330427:exon1:c.C91G:p.P31A
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 126162862 1 TIRAP C T exonic synonymous SNV TIRAP:NM_001318776:exon4:c.C558T:p.A186A,TIRAP:NM_001318777:exon4:c.C558T:p.A186A,TIRAP:NM_001039661:exon5:c.C558T:p.A186A,TIRAP:NM_148910:exon5:c.C558T:p.A186A RS7932766 LDL cholesterol:HDL cholesterol:Triglycerides change with statins:LDL cholesterol:Total cholesterol:Height:Coronary artery disease (CAD)
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 126201403 1 DCPS T C exonic synonymous SNV DCPS:NM_001350236:exon3:c.T501C:p.N167N,DCPS:NM_014026:exon3:c.T480C:p.N160N
11 129794950 2 PRDM10 T C exonic nonsynonymous SNV PRDM10:NM_199439:exon8:c.A1447G:p.T483A,PRDM10:NM_199438:exon9:c.A1459G:p.T487A,PRDM10:NM_199437:exon12:c.A1705G:p.T569A,PRDM10:NM_020228:exon13:c.A1717G:p.T573A RS2241571 Triglycerides:Triglycerides:High myopia:Non-Hodgkin lymphoma (Diffuse large B-cell lymphoma):Gene expression of TMEM45B in blood:Comorbid depressive syndrome and alcohol dependence:Paternal transmission distortion:Transmission distortion
11 129801043 2 PRDM10 C T exonic synonymous SNV PRDM10:NM_199438:exon7:c.G1140A:p.Q380Q,PRDM10:NM_199439:exon7:c.G1140A:p.Q380Q,PRDM10:NM_020228:exon11:c.G1398A:p.Q466Q,PRDM10:NM_199437:exon11:c.G1398A:p.Q466Q RS2277033 Triglycerides
11 130420006 2
11 134062645 1 NCAPD3 C G exonic nonsynonymous SNV NCAPD3:NM_015261:exon16:c.G1984C:p.D662H
11 153039502 2
11 153278829 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 662838 1 B4GALNT3 T C exonic synonymous SNV B4GALNT3:NM_173593:exon14:c.T1749C:p.P583P
12 862989 2 WNK1 T C exonic synonymous SNV WNK1:NM_001184985:exon1:c.T258C:p.C86C,WNK1:NM_014823:exon1:c.T258C:p.C86C,WNK1:NM_018979:exon1:c.T258C:p.C86C,WNK1:NM_213655:exon1:c.T258C:p.C86C
12 939302 2 WNK1 A G exonic synonymous SNV WNK1:NM_001184985:exon4:c.A1287G:p.A429A,WNK1:NM_014823:exon4:c.A1287G:p.A429A,WNK1:NM_018979:exon4:c.A1287G:p.A429A,WNK1:NM_213655:exon4:c.A1287G:p.A429A RS10774466 Gene expression of RAD52 [probe 210630_s_at] in lymphoblastoid cell lines:Childhood acute lymphoblastic leukemia:Gene expression of FKBP9L in peripheral blood monocytes:Advanced age-related macular degeneration:Years of education:Advanced age-related macular degeneration (geographic atrophy)
12 987482 1 WNK1 G A exonic synonymous SNV WNK1:NM_014823:exon10:c.G2325A:p.Q775Q,WNK1:NM_018979:exon10:c.G2328A:p.Q776Q,WNK1:NM_001184985:exon11:c.G3567A:p.Q1189Q,WNK1:NM_213655:exon12:c.G3822A:p.Q1274Q RS1012729 Gene expression of RAD52 [probe 210630_s_at] in lymphoblastoid cell lines:Abnormal Involuntary Movement Scale:Lp-PLA2 mass:Gene expression of SERP1 in peripheral blood monocytes:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
12 990912 2 WNK1 A C exonic nonsynonymous SNV WNK1:NM_014823:exon11:c.A2425C:p.T809P,WNK1:NM_001184985:exon13:c.A3946C:p.T1316P,WNK1:NM_018979:exon13:c.A3166C:p.T1056P,WNK1:NM_213655:exon13:c.A3922C:p.T1308P RS956868 LDL cholesterol:Total cholesterol:Lp-PLA2 mass
12 993930 1 WNK1 C T exonic synonymous SNV WNK1:NM_014823:exon17:c.C3219T:p.N1073N,WNK1:NM_001184985:exon19:c.C4740T:p.N1580N,WNK1:NM_018979:exon19:c.C3960T:p.N1320N,WNK1:NM_213655:exon19:c.C4716T:p.N1572N RS7300444 Gene expression of RAD52 [probe 210630_s_at] in lymphoblastoid cell lines:Body mass index (BMI):Birth weight
12 994487 2 WNK1 G C exonic nonsynonymous SNV WNK1:NM_014823:exon17:c.G3776C:p.C1259S,WNK1:NM_001184985:exon19:c.G5297C:p.C1766S,WNK1:NM_018979:exon19:c.G4517C:p.C1506S,WNK1:NM_213655:exon19:c.G5273C:p.C1758S RS7955371 Triglycerides
12 2064666 1 DCP1B T C exonic nonsynonymous SNV DCP1B:NM_152640:exon6:c.A583G:p.N195D
12 2968169 1 FOXM1 A G exonic nonsynonymous SNV FOXM1:NM_001243088:exon8:c.T1882C:p.S628P,FOXM1:NM_001243089:exon8:c.T1879C:p.S627P,FOXM1:NM_202003:exon8:c.T1882C:p.S628P,FOXM1:NM_021953:exon9:c.T1927C:p.S643P,FOXM1:NM_202002:exon10:c.T2041C:p.S681P RS3742076 Chronic kidney disease:Waist hip ratio
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 3387697 1 TSPAN9 T C exonic synonymous SNV TSPAN9:NM_001168320:exon3:c.T174C:p.I58I,TSPAN9:NM_006675:exon4:c.T174C:p.I58I RS16930370 Serum creatinine:Parkinson's disease:Adiponectin levels
12 3389601 1 TSPAN9 C T exonic synonymous SNV TSPAN9:NM_001168320:exon5:c.C384T:p.T128T,TSPAN9:NM_006675:exon6:c.C384T:p.T128T
12 4722717 1 DYRK4 A T exonic nonsynonymous SNV DYRK4:NM_001282285:exon5:c.A503T:p.D168V,DYRK4:NM_001282286:exon5:c.A500T:p.D167V,DYRK4:NM_003845:exon13:c.A1361T:p.D454V RS1801016 Abnormal Involuntary Movement Scale:Barnes Akathisia Rating Scale
12 6427052 1 PLEKHG6 C T exonic synonymous SNV PLEKHG6:NM_001144857:exon9:c.C951T:p.H317H,PLEKHG6:NM_001144856:exon10:c.C1047T:p.H349H,PLEKHG6:NM_018173:exon10:c.C1047T:p.H349H RS1468603 LDL cholesterol change with statins:Triglycerides:Comorbid depressive syndrome and alcohol dependence
12 6457062 1 SCNN1A T C exonic nonsynonymous SNV SCNN1A:NM_001159576:exon12:c.A2164G:p.T722A,SCNN1A:NM_001038:exon13:c.A1987G:p.T663A,SCNN1A:NM_001159575:exon13:c.A2056G:p.T686A RS2228576 HDL cholesterol:Asthma:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Cognitive response to topiramate treatment as measured by the ChangePC1 (overall cognition) cognitive test:Cognitive response of healthy volunteers to topiramate treatment as measure by the Delayed Story Recall cognitive test:Cognitive response of healthy volunteers to topiramate treatment as measure by the Immediate Story Recall cognitive test:Cognitive response of healthy volunteers to topiramate treatment as measure by the TrailsB cognitive test:Adiponectin levels:Paternal transmission distortion
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 6631169 1 NCAPD2 C A exonic synonymous SNV NCAPD2:NM_014865:exon15:c.C1920A:p.I640I RS917634 Gene expression of TAPBPL [probe 218747_s_at] in lymphoblastoid cell lines:Gene expression of VAMP1 [probe 213326_at] in lymphoblastoid cell lines:Gene expression of TAPBPL [probe 218746_at] in lymphoblastoid cell lines:Gene expression of VAMP1 in lymphoblastoid cell lines:Gene expression of TAPBPL in lymphoblastoid cell lines:Hip bone mineral density (BMD):Gene expression of CND1_HUMAN in blood cells in Celiac disease:Total cholesterol:Gene expression of CNAP1 in Cerebellum:Gene expression of CNAP1 in Temporal cortex:Gene expression of MRPL51 in peripheral blood monocytes:Gene expression of VAMP1 in peripheral blood monocytes:Gene expression of NCAPD2 in peripheral blood monocytes:Gene expression of TAPBPL in peripheral blood monocytes:Total cholesterol:LDL cholesterol:Gene expression of NCAPD2 in CD4+ lymphocytes:Gene expression of CNAP1 [probe ILMN_26621] in untreated osteoblasts:Gene expression of MRPL51 in blood:Gene expression of NCAPD2 in blood:Gene expression of TAPBPL///VAMP1 in blood:Gene expression of GAPDH in blood:Gene expression of NCAPD2 (probeID ILMN_1775008) in cerebellum in Alzheimer's disease cases:Gene expression of NCAPD2 (probeID ILMN_1775008) in cerebellum in non-Alzheimer's disease samples:Gene expression of NCAPD2 (probeID ILMN_1775008) in cerebellum in Alzheimer's disease cases and controls:Gene expression of NCAPD2 (probeID ILMN_1775008) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of TAPBPL in normal prepouch ileum:Gene expression of VAMP1 in normal prepouch ileum:Gene expression of NCAPD2 (probeID ILMN_1775008) in temporal cortex in Alzheimer's disease cases:Gene expression of TAPBPL (probeID ILMN_1805449) in temporal cortex in Alzheimer's disease cases and controls:Glioma:Gene expression of NCAPD2 (probeID ILMN_1775008) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of TAPBPL (probeID ILMN_1805449) in cerebellum in Alzheimer's disease cases and controls:Gene expression of NCAPD2 (probeID ILMN_1775008) in temporal cortex in Alzheimer's disease cases and controls
12 6639088 1 NCAPD2 A G exonic synonymous SNV NCAPD2:NM_014865:exon29:c.A3801G:p.V1267V RS1043262 Gene expression of LPAR5 in peripheral blood monocytes:Gene expression of NCAPD2 in peripheral blood monocytes:Gene expression of TAPBPL in peripheral blood monocytes:Gene expression of VAMP1 in peripheral blood monocytes:Triglycerides:HDL cholesterol:Prostate cancer
12 6646320 1 GAPDH T C exonic synonymous SNV GAPDH:NM_001256799:exon5:c.T255C:p.D85D,GAPDH:NM_001289746:exon5:c.T381C:p.D127D,GAPDH:NM_001289745:exon6:c.T381C:p.D127D,GAPDH:NM_002046:exon6:c.T381C:p.D127D
12 6647109 1 GAPDH T C exonic synonymous SNV GAPDH:NM_001256799:exon7:c.T759C:p.F253F,GAPDH:NM_001289746:exon7:c.T885C:p.F295F,GAPDH:NM_001289745:exon8:c.T885C:p.F295F,GAPDH:NM_002046:exon8:c.T885C:p.F295F RS1803621 Methylation levels at chr12:6474451-6474501 [hg18 coord, probe cg10383428] in Cerebellum
12 6939850 1 P3H3 A G exonic unknown UNKNOWN RS10744716 HIV-1 set point:Gene expression of GNB3 in normal prepouch ileum
12 6940492 1 P3H3 G A exonic unknown UNKNOWN
12 6954864 1 GNB3 G A exonic nonsynonymous SNV GNB3:NM_001297571:exon9:c.G811A:p.G271S,GNB3:NM_002075:exon9:c.G814A:p.G272S RS5442 Myopia:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Salmonella-induced pyroptosis:Advanced age-related macular degeneration
12 7065635 1 PTPN6 T C exonic synonymous SNV PTPN6:NM_002831:exon9:c.T978C:p.G326G,PTPN6:NM_080548:exon9:c.T984C:p.G328G,PTPN6:NM_080549:exon9:c.T978C:p.G326G
12 7090193 1 LPCAT3 A G exonic nonsynonymous SNV LPCAT3:NM_005768:exon6:c.T650C:p.I217T RS1984564 Differential exon level expression of MBOAT5 [probe 3442446] in peripheral blood mononuclear cells:HOMA-B:HDL cholesterol change with statins:Triglycerides change with statins:Gene expression of EMG1///LPCAT3 in blood:Gene expression of ATN1 in normal prepouch ileum
12 7091918 1 LPCAT3 C T exonic synonymous SNV LPCAT3:NM_005768:exon3:c.G285A:p.L95L RS3764031 HOMA-B:Fasting insulin:HDL cholesterol change with statins:Triglycerides change with statins:Gene expression of ATN1 in normal prepouch ileum
12 7170336 1 C1S G A exonic nonsynonymous SNV C1S:NM_001734:exon4:c.G356A:p.R119H,C1S:NM_201442:exon4:c.G356A:p.R119H RS12146727 Body mass index (BMI):Myocardial infarction (MI), sudden cardiac arrest in patients with coronary artery disease (CAD):College completion:Advanced age-related macular degeneration:Coronary artery disease (CAD):Birth weight:Advanced age-related macular degeneration (geographic atrophy):Years of education
12 7945576 2 NANOG T C exonic nonsynonymous SNV NANOG:NM_001297698:exon2:c.T182C:p.L61P,NANOG:NM_024865:exon2:c.T182C:p.L61P
12 7945591 2 NANOG C A exonic nonsynonymous SNV NANOG:NM_001297698:exon2:c.C197A:p.P66H,NANOG:NM_024865:exon2:c.C197A:p.P66H
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 9086553 1 PHC1 G A exonic synonymous SNV PHC1:NM_004426:exon9:c.G1986A:p.K662K
12 9086898 1 PHC1 A G exonic nonsynonymous SNV PHC1:NM_004426:exon10:c.A2077G:p.T693A RS1049925 Triglycerides:Simpson-Angus Scale:Gene expression of KLRG1 (probeID ILMN_2124920) in cerebellum in Alzheimer's disease cases and controls:Birth weight:Gene expression of KLRG1 (probeID ILMN_2124920) in temporal cortex in Alzheimer's disease cases and controls
12 9090528 1 PHC1 G A exonic nonsynonymous SNV PHC1:NM_004426:exon14:c.G2732A:p.R911H
12 9248233 2 A2M T C exonic nonsynonymous SNV A2M:NM_001347425:exon15:c.A1465G:p.N489D,A2M:NM_000014:exon16:c.A1915G:p.N639D,A2M:NM_001347424:exon16:c.A1615G:p.N539D,A2M:NM_001347423:exon17:c.A1915G:p.N639D
12 10999708 1 PRR4 T C exonic nonsynonymous SNV PRR4:NM_001098538:exon3:c.A127G:p.R43G,PRR4:NM_007244:exon3:c.A359G:p.Q120R RS1047699 Rheumatoid arthritis:Gene expression of PRH1 in normal prepouch ileum:Gene expression of PRH1 (probeID ILMN_2210534) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of PRH1 (probeID ILMN_2210534) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PRR4 in normal prepouch ileum:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of PRH1 (probeID ILMN_2210534) in cerebellum in Alzheimer's disease cases:Gene expression of PRH1 (probeID ILMN_2210534) in temporal cortex in Alzheimer's disease cases:Gene expression of PRH1 (probeID ILMN_2210534) in cerebellum in non-Alzheimer's disease samples:Gene expression of TAS2R13 in normal prepouch ileum:Gene expression of TAS2R50 in normal prepouch ileum:Gene expression of TAS2R43 in normal prepouch ileum:Gene expression of PRH1 (probeID ILMN_2210534) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of TAS2R31 in normal prepouch ileum
12 10999780 1 PRR4 C T exonic nonsynonymous SNV PRR4:NM_007244:exon3:c.G287A:p.R96Q RS1063193 Gene expression of PROL4 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Methylation levels at chr12:11354646-11354696 [hg18 coord, probe cg14076161] in Temporal cortex:Methylation levels at chr12:11399184-11399234 [hg18 coord, probe cg04520391] in Temporal cortex:Methylation levels at chr12:11400800-11400850 [hg18 coord, probe cg27345534] in Temporal cortex:PROP taste detection threshold:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of TAS2R46 in normal prepouch ileum:Gene expression of TAS2R14 in normal prepouch ileum:Gene expression of PRB4 in normal prepouch ileum:Gene expression of TAS2R14 (probeID ILMN_1801349) in cerebellum in Alzheimer's disease cases and controls:Gene expression of TAS2R19 in normal prepouch ileum:Gene expression of TAS2R14 (probeID ILMN_1801349) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TAS2R10 in normal prepouch ileum:Gene expression of TAS2R50 in normal prepouch ileum:Gene expression of TAS2R31 in normal prepouch ileum:Gene expression of TAS2R20 in normal prepouch ileum:Gene expression of PRR4 in normal prepouch ileum:Gene expression of PRH1 in normal prepouch ileum:Gene expression of TAS2R9 in normal prepouch ileum:Advanced age-related macular degeneration:Gene expression of TAS2R13 in normal prepouch ileum
12 11323994 1 SMIM10L1 G A exonic synonymous SNV SMIM10L1:NM_001271592:exon1:c.G39A:p.R13R
12 12284915 1 LRP6 G A exonic synonymous SNV LRP6:NM_002336:exon18:c.C3810T:p.C1270C RS1012672 Lung function, predicted ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):Premature ovarian failure
12 12483275 2 MANSC1 G A exonic synonymous SNV MANSC1:NM_018050:exon4:c.C982T:p.L328L RS1861676 PROP taste detection threshold
12 12483713 2 MANSC1 A G exonic synonymous SNV MANSC1:NM_018050:exon4:c.T544C:p.L182L RS4763282 LDL cholesterol:Serum creatinine:PROP taste detection threshold
12 12814818 2 GPR19 C T exonic nonsynonymous SNV GPR19:NM_006143:exon4:c.G565A:p.V189I RS4763862 Breast cancer:Refractive error
12 14982352 1 ART4 G C exonic nonsynonymous SNV ART4:NM_021071:exon3:c.C898G:p.L300V RS3088190 2 hour glucose:Triglycerides change with statins:Cystatin C in serum:Gene expression of ERP27 in peripheral blood monocytes:Parkinson's disease
12 14993439 1 ART4 C T exonic nonsynonymous SNV ART4:NM_021071:exon2:c.G793A:p.D265N RS11276 LDL cholesterol:Urinary albumin-to-creatinine ratio:Gene expression of ERP27 in blood:Gene expression of MGP in blood:Breast cancer:Parkinson's disease:Tetrology of fallot
12 14993608 1 ART4 G A exonic synonymous SNV ART4:NM_021071:exon2:c.C624T:p.L208L RS3088189 LDL cholesterol:Urinary albumin-to-creatinine ratio:Parkinson's disease
12 14993854 1 ART4 A G exonic synonymous SNV ART4:NM_021071:exon2:c.T378C:p.Y126Y RS1861698 LDL cholesterol:Urinary albumin-to-creatinine ratio:Gene expression of ERP27 in blood:Gene expression of MGP in blood:Tetrology of fallot:Parkinson's disease
12 16035712 1 STRAP G A exonic nonsynonymous SNV STRAP:NM_007178:exon1:c.G71A:p.G24D
12 22602796 2 C2CD5 A G exonic synonymous SNV C2CD5:NM_014802:exon25:c.T2901C:p.D967D,C2CD5:NM_001286174:exon26:c.T3054C:p.D1018D,C2CD5:NM_001286176:exon27:c.T3054C:p.D1018D,C2CD5:NM_001286177:exon27:c.T3027C:p.D1009D,C2CD5:NM_001286173:exon28:c.T3060C:p.D1020D,C2CD5:NM_001286175:exon28:c.T3063C:p.D1021D
12 26733062 1 ITPR2 T C exonic synonymous SNV ITPR2:NM_002223:exon33:c.A4407G:p.K1469K RS2230375 Diastolic blood pressure (DBP):Sporadic Creutzfeldt-Jakob disease:Refractive error
12 26806955 1 ITPR2 G A exonic synonymous SNV ITPR2:NM_002223:exon21:c.C2694T:p.A898A RS2230380 Total cholesterol:Body mass index (BMI):Refractive error:Birth weight
12 26809412 1 ITPR2 T G exonic synonymous SNV ITPR2:NM_002223:exon19:c.A2262C:p.T754T RS2230378 Fasting blood glucose:Birth weight
12 27064232 1 INTS13 C T exonic synonymous SNV INTS13:NM_018164:exon15:c.G1824A:p.E608E RS3210635 HDL cholesterol:Schizophrenia:Differential exon level expression of C12orf11 [probe 3448439] in peripheral blood mononuclear cells:Differential exon level expression of C12orf11 [probe 3448439] in brain cortex:Fasting insulin:HOMA-IR:HDL cholesterol change with statins:HDL cholesterol:Height:Adiponectin levels:Gene expression of ITPR2 (ENSG00000123104) in dendritic cells treated with Mycobacterium tuberculosis:Hypertension (early onset hypertension):Advanced age-related macular degeneration (geographic atrophy)
12 27143508 1 TM7SF3 G A exonic nonsynonymous SNV TM7SF3:NM_016551:exon6:c.C743T:p.P248L RS10771314 Schizophrenia:Lp-PLA2 mass:Endometriosis:Autism:Endometriosis:Microalbuminuria:Bipolar disorder
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 30823971 1 IPO8 A G exonic synonymous SNV IPO8:NM_001190995:exon5:c.T354C:p.L118L,IPO8:NM_006390:exon9:c.T969C:p.L323L RS1054426 LDL cholesterol:Total cholesterol:Chronic kidney disease:Serum creatinine:LDL cholesterol:Total cholesterol:Systolic blood pressure (SBP):Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of IPO8 (probeID ILMN_1753164) in cerebellum in Alzheimer's disease cases and controls:Gene expression of IPO8 (probeID ILMN_1753164) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (geographic atrophy)
12 30868002 1 CAPRIN2 C T exonic synonymous SNV CAPRIN2:NM_001206856:exon14:c.G2373A:p.V791V,CAPRIN2:NM_001319842:exon14:c.G1539A:p.V513V,CAPRIN2:NM_023925:exon14:c.G2391A:p.V797V,CAPRIN2:NM_001002259:exon15:c.G2541A:p.V847V,CAPRIN2:NM_001319843:exon15:c.G2538A:p.V846V,CAPRIN2:NM_001319844:exon15:c.G2193A:p.V731V,CAPRIN2:NM_032156:exon15:c.G2538A:p.V846V,CAPRIN2:NM_001319845:exon16:c.G2298A:p.V766V,CAPRIN2:NM_001319846:exon16:c.G2298A:p.V766V RS13656 LDL cholesterol:Chronic kidney disease:Advanced age-related macular degeneration:Gene expression of IPO8 (probeID ILMN_1753164) in cerebellum in Alzheimer's disease cases and controls:Gene expression of IPO8 (probeID ILMN_1753164) 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
12 30881809 1 CAPRIN2 T C exonic nonsynonymous SNV CAPRIN2:NM_001319842:exon7:c.A556G:p.M186V,CAPRIN2:NM_001002259:exon8:c.A1555G:p.M519V,CAPRIN2:NM_001206856:exon8:c.A1555G:p.M519V,CAPRIN2:NM_001319843:exon8:c.A1555G:p.M519V,CAPRIN2:NM_023925:exon8:c.A1555G:p.M519V,CAPRIN2:NM_032156:exon8:c.A1555G:p.M519V,CAPRIN2:NM_001319844:exon9:c.A1312G:p.M438V,CAPRIN2:NM_001319845:exon9:c.A1312G:p.M438V,CAPRIN2:NM_001319846:exon9:c.A1312G:p.M438V RS2304630 LDL cholesterol:Gene expression of IPO8 in blood cells in Celiac disease:Differential exon level expression of IPO8 [probe 3449350] in brain cortex:Gene expression of IPO8 [probe ILMN_15237] in osteoblasts:Chronic kidney disease:Gene expression of IPO8 in CD4+ lymphocytes:Gene expression of CAPRIN2 in blood:Gene expression of IPO8 in liver:Gene expression of IPO8 (probeID ILMN_1753164) in cerebellum in Alzheimer's disease cases:Gene expression of IPO8 (probeID ILMN_1753164) in temporal cortex in Progressive Supranuclear Palsy cases:Advanced age-related macular degeneration (geographic atrophy):Gene expression of IPO8 (probeID ILMN_1753164) in cerebellum in non-Alzheimer's disease samples:Gene expression of IPO8 (probeID ILMN_1753164) in cerebellum in Progressive Supranuclear Palsy cases:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Gene expression of IPO8 (probeID ILMN_1753164) in cerebellum in Alzheimer's disease cases and controls:Gene expression of IPO8 (probeID ILMN_1753164) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of IPO8 (probeID ILMN_1753164) in temporal cortex in Alzheimer's disease cases
12 30888001 1 CAPRIN2 T C exonic nonsynonymous SNV CAPRIN2:NM_001002259:exon4:c.A710G:p.K237R,CAPRIN2:NM_001206856:exon4:c.A710G:p.K237R,CAPRIN2:NM_001319843:exon4:c.A710G:p.K237R,CAPRIN2:NM_023925:exon4:c.A710G:p.K237R,CAPRIN2:NM_032156:exon4:c.A710G:p.K237R,CAPRIN2:NM_001319844:exon5:c.A467G:p.K156R,CAPRIN2:NM_001319845:exon5:c.A467G:p.K156R,CAPRIN2:NM_001319846:exon5:c.A467G:p.K156R RS12146709 Gene expression of IPO8 in blood cells in Celiac disease:Simpson-Angus Scale:Chronic kidney disease:Lp-PLA2 mass:Gene expression of IPO8 in CD4+ lymphocytes:Waist hip ratio:Neuroblastoma (brain cancer):Gene expression of IPO8 (probeID ILMN_1753164) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of IPO8 (probeID ILMN_1753164) in cerebellum in Alzheimer's disease cases and controls:Endometriosis:Gene expression of IPO8 (probeID ILMN_1753164) in cerebellum in non-Alzheimer's disease samples:Gene expression of IPO8 (probeID ILMN_1753164) in temporal cortex in Alzheimer's disease cases:Advanced age-related macular degeneration (geographic atrophy):Gene expression of IPO8 (probeID ILMN_1753164) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of IPO8 (probeID ILMN_1753164) in cerebellum in Alzheimer's disease cases:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
12 31255392 1 DDX11 G A exonic nonsynonymous SNV DDX11:NM_004399:exon22:c.G2153A:p.G718E,DDX11:NM_001257144:exon23:c.G2303A:p.G768E,DDX11:NM_001257145:exon23:c.G2225A:p.G742E,DDX11:NM_030653:exon23:c.G2303A:p.G768E,DDX11:NM_152438:exon23:c.G2303A:p.G768E
12 31256615 1 DDX11 C A exonic nonsynonymous SNV DDX11:NM_004399:exon25:c.C2491A:p.R831S,DDX11:NM_001257144:exon26:c.C2636A:p.P879Q,DDX11:NM_001257145:exon26:c.C2563A:p.R855S,DDX11:NM_030653:exon26:c.C2641A:p.R881S,DDX11:NM_152438:exon26:c.C2636A:p.P879Q
12 32134943 2 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 32135938 2 KIAA1551 A G exonic synonymous SNV KIAA1551:NM_018169:exon4:c.A2049G:p.Q683Q RS11051718 2 hour glucose:HOMA-B:Obesity with early age of onset (age >2)
12 32735236 2 FGD4 C T exonic synonymous SNV FGD4:NM_001330373:exon3:c.C156T:p.D52D,FGD4:NM_001330374:exon3:c.C156T:p.D52D,FGD4:NM_001304480:exon4:c.C771T:p.D257D,FGD4:NM_001304481:exon4:c.C690T:p.D230D,FGD4:NM_139241:exon4:c.C435T:p.D145D RS904582 Cystatin C in serum:Height:College completion:Refractive error:Years of education
12 33021934 1 PKP2 A G exonic nonsynonymous SNV PKP2:NM_001005242:exon4:c.T1097C:p.L366P,PKP2:NM_004572:exon4:c.T1097C:p.L366P RS1046116 Rheumatoid arthritis:Adiponectin levels:Tetrology of fallot:Obesity with early age of onset (age >2)
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 42481732 2 GXYLT1 G A exonic synonymous SNV GXYLT1:NM_001099650:exon7:c.C1086T:p.D362D,GXYLT1:NM_173601:exon8:c.C1179T:p.D393D RS7972986 Gene expression of TMEM205 in peripheral blood monocytes:Urinary albumin-to-creatinine ratio:Aortic valve calcium:Breast cancer
12 42839836 2 PPHLN1 A C exonic nonsynonymous SNV PPHLN1:NM_001143787:exon11:c.A1022C:p.Q341P
12 46322449 1 SCAF11 C T exonic synonymous SNV SCAF11:NM_004719:exon11:c.G1035A:p.G345G RS10880868 Serum creatinine:Cystatin C in serum:Rheumatoid arthritis:Height:Parkinson's disease:Mitral annular calcium:Salmonella-induced pyroptosis:Infant head circumference
12 48736985 1 ZNF641 T G exonic nonsynonymous SNV ZNF641:NM_001172682:exon5:c.A1019C:p.Q340P,ZNF641:NM_001172681:exon6:c.A1046C:p.Q349P,ZNF641:NM_152320:exon7:c.A1088C:p.Q363P RS2732481 HDL cholesterol:Simpson-Angus Scale:Serum creatinine:Chronic kidney disease:HDL cholesterol:Gene expression of ZNF641 in blood:Gene expression of ASB8 in blood:Years of education:College completion
12 48737245 1 ZNF641 A C exonic synonymous SNV ZNF641:NM_001172682:exon5:c.T759G:p.G253G,ZNF641:NM_001172681:exon6:c.T786G:p.G262G,ZNF641:NM_152320:exon7:c.T828G:p.G276G RS2732484 HDL cholesterol:Chronic kidney disease:Serum creatinine:HDL cholesterol:Years of education:College completion
12 49177113 2 ADCY6 T G exonic synonymous SNV ADCY6:NM_015270:exon2:c.A105C:p.A35A
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 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 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 51636259 2 DAZAP2 C T exonic synonymous SNV DAZAP2:NM_001136266:exon4:c.C447T:p.L149L
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 53452874 1 TNS2 T C exonic synonymous SNV TNS2:NM_015319:exon18:c.T1479C:p.Y493Y,TNS2:NM_170754:exon18:c.T1449C:p.Y483Y,TNS2:NM_198316:exon18:c.T1077C:p.Y359Y
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 54109659 2 CALCOCO1 C T exonic nonsynonymous SNV CALCOCO1:NM_001143682:exon8:c.G923A:p.R308K,CALCOCO1:NM_020898:exon9:c.G1178A:p.R393K RS3741659 Eye color:Barnes Akathisia Rating Scale:Comorbid depressive syndrome and alcohol dependence
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 56737251 1 STAT2 C A exonic nonsynonymous SNV STAT2:NM_005419:exon24:c.G2478T:p.Q826H,STAT2:NM_198332:exon24:c.G2466T:p.Q822H
12 56815922 2 TIMELESS C T exonic nonsynonymous SNV TIMELESS:NM_001330295:exon20:c.G2489A:p.R830Q,TIMELESS:NM_003920:exon20:c.G2492A:p.R831Q RS774047 Differential splicing of TIMELESS [probeset 3457837] in lymphoblastoid cell lines:Childhood acute lymphoblastic leukemia:Total cholesterol change with statins:Gene expression of RBMS2 in peripheral blood monocytes:College completion:Years of education:Amyotrophic lateral sclerosis (ALS) age of onset:Advanced age-related macular degeneration (geographic atrophy)
12 56822378 2 TIMELESS T A exonic nonsynonymous SNV TIMELESS:NM_001330295:exon12:c.A1360T:p.I454L,TIMELESS:NM_003920:exon12:c.A1363T:p.I455L RS774027 Differential splicing of TIMELESS [probeset 3457837] in lymphoblastoid cell lines:Total cholesterol change with statins:Years of education:Advanced age-related macular degeneration (geographic atrophy)
12 56825311 2 TIMELESS C T exonic synonymous SNV TIMELESS:NM_001330295:exon8:c.G762A:p.V254V,TIMELESS:NM_003920:exon8:c.G765A:p.V255V RS774033 Differential splicing of TIMELESS [probeset 3457837] in lymphoblastoid cell lines:Total cholesterol change with statins:Gene expression of RBMS2 in peripheral blood monocytes:Advanced age-related macular degeneration (geographic atrophy):Amyotrophic lateral sclerosis (ALS) age of onset:Years of education
12 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 57108203 1 NACA A G exonic synonymous SNV NACA:NM_001113201:exon4:c.T177C:p.I59I,NACA:NM_001113202:exon4:c.T177C:p.I59I,NACA:NM_001320193:exon4:c.T177C:p.I59I,NACA:NM_001320194:exon4:c.T177C:p.I59I,NACA:NM_005594:exon4:c.T177C:p.I59I,NACA:NM_001113203:exon7:c.T2307C:p.I769I
12 57127957 1 PRIM1 C T exonic nonsynonymous SNV PRIM1:NM_000946:exon12:c.G1217A:p.R406Q
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 57649840 1 R3HDM2 C T exonic synonymous SNV R3HDM2:NM_001351217:exon21:c.G2469A:p.K823K,R3HDM2:NM_001351213:exon22:c.G2571A:p.K857K,R3HDM2:NM_001351214:exon22:c.G2571A:p.K857K,R3HDM2:NM_001351215:exon22:c.G2571A:p.K857K,R3HDM2:NM_001351216:exon22:c.G2559A:p.K853K,R3HDM2:NM_001351218:exon22:c.G2469A:p.K823K,R3HDM2:NM_001330122:exon23:c.G2625A:p.K875K,R3HDM2:NM_001330123:exon23:c.G2493A:p.K831K,R3HDM2:NM_001351208:exon23:c.G2667A:p.K889K,R3HDM2:NM_001351209:exon23:c.G2619A:p.K873K,R3HDM2:NM_001351212:exon23:c.G2571A:p.K857K,R3HDM2:NM_014925:exon23:c.G2523A:p.K841K,R3HDM2:NM_001330121:exon24:c.G2625A:p.K875K,R3HDM2:NM_001351205:exon24:c.G2721A:p.K907K,R3HDM2:NM_001351206:exon24:c.G2721A:p.K907K,R3HDM2:NM_001351211:exon24:c.G2589A:p.K863K,R3HDM2:NM_001351204:exon25:c.G2721A:p.K907K,R3HDM2:NM_001351207:exon26:c.G2691A:p.K897K RS4075325 2 hour glucose:Fasting blood glucose:Serum creatinine:Methylation levels at chr12:55931375-55931425 [hg18 coord, probe cg14747072] in Frontal cortex:Methylation levels at chr12:55921029-55921079 [hg18 coord, probe cg21878918] in Temporal cortex:Methylation levels at chr12:55921029-55921079 [hg18 coord, probe cg21878918] in Caudal pons:Methylation levels at chr12:55921029-55921079 [hg18 coord, probe cg21878918] in Frontal cortex:Methylation levels at chr12:55931375-55931425 [hg18 coord, probe cg14747072] in Temporal cortex:Methylation levels at chr12:55931375-55931425 [hg18 coord, probe cg14747072] in Caudal pons:Triglycerides:Total cholesterol:LDL cholesterol:Microalbuminuria:Comorbid depressive syndrome and alcohol dependence
12 57994743 2 PIP4K2C T G exonic synonymous SNV PIP4K2C:NM_001146260:exon7:c.T819G:p.L273L,PIP4K2C:NM_001146258:exon8:c.T963G:p.L321L,PIP4K2C:NM_001146259:exon8:c.T909G:p.L303L,PIP4K2C:NM_024779:exon8:c.T963G:p.L321L
12 57995089 2 PIP4K2C T C exonic synonymous SNV PIP4K2C:NM_001146260:exon8:c.T999C:p.A333A,PIP4K2C:NM_001146258:exon9:c.T1143C:p.A381A,PIP4K2C:NM_001146259:exon9:c.T1089C:p.A363A,PIP4K2C:NM_024779:exon9:c.T1143C:p.A381A
12 58010163 1 ARHGEF25 A G exonic nonsynonymous SNV ARHGEF25:NM_001347933:exon13:c.A1427G:p.Q476R,ARHGEF25:NM_182947:exon14:c.A1517G:p.Q506R,ARHGEF25:NM_001111270:exon15:c.A1634G:p.Q545R RS1564374 Irritible bowel syndrome:Tardive dyskinesia:Abnormal Involuntary Movement Scale:Fasting blood glucose:Gene expression of FAM119B in peripheral blood monocytes:Gene expression of TSFM in peripheral blood monocytes:Gene expression of TSPAN31 in peripheral blood monocytes:Gene expression of XRCC6BP1 in peripheral blood monocytes:Height:Waist hip ratio
12 58019472 2 SLC26A10 T G exonic nonsynonymous SNV SLC26A10:NM_133489:exon14:c.T1636G:p.L546V
12 58112189 1 OS9 A G exonic synonymous SNV OS9:NM_001261421:exon10:c.A1299G:p.E433E,OS9:NM_001261422:exon10:c.A1239G:p.E413E,OS9:NM_001017956:exon11:c.A1395G:p.E465E,OS9:NM_001261420:exon11:c.A1398G:p.E466E,OS9:NM_006812:exon11:c.A1395G:p.E465E RS799265 Partial epilepsy:Gene expression of OS9 in liver
12 58126234 1 AGAP2 C A exonic synonymous SNV AGAP2:NM_001122772:exon7:c.G1746T:p.L582L,AGAP2:NM_014770:exon7:c.G738T:p.L246L
12 58149446 2 9-Mar C T exonic synonymous SNV MARCH9:NM_138396:exon1:c.C135T:p.G45G
12 58204283 2 AVIL T C exonic nonsynonymous SNV AVIL:NM_006576:exon6:c.A610G:p.K204E
12 58345606 1 ATP23 T C exonic synonymous SNV ATP23:NM_001320409:exon3:c.T27C:p.L9L,ATP23:NM_001320408:exon4:c.T225C:p.L75L,ATP23:NM_033276:exon4:c.T381C:p.L127L,ATP23:NM_001320410:exon5:c.T27C:p.L9L RS17120203 Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
12 58350631 1 ATP23 C T exonic synonymous SNV ATP23:NM_001320409:exon5:c.C345T:p.H115H,ATP23:NM_001320408:exon6:c.C543T:p.H181H,ATP23:NM_033276:exon6:c.C699T:p.H233H,ATP23:NM_001320410:exon7:c.C345T:p.H115H RS10122 Gene expression of KUB3 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of XRCC6BP1 [probe 227678_at] in lymphoblastoid cell lines:Gene expression of XRCC6BP1 in blood cells in Celiac disease:Differential exon level expression of XRCC6BP1 [probe 3418634] in peripheral blood mononuclear cells:Gene expression of XRCC6BP1 [probe 3418610] in peripheral blood mononuclear cells:Gene expression of XRCC6BP1 [probe ILMN_16915] in osteoblasts:2 hour glucose:Rheumatoid arthritis:Gene expression of XRCC6BP1 in peripheral blood monocytes:Gene expression of FAM119B in peripheral blood monocytes:Gene expression of XRCC6BP1 in CD4+ lymphocytes:Neuroblastoma (brain cancer):Gene expression of TSFM in blood:Gene expression of XRCC6BP1 in blood:Gene expression of FAM119B///TSFM in blood:Diastolic blood pressure (DBP):Gene expression of XRCC6BP1 [probeset 227678_at] in sputum:Gene expression of XRCC6BP1 in liver:Years of education
12 62778065 2 USP15 A G exonic synonymous SNV USP15:NM_001351160:exon9:c.A708G:p.P236P,USP15:NM_006313:exon10:c.A1368G:p.P456P,USP15:NM_001252078:exon11:c.A1455G:p.P485P,USP15:NM_001351163:exon11:c.A456G:p.P152P,USP15:NM_001351164:exon11:c.A456G:p.P152P,USP15:NM_001351159:exon12:c.A1092G:p.P364P,USP15:NM_001351166:exon12:c.A456G:p.P152P,USP15:NM_001351165:exon13:c.A456G:p.P152P RS2044846 College completion
12 62926398 2 MON2 G A exonic synonymous SNV MON2:NM_001278469:exon12:c.G1581A:p.S527S,MON2:NM_001278470:exon12:c.G1581A:p.S527S,MON2:NM_001278471:exon12:c.G1581A:p.S527S,MON2:NM_015026:exon12:c.G1581A:p.S527S,MON2:NM_001278472:exon13:c.G1365A:p.S455S RS7957417 HOMA-B:Rheumatoid arthritis:Autism with verbal ability:Years of education:College completion
12 64875787 2 TBK1 T A exonic synonymous SNV TBK1:NM_013254:exon8:c.T978A:p.I326I RS7486100 Chronic kidney disease:Serum creatinine:Triglycerides:Total cholesterol:Aortic valve calcium:Obesity with early age of onset (age >2):Advanced age-related macular degeneration
12 65824986 2
12 66546100 1 TMBIM4 A G exonic nonsynonymous SNV TMBIM4:NM_001282609:exon3:c.T263C:p.I88T,TMBIM4:NM_001282610:exon3:c.T170C:p.I57T,TMBIM4:NM_016056:exon3:c.T263C:p.I88T,TMBIM4:NM_001282606:exon4:c.T404C:p.I135T RS8793 Gene expression of TMBIM4 [probe 219206_x_at] in lymphoblastoid cell lines:Gene expression of TMBIM4 [probe 3460593] in peripheral blood mononuclear cells:Differential exon level expression of TMBIM4 [probe 3460596] in peripheral blood mononuclear cells:Gene expression of TMBIM4 in CD4+ lymphocytes:Gene expression of TMBIM4 [probe ILMN_22938] in osteoblasts treated with dexamethasone:Gene expression of IRAK3 in blood:Gene expression of [probe 5720768 centered at chr12:64934553] in blood:Gene expression of TMBIM4 [probeset 219206_x_at] in sputum:Sporadic Creutzfeldt-Jakob disease:Gene expression of TMBIM4 in normal prepouch ileum:Gene expression of TMBIM4 (probeID ILMN_1664750) in cerebellum in Alzheimer's disease cases and controls
12 67699536 1 CAND1 G A exonic synonymous SNV CAND1:NM_018448:exon10:c.G2088A:p.E696E,CAND1:NM_001329674:exon11:c.G2016A:p.E672E,CAND1:NM_001329675:exon11:c.G2016A:p.E672E,CAND1:NM_001329676:exon11:c.G1989A:p.E663E RS17781675 Stabilized warfarin dose
12 68052178 1 DYRK2 G T exonic synonymous SNV DYRK2:NM_003583:exon2:c.G1272T:p.G424G,DYRK2:NM_006482:exon3:c.G1491T:p.G497G RS3741644 HDL cholesterol:Gene expression of DYRK2 in blood:Aortic valve calcium:Transmission distortion:Infant head circumference:College completion
12 70195439 1 RAB3IP A G exonic synonymous SNV RAB3IP:NM_001024647:exon6:c.A450G:p.E150E,RAB3IP:NM_001278402:exon6:c.A450G:p.E150E,RAB3IP:NM_022456:exon8:c.A1068G:p.E356E,RAB3IP:NM_175623:exon8:c.A1116G:p.E372E,RAB3IP:NM_175624:exon8:c.A1068G:p.E356E,RAB3IP:NM_175625:exon8:c.A1116G:p.E372E
12 71526593 2 TSPAN8 G A exonic synonymous SNV TSPAN8:NM_004616:exon7:c.C456T:p.C152C RS2270587 Eye color:2 hour glucose:Total cholesterol:Coronary artery disease (CAD):Obesity with early age of onset (age >2)
12 71960208 2 LGR5 G A exonic synonymous SNV LGR5:NM_001277226:exon8:c.G810A:p.Q270Q,LGR5:NM_001277227:exon8:c.G666A:p.Q222Q,LGR5:NM_003667:exon9:c.G882A:p.Q294Q
12 72164395 1 RAB21 C T exonic synonymous SNV RAB21:NM_014999:exon3:c.C243T:p.F81F RS3741688 Total cholesterol:Gene expression of [probe 1770661 centered at chr12:70467005] in blood:Variant Creutzfeldt-Jakob disease
12 74932159 2 ATXN7L3B G C exonic synonymous SNV ATXN7L3B:NM_001136262:exon1:c.G267C:p.L89L RS590352 Triglycerides:HDL cholesterol:LDL cholesterol:Total cholesterol
12 75900588 1 KRR1 A G exonic synonymous SNV KRR1:NM_007043:exon3:c.T367C:p.L123L RS2070162 Gene expression of GLIPR1 [probe 214085_x_at] in lymphoblastoid cell lines:Gene expression of GLIPR1 [probe 204221_x_at] in lymphoblastoid cell lines:HDL cholesterol:HDL cholesterol
12 76449900 1 NAP1L1 T C exonic synonymous SNV NAP1L1:NM_001330232:exon5:c.A282G:p.K94K,NAP1L1:NM_001307924:exon7:c.A471G:p.K157K,NAP1L1:NM_001330231:exon7:c.A471G:p.K157K,NAP1L1:NM_004537:exon7:c.A471G:p.K157K,NAP1L1:NM_139207:exon7:c.A471G:p.K157K
12 76453966 1 NAP1L1 G A exonic synonymous SNV NAP1L1:NM_001330232:exon3:c.C111T:p.H37H,NAP1L1:NM_001307924:exon5:c.C300T:p.H100H,NAP1L1:NM_001330231:exon5:c.C300T:p.H100H,NAP1L1:NM_004537:exon5:c.C300T:p.H100H,NAP1L1:NM_139207:exon5:c.C300T:p.H100H
12 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 88440676 2 C12orf29 G C exonic nonsynonymous SNV C12orf29:NM_001009894:exon6:c.G712C:p.V238L RS9262 Gene expression of FLJ13615 in CHB-JPT lymphoblastoid cell lines:LDL cholesterol
12 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 89744773 1 DUSP6 A C exonic nonsynonymous SNV DUSP6:NM_001946:exon2:c.T430G:p.S144A RS770087 Longstanding arthritis:Maternal transmission distortion:College completion:Obesity with early age of onset (age >2)
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 89917518 1 GALNT4;POC1B-GALNT4 A G exonic nonsynonymous SNV GALNT4:NM_003774:exon1:c.T809C:p.I270T,POC1B-GALNT4:NM_001199781:exon3:c.T800C:p.I267T RS2230281 Triglycerides:Cystatin C in serum:LDL cholesterol:Total cholesterol:Height:Coronary artery disease (CAD):Adiponectin levels
12 93196422 2 EEA1 T G exonic nonsynonymous SNV EEA1:NM_003566:exon19:c.A2428C:p.K810Q RS10745623 Height:Urinary albumin-to-creatinine ratio:Microalbuminuria
12 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 95681554 1 VEZT C T exonic synonymous SNV VEZT:NM_017599:exon9:c.C1443T:p.H481H
12 95694394 2 VEZT G A exonic nonsynonymous SNV VEZT:NM_017599:exon12:c.G2285A:p.G762D RS14121 Gene expression of VEZT [probe ILMN_22823] in osteoblasts:LDL cholesterol:Total cholesterol:Gene expression of VEZT in CD4+ lymphocytes:Gene expression of VEZT in blood:Gene expression of VEZT (ENSG00000028203) in dendritic cells treated with Mycobacterium tuberculosis:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of VEZT (ENSG00000028203) in dendritic cells
12 95906603 1 METAP2 C A exonic synonymous SNV METAP2:NM_001317183:exon9:c.C1026A:p.T342T,METAP2:NM_001317182:exon10:c.C1026A:p.T342T,METAP2:NM_001330246:exon10:c.C1092A:p.T364T,METAP2:NM_006838:exon10:c.C1095A:p.T365T RS3794261 Irritible bowel syndrome:Age-related hearing impairment:Cystatin C in serum:Nicotine dependence (smoking):Microalbuminuria:PROP taste detection threshold:Advanced age-related macular degeneration (geographic atrophy)
12 96077312 1 NTN4 C T exonic synonymous SNV NTN4:NM_001329700:exon6:c.G1356A:p.A452A,NTN4:NM_001329701:exon6:c.G1245A:p.A415A,NTN4:NM_001329702:exon6:c.G1245A:p.A415A,NTN4:NM_021229:exon6:c.G1356A:p.A452A
12 96337225 1 AMDHD1 C T exonic synonymous SNV AMDHD1:NM_152435:exon1:c.C49T:p.L17L RS1436121 Cystatin C in serum:Methylation levels at chr12:94862169-94862219 [hg18 coord, probe cg07236190] in Caudal pons:Methylation levels at chr12:94860202-94860252 [hg18 coord, probe cg25229172] in Caudal pons:Methylation levels at chr12:94862169-94862219 [hg18 coord, probe cg07236190] in Temporal cortex:Methylation levels at chr12:94860202-94860252 [hg18 coord, probe cg25229172] in Cerebellum:Methylation levels at chr12:94860202-94860252 [hg18 coord, probe cg25229172] in Temporal cortex:Methylation levels at chr12:94860202-94860252 [hg18 coord, probe cg25229172] in Frontal cortex:Triglycerides:Gene expression of AMDHD1 (probeID ILMN_1788239) in cerebellum in Alzheimer's disease cases and controls:Mitral annular calcium:Gene expression of AMDHD1 (probeID ILMN_1788239) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of AMDHD1 in normal prepouch ileum
12 96676330 1 CDK17 C A exonic synonymous SNV CDK17:NM_001170464:exon15:c.G1413T:p.V471V,CDK17:NM_002595:exon15:c.G1413T:p.V471V
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 100706368 1 SCYL2 G A exonic synonymous SNV SCYL2:NM_001317784:exon6:c.G789A:p.G263G,SCYL2:NM_001330253:exon6:c.G789A:p.G263G,SCYL2:NM_001330254:exon6:c.G789A:p.G263G,SCYL2:NM_017988:exon6:c.G789A:p.G263G,SCYL2:NM_001330256:exon7:c.G270A:p.G90G
12 100709420 1 SCYL2 C T exonic synonymous SNV SCYL2:NM_001317784:exon9:c.C1180T:p.L394L,SCYL2:NM_001330253:exon9:c.C1180T:p.L394L,SCYL2:NM_001330254:exon9:c.C1180T:p.L394L,SCYL2:NM_017988:exon9:c.C1180T:p.L394L,SCYL2:NM_001330256:exon10:c.C661T:p.L221L RS10860577 HDL cholesterol:Obesity with early age of onset (age >2)
12 101017445 2 GAS2L3 T C exonic synonymous SNV GAS2L3:NM_001303130:exon9:c.T862C:p.L288L,GAS2L3:NM_001303131:exon10:c.T550C:p.L184L,GAS2L3:NM_174942:exon10:c.T862C:p.L288L
12 101732655 1 UTP20 C T exonic synonymous SNV UTP20:NM_014503:exon31:c.C3933T:p.S1311S
12 101750814 2 UTP20 T A exonic nonsynonymous SNV UTP20:NM_014503:exon43:c.T5645A:p.L1882Q RS10082778 Total cholesterol:Parkinson's disease
12 102117589 1 CHPT1 C T exonic synonymous SNV CHPT1:NM_020244:exon7:c.C1029T:p.N343N RS11082 LDL cholesterol:Triglycerides:Fasting blood glucose
12 102158763 1 GNPTAB T C exonic synonymous SNV GNPTAB:NM_024312:exon13:c.A1932G:p.T644T RS10778148 Gene expression of CHPT1 [probe 230364_at] in lymphoblastoid cell lines:Gene expression of CHPT1 [probe 221675_s_at] in lymphoblastoid cell lines
12 103237468 1 PAH G C exonic synonymous SNV PAH:NM_000277:exon11:c.C1155G:p.L385L RS772897 Lp-PLA2 activity:Rheumatoid arthritis:Total cholesterol:LDL cholesterol:Height:Adiponectin levels
12 103248924 1 PAH C T exonic synonymous SNV PAH:NM_000277:exon6:c.G696A:p.Q232Q RS1126758 Triglycerides:Total cholesterol:Adiponectin levels
12 104327979 1 HSP90B1 C T exonic synonymous SNV HSP90B1:NM_003299:exon5:c.C657T:p.T219T
12 105520069 1 WASHC4 G T exonic nonsynonymous SNV WASHC4:NM_001293640:exon12:c.G967T:p.V323L,WASHC4:NM_015275:exon12:c.G967T:p.V323L
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 105600935 1 APPL2 G A exonic synonymous SNV APPL2:NM_001251904:exon8:c.C543T:p.H181H,APPL2:NM_001251905:exon8:c.C396T:p.H132H,APPL2:NM_018171:exon8:c.C525T:p.H175H RS2293643 Abnormal Involuntary Movement Scale:Serum creatinine:Waist hip ratio
12 106704974 1 TCP11L2 G A exonic nonsynonymous SNV TCP11L2:NM_001286262:exon2:c.G121A:p.A41T,TCP11L2:NM_152772:exon2:c.G121A:p.A41T RS4964460 Height:Gene expression of POLR3B in blood
12 106903321 1 POLR3B T C exonic synonymous SNV POLR3B:NM_001160708:exon28:c.T3222C:p.N1074N,POLR3B:NM_018082:exon28:c.T3396C:p.N1132N RS13561 Gene expression of POLR3B in liver:Simpson-Angus Scale:Height:Adiponectin levels
12 107372251 1 MTERF2 G C exonic nonsynonymous SNV MTERF2:NM_001033050:exon3:c.C242G:p.A81G,MTERF2:NM_025198:exon3:c.C242G:p.A81G
12 107372453 1 MTERF2 G C exonic nonsynonymous SNV MTERF2:NM_001033050:exon3:c.C40G:p.L14V,MTERF2:NM_025198:exon3:c.C40G:p.L14V
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 108096769 1 PWP1 G C exonic nonsynonymous SNV PWP1:NM_001317962:exon9:c.G678C:p.L226F,PWP1:NM_001317963:exon9:c.G228C:p.L76F,PWP1:NM_007062:exon9:c.G864C:p.L288F RS11547907 Triglycerides:HDL cholesterol:HDL cholesterol:Birth weight:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
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 108941679 1 SART3 G A exonic synonymous SNV SART3:NM_014706:exon3:c.C528T:p.A176A RS12579216 Neuroticism:2 hour glucose:Bipolar disorder in alcoholics:Obesity with early age of onset (age >2)
12 108954823 2 SART3 C T exonic synonymous SNV SART3:NM_014706:exon1:c.G108A:p.R36R
12 108954862 1 SART3 G C exonic nonsynonymous SNV SART3:NM_014706:exon1:c.C69G:p.D23E RS2072579 HDL cholesterol:Waist hip ratio:Parkinson's disease
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 109644616 1 ACACB C T exonic synonymous SNV ACACB:NM_001093:exon19:c.C3015T:p.N1005N
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 109696838 2 ACACB G A exonic nonsynonymous SNV ACACB:NM_001093:exon46:c.G6421A:p.V2141I RS2075260 LDL cholesterol:Cystatin C in serum:Triglycerides:Bipolar disorder:Obesity with early age of onset (age >2)
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 109968427 1 UBE3B C T exonic synonymous SNV UBE3B:NM_130466:exon26:c.C2886T:p.S962S,UBE3B:NM_183415:exon26:c.C2886T:p.S962S
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 110011229 1 MMAB G T exonic synonymous SNV MMAB:NM_052845:exon1:c.C57A:p.R19R
12 110011230 1 MMAB C T exonic nonsynonymous SNV MMAB:NM_052845:exon1:c.G56A:p.R19H
12 110238481 2 TRPV4 G A exonic synonymous SNV TRPV4:NM_147204:exon4:c.C795T:p.H265H,TRPV4:NM_001177431:exon5:c.C693T:p.H231H,TRPV4:NM_021625:exon5:c.C795T:p.H265H
12 110240838 2 TRPV4 T G exonic synonymous SNV TRPV4:NM_001177428:exon3:c.A670C:p.R224R,TRPV4:NM_001177433:exon3:c.A670C:p.R224R,TRPV4:NM_147204:exon3:c.A670C:p.R224R,TRPV4:NM_001177431:exon4:c.A568C:p.R190R,TRPV4:NM_021625:exon4:c.A670C:p.R224R RS3825394 Rheumatoid arthritis:Triglycerides:Bipolar disorder
12 110780107 1 ATP2A2 G A exonic synonymous SNV ATP2A2:NM_001681:exon15:c.G2172A:p.A724A,ATP2A2:NM_170665:exon15:c.G2172A:p.A724A
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 113357237 2 OAS1 G C exonic nonsynonymous SNV OAS1:NM_016816:exon6:c.G1082C:p.R361T RS1051042 Gene expression of OAS1 in CHB lymphoblastoid cell lines:Gene expression of OAS2 [probe 228607_at] in lymphoblastoid cell lines:Gene expression of OAS1 [probe 202869_at] in lymphoblastoid cell lines:Lp-PLA2 activity:Gene expression of OAS1 (probeID ILMN_1658247) in temporal cortex in Alzheimer's disease cases and controls:College completion:Gene expression of OAS1 (probeID ILMN_1658247) in cerebellum in Alzheimer's disease cases and controls
12 113357442 2 OAS1 G A exonic nonsynonymous SNV OAS1:NM_001032409:exon6:c.G1189A:p.G397R RS2660 Type 1 diabetes, gender differentiated:Gene expression of OAS1 in CHB lymphoblastoid cell lines:Gene expression of OAS2 [probe 228607_at] in lymphoblastoid cell lines:Gene expression of OAS1 [probe 202869_at] in lymphoblastoid cell lines:Lp-PLA2 activity:Gene expression of OAS3 in peripheral blood monocytes: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:College completion:Gene expression of OAS1 (probeID ILMN_1658247) in temporal cortex in Alzheimer's disease cases and controls
12 113386779 2 OAS3 C G exonic nonsynonymous SNV OAS3:NM_006187:exon6:c.C1143G:p.S381R RS2285933 Gene expression of OAS2 [probe 228607_at] in lymphoblastoid cell lines:Gene expression of OAS1 [probe 202869_at] in lymphoblastoid cell lines:HOMA-IR:Fasting blood glucose:Pancreatic cancer:Gene expression of OAS1 (probeID ILMN_1658247) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of OAS1 (probeID ILMN_1658247) in cerebellum in Alzheimer's disease cases and controls
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 114377885 1 RBM19 G C exonic synonymous SNV RBM19:NM_001146698:exon15:c.C1818G:p.T606T,RBM19:NM_001146699:exon15:c.C1818G:p.T606T,RBM19:NM_016196:exon15:c.C1818G:p.T606T
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 116408538 1 MED13L A G exonic synonymous SNV MED13L:NM_015335:exon27:c.T5928C:p.T1976T RS2304460 Total cholesterol:HDL cholesterol:Height
12 117349014 2 FBXW8 C G exonic nonsynonymous SNV FBXW8:NM_153348:exon1:c.C172G:p.R58G
12 117465857 2 FBXW8 T C exonic synonymous SNV FBXW8:NM_012174:exon11:c.T1479C:p.Y493Y,FBXW8:NM_153348:exon11:c.T1677C:p.Y559Y RS4529958 Asthma:Infant head circumference:Obesity with early age of onset (age >2):Hypertension (early onset hypertension)
12 118108785 2
12 118473054 2 WSB2 T C exonic synonymous SNV WSB2:NM_001278558:exon5:c.A279G:p.P93P,WSB2:NM_001278557:exon7:c.A960G:p.P320P,WSB2:NM_018639:exon7:c.A909G:p.P303P RS9788041 Type 1 diabetes, Rheumatoid arthritis, Crohn's disease, combined case analysis:Total cholesterol:PROP taste detection threshold
12 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 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 120960057 1 COQ5 C T exonic synonymous SNV COQ5:NM_032314:exon2:c.G312A:p.P104P RS503335 2 hour glucose:Waist hip ratio:Gene expression of COQ5 in blood:Gene expression of POP5 in blood:Gene expression of GATC in blood:Years of education:College completion
12 121017171 1 POP5 A G exonic synonymous SNV POP5:NM_198202:exon4:c.T292C:p.L98L,POP5:NM_015918:exon5:c.T442C:p.L148L RS7174 Gene expression of POP5 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Eye color:Waist hip ratio:Body mass index (BMI):Neuroblastoma (brain cancer):Gene expression of GATC in blood:Gene expression of COQ5 in blood:Gene expression of POP5 in blood:College completion:Type 1 diabetes, end stage renal disease vs. normal albuminuria:Years of education
12 121174899 2 ACADS T C exonic synonymous SNV ACADS:NM_000017:exon3:c.T321C:p.R107R,ACADS:NM_001302554:exon3:c.T321C:p.R107R RS3914 HOMA-IR:Fasting insulin:Methylation levels at chr12:119647826-119647876 [hg18 coord, probe cg27522780] in Temporal cortex:Gene expression of UNC119B (ENSG00000175970) in dendritic cells:Red blood cell count (RBC):Mean corpuscular volume (MCV):Mean corpuscular hemoglobin concentration (MCHC):Gene expression of ACADS (ENSG00000122971) in dendritic cells treated with Mycobacterium tuberculosis
12 121176679 2 ACADS C T exonic synonymous SNV ACADS:NM_000017:exon8:c.C990T:p.R330R,ACADS:NM_001302554:exon8:c.C978T:p.R326R
12 121432117 1 HNF1A G C exonic synonymous SNV HNF1A:NM_000545:exon4:c.G864C:p.G288G,HNF1A:NM_001306179:exon4:c.G864C:p.G288G
12 121437382 2 HNF1A A G exonic nonsynonymous SNV HNF1A:NM_000545:exon9:c.A1720G:p.S574G,HNF1A:NM_001306179:exon9:c.A1741G:p.S581G
12 121442199 1 C12orf43 T A exonic synonymous SNV C12orf43:NM_001286197:exon5:c.A450T:p.T150T,C12orf43:NM_001286191:exon6:c.A639T:p.T213T,C12orf43:NM_001286192:exon6:c.A549T:p.T183T,C12orf43:NM_001286195:exon6:c.A516T:p.T172T,C12orf43:NM_001286196:exon6:c.A513T:p.T171T,C12orf43:NM_022895:exon6:c.A546T:p.T182T,C12orf43:NM_001286198:exon7:c.A423T:p.T141T RS3751151 LDL cholesterol:C4:Phe-PTC / C4:Cystatin C in serum:Total cholesterol:LDL cholesterol:HDL cholesterol:Alcohol dependence symptoms:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Coronary artery disease (CAD)
12 121442214 1 C12orf43 G A exonic synonymous SNV C12orf43:NM_001286197:exon5:c.C435T:p.I145I,C12orf43:NM_001286191:exon6:c.C624T:p.I208I,C12orf43:NM_001286192:exon6:c.C534T:p.I178I,C12orf43:NM_001286195:exon6:c.C501T:p.I167I,C12orf43:NM_001286196:exon6:c.C498T:p.I166I,C12orf43:NM_022895:exon6:c.C531T:p.I177I,C12orf43:NM_001286198:exon7:c.C408T:p.I136I RS3751150 LDL cholesterol:Serum creatinine:Cystatin C in serum:Total cholesterol:LDL cholesterol:Systolic blood pressure (SBP)
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 121660787 2 P2RX4 T C exonic synonymous SNV P2RX4:NM_001261398:exon5:c.T465C:p.S155S,P2RX4:NM_002560:exon5:c.T465C:p.S155S,P2RX4:NM_001256796:exon6:c.T513C:p.S171S RS25643 Gene expression of P2RX4 in peripheral blood monocytes:Gene expression of CAMKK2 in peripheral blood monocytes
12 121666646 1 P2RX4 A G exonic nonsynonymous SNV P2RX4:NM_001261397:exon7:c.A643G:p.S215G,P2RX4:NM_001261398:exon7:c.A724G:p.S242G,P2RX4:NM_002560:exon7:c.A724G:p.S242G,P2RX4:NM_001256796:exon8:c.A772G:p.S258G RS25644 P2RX4 (Trancript: NM_175568) expression in Blood tissue:Body mass index (BMI):2-Hydroxyisobutyrate concentration
12 121691096 1 CAMKK2 G A exonic nonsynonymous SNV CAMKK2:NM_001270486:exon9:c.C1087T:p.R363C,CAMKK2:NM_001270485:exon10:c.C1087T:p.R363C,CAMKK2:NM_006549:exon10:c.C1087T:p.R363C,CAMKK2:NM_153499:exon10:c.C1087T:p.R363C,CAMKK2:NM_153500:exon10:c.C1087T:p.R363C,CAMKK2:NM_172214:exon10:c.C1087T:p.R363C,CAMKK2:NM_172215:exon10:c.C1087T:p.R363C,CAMKK2:NM_172216:exon10:c.C1087T:p.R363C,CAMKK2:NM_172226:exon10:c.C1087T:p.R363C RS1132780 2-Hydroxyisobutyrate concentration
12 121712077 1 CAMKK2 T A exonic nonsynonymous SNV CAMKK2:NM_001270486:exon1:c.A253T:p.T85S,CAMKK2:NM_001270485:exon2:c.A253T:p.T85S,CAMKK2:NM_006549:exon2:c.A253T:p.T85S,CAMKK2:NM_153499:exon2:c.A253T:p.T85S,CAMKK2:NM_153500:exon2:c.A253T:p.T85S,CAMKK2:NM_172214:exon2:c.A253T:p.T85S,CAMKK2:NM_172215:exon2:c.A253T:p.T85S,CAMKK2:NM_172216:exon2:c.A253T:p.T85S,CAMKK2:NM_172226:exon2:c.A253T:p.T85S RS3817190 Type 2 diabetes:2 hour glucose:Height:2-Hydroxyisobutyrate concentration
12 121878659 2 KDM2B C T exonic synonymous SNV KDM2B:NM_001005366:exon20:c.G3363A:p.Q1121Q,KDM2B:NM_032590:exon21:c.G3570A:p.Q1190Q RS1064951 Type 2 diabetes:Fasting blood glucose:Body mass index (BMI):Diastolic blood pressure (DBP):Bipolar disorder:Adiponectin levels:Obesity with early age of onset (age >2):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
12 121880520 2 KDM2B G A exonic synonymous SNV KDM2B:NM_001005366:exon18:c.C2517T:p.D839D,KDM2B:NM_032590:exon19:c.C2724T:p.D908D RS3751131 Type 2 diabetes:Fasting blood glucose:Body mass index (BMI):Diastolic blood pressure (DBP):Obesity with early age of onset (age >2):Adiponectin levels:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
12 121881848 2 KDM2B G A exonic synonymous SNV KDM2B:NM_001005366:exon16:c.C2325T:p.Y775Y,KDM2B:NM_032590:exon16:c.C2418T:p.Y806Y RS10849885 Obesity with early age of onset (age >2):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Coronary artery disease (CAD):Birth weight
12 122079441 1 ORAI1 T C exonic synonymous SNV ORAI1:NM_032790:exon2:c.T804C:p.T268T RS3825175 Obesity with early age of onset (age >2)
12 122186268 2 TMEM120B C T exonic synonymous SNV TMEM120B:NM_001080825:exon3:c.C225T:p.L75L RS28651018 2-Hydroxyisobutyrate concentration
12 122186317 2 TMEM120B G A exonic nonsynonymous SNV TMEM120B:NM_001080825:exon3:c.G274A:p.D92N RS28655666 2-Hydroxyisobutyrate concentration
12 122243905 2 SETD1B C T exonic synonymous SNV SETD1B:NM_015048:exon3:c.C438T:p.I146I RS1168666 HDL cholesterol:HDL cholesterol:Triglycerides:Microalbuminuria:Salmonella-induced pyroptosis
12 122295335 2 HPD T C exonic nonsynonymous SNV HPD:NM_002150:exon4:c.A97G:p.T33A RS1154510 Triglycerides:Total cholesterol:2-Hydroxyisobutyrate concentration:Adiponectin levels
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 122812503 2 CLIP1 G C exonic nonsynonymous SNV CLIP1:NM_198240:exon15:c.C3102G:p.D1034E,CLIP1:NM_002956:exon16:c.C3207G:p.D1069E,CLIP1:NM_001247997:exon17:c.C3240G:p.D1080E RS1129167 LDL cholesterol:Serum creatinine:Body mass index (BMI):Adiponectin levels
12 122862233 1 CLIP1 T C exonic synonymous SNV CLIP1:NM_001247997:exon3:c.A360G:p.R120R,CLIP1:NM_002956:exon3:c.A360G:p.R120R,CLIP1:NM_198240:exon3:c.A360G:p.R120R
12 123030788 1 KNTC1 G T exonic nonsynonymous SNV KNTC1:NM_014708:exon9:c.G735T:p.K245N RS7968222 Arthritis including non-Rheumatoid:Gene expression of KNTC1 in peripheral blood monocytes:Height:Urinary albumin-to-creatinine ratio:Gene expression of KNTC1 in blood:Primary rhegmatogenous retinal detachment:Advanced age-related macular degeneration (geographic atrophy)
12 123200937 1 HCAR3 T G exonic synonymous SNV HCAR3:NM_006018:exon1:c.A348C:p.I116I
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 123470586 1 PITPNM2 C T exonic synonymous SNV PITPNM2:NM_001300801:exon25:c.G4020A:p.A1340A,PITPNM2:NM_020845:exon25:c.G4038A:p.A1346A RS12828755 2-Hydroxyisobutyrate concentration
12 123645803 1 MPHOSPH9 G A exonic synonymous SNV MPHOSPH9:NM_022782:exon22:c.C3261T:p.Y1087Y RS1051431 Rheumatoid arthritis:Height:Body mass index (BMI):Height (adult males):Height (adult females):Height (adults):2-Hydroxyisobutyrate concentration:Diastolic blood pressure (DBP):Gene expression of SETD8 in normal prepouch ileum:Advanced age-related macular degeneration:Years of education:Infant head circumference:College completion:Gene expression of C12orf65 in normal prepouch ileum:Advanced age-related macular degeneration (geographic atrophy)
12 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 123806219 1 SBNO1 C T exonic nonsynonymous SNV SBNO1:NM_001167856:exon17:c.G2186A:p.S729N,SBNO1:NM_018183:exon17:c.G2183A:p.S728N RS1060105 Height:Differential exon level expression of MPHOSPH9 [probe 3476020] in brain cortex:Rheumatoid arthritis:Gene expression of MPHOSPH9 in peripheral blood monocytes:Asthma:Height:Gene expression:Gene expression of CDK2AP1 [probe ILMN_19522] in osteoblasts treated with BMP2:2-Hydroxyisobutyrate concentration:Gene expression of CDK2AP1 [transcript NM_004642, probe A_23_P139486] in liver:Gene expression of MPHOSPH9 in blood:Gene expression of CDK2AP1 in blood:Diastolic blood pressure (DBP):Infant head circumference:Advanced age-related macular degeneration (geographic atrophy):Gene expression of SETD8 in normal prepouch ileum:College completion:Gene expression of CDK2AP1 in normal prepouch ileum:Years of education:Advanced age-related macular degeneration
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 124017850 1 RILPL1 G C exonic synonymous SNV RILPL1:NM_001319243:exon1:c.C180G:p.V60V,RILPL1:NM_178314:exon1:c.C180G:p.V60V RS28492040 Renal cell carcinoma (renal cancer)
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 124069214 1 TMED2 C T exonic synonymous SNV TMED2:NM_001321445:exon1:c.C31T:p.L11L,TMED2:NM_006815:exon1:c.C31T:p.L11L
12 124104049 1 DDX55 A G exonic synonymous SNV DDX55:NM_020936:exon13:c.A1404G:p.G468G RS15587 HDL cholesterol:HDL cholesterol change with statins
12 124104686 1 DDX55 G A exonic synonymous SNV DDX55:NM_020936:exon14:c.G1802A:p.X601X RS3204541 HDL cholesterol:HDL cholesterol change with statins:College completion
12 124144395 1 GTF2H3 A G exonic synonymous SNV GTF2H3:NM_001271866:exon9:c.A609G:p.P203P,GTF2H3:NM_001271867:exon10:c.A615G:p.P205P,GTF2H3:NM_001271868:exon10:c.A300G:p.P100P,GTF2H3:NM_001516:exon11:c.A738G:p.P246P RS1051793 Parkinson's disease (PD)
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 124856618 1 NCOR2 A G exonic synonymous SNV NCOR2:NM_001077261:exon21:c.T2703C:p.A901A,NCOR2:NM_001206654:exon21:c.T2703C:p.A901A,NCOR2:NM_006312:exon22:c.T2757C:p.A919A RS7961196 Fasting blood glucose:HOMA-B:Total cholesterol:Triglycerides:LDL cholesterol
12 124856660 1 NCOR2 T A exonic synonymous SNV NCOR2:NM_001077261:exon21:c.A2661T:p.T887T,NCOR2:NM_001206654:exon21:c.A2661T:p.T887T,NCOR2:NM_006312:exon22:c.A2715T:p.T905T
12 124979789 1 NCOR2 T G exonic synonymous SNV NCOR2:NM_001077261:exon3:c.A9C:p.G3G,NCOR2:NM_001206654:exon3:c.A9C:p.G3G,NCOR2:NM_006312:exon3:c.A9C:p.G3G
12 125263061 1 SCARB1 C T exonic synonymous SNV SCARB1:NM_001082959:exon12:c.G1473A:p.P491P
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 125298877 1 SCARB1 G A exonic synonymous SNV SCARB1:NM_001082959:exon4:c.C501T:p.G167G,SCARB1:NM_005505:exon4:c.C501T:p.G167G RS5889 Serum creatinine:HOMA-IR:Fasting insulin
12 125397750 2 UBC A G exonic nonsynonymous SNV UBC:NM_021009:exon2:c.T568C:p.S190P
12 125398039 1 UBC G C exonic synonymous SNV UBC:NM_021009:exon2:c.C279G:p.V93V
12 125437019 1 DHX37 T C exonic synonymous SNV DHX37:NM_032656:exon21:c.A2793G:p.A931A
12 125438516 1 DHX37 T C exonic nonsynonymous SNV DHX37:NM_032656:exon20:c.A2605G:p.S869G RS4516060 Arthritis including non-Rheumatoid:Differential exon level expression of DHX37 [probe 3476804] in brain cortex:Differential exon level expression of DHX37 [probe 3476804] in peripheral blood mononuclear cells:Infant head circumference
12 125438523 1 DHX37 C T exonic synonymous SNV DHX37:NM_032656:exon20:c.G2598A:p.E866E
12 125441359 1 DHX37 T C exonic synonymous SNV DHX37:NM_032656:exon18:c.A2331G:p.T777T RS10773127 HDL cholesterol:Height
12 125448960 1 DHX37 C T exonic synonymous SNV DHX37:NM_032656:exon15:c.G2025A:p.T675T RS4076777 HDL cholesterol
12 125453115 1 DHX37 C T exonic nonsynonymous SNV DHX37:NM_032656:exon10:c.G1373A:p.R458Q RS11057939 Lp-PLA2 activity:HDL cholesterol:Triglycerides:Diastolic blood pressure (DBP)
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 132237750 1 SFSWAP C T exonic synonymous SNV SFSWAP:NM_001261411:exon8:c.C1164T:p.D388D,SFSWAP:NM_004592:exon8:c.C1164T:p.D388D RS1051219 Eye color:Triglycerides:Comorbid depressive syndrome and alcohol dependence:Infant head circumference:Transmission distortion
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 132250712 1 SFSWAP G C exonic synonymous SNV SFSWAP:NM_001261411:exon13:c.G2001C:p.L667L,SFSWAP:NM_004592:exon13:c.G2001C:p.L667L RS1051233 Infant head circumference
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 132403161 2 ULK1 A G exonic nonsynonymous SNV ULK1:NM_003565:exon23:c.A2446G:p.T816A
12 132416780 1 PUS1 C A exonic synonymous SNV PUS1:NM_001002019:exon3:c.C280A:p.R94R,PUS1:NM_001002020:exon3:c.C280A:p.R94R,PUS1:NM_025215:exon3:c.C364A:p.R122R
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 133146697 1 FBRSL1 G A exonic nonsynonymous SNV FBRSL1:NM_001142641:exon7:c.G877A:p.A293T
12 133160238 2 FBRSL1 G C exonic synonymous SNV FBRSL1:NM_001142641:exon17:c.G3012C:p.T1004T
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 133212582 1 POLE G A exonic synonymous SNV POLE:NM_006231:exon42:c.C5707T:p.L1903L RS5744990 Spine bone mineral density (BMD):Hip bone mineral density (BMD):LDL cholesterol:Gene expression of [probe 870736 centered at chr12:131671516] in blood:Adiponectin levels:Hypertension (early onset hypertension)
12 133236000 1 POLE C T exonic synonymous SNV POLE:NM_006231:exon26:c.G3156A:p.T1052T RS5744857 LDL cholesterol:Chronic kidney disease:Cystatin C in serum:Body mass index (BMI):Gene expression of PXMP2 (probeID ILMN_1681634) in cerebellum in Alzheimer's disease cases and controls:Gene expression of POLE (probeID ILMN_1728199) in temporal cortex in Alzheimer's disease cases and controls:Birth weight:Gene expression of PXMP2 (probeID ILMN_1681634) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of POLE (probeID ILMN_1728199) in cerebellum in Alzheimer's disease cases and controls
12 133264332 1 PXMP2 C T exonic synonymous SNV PXMP2:NM_018663:exon1:c.C76T:p.L26L
12 133331459 1 ANKLE2 G C exonic nonsynonymous SNV ANKLE2:NM_015114:exon2:c.C442G:p.Q148E RS7968520 Triglycerides:Body mass index (BMI)
12 133357412 1 GOLGA3 T C exonic nonsynonymous SNV GOLGA3:NM_005895:exon18:c.A3554G:p.K1185R RS2291260 LDL cholesterol:HDL cholesterol change with statins:Suicide attempts in bipolar disorder (males):Gene expression of ZNF605 in blood:Gene expression of CHFR in blood:Comorbid depressive syndrome and alcohol dependence:Years of education
12 133363006 1 GOLGA3 G A exonic synonymous SNV GOLGA3:NM_001172557:exon15:c.C3042T:p.L1014L,GOLGA3:NM_005895:exon15:c.C3042T:p.L1014L
12 133378440 1 GOLGA3 C T exonic synonymous SNV GOLGA3:NM_001172557:exon8:c.G1713A:p.L571L,GOLGA3:NM_005895:exon8:c.G1713A:p.L571L RS2291258 Stabilized warfarin dose:Differential exon level expression of CHFR [probe 3479486] in brain cortex:Premature ovarian failure:Suicide attempts in bipolar disorder (males):Birth weight:Primary rhegmatogenous retinal detachment
12 133428242 1 CHFR G A exonic nonsynonymous SNV CHFR:NM_001161347:exon10:c.C1214T:p.A405V,CHFR:NM_001161344:exon12:c.C1490T:p.A497V,CHFR:NM_001161345:exon12:c.C1487T:p.A496V,CHFR:NM_001161346:exon12:c.C1454T:p.A485V,CHFR:NM_018223:exon12:c.C1367T:p.A456V RS2306541 Stabilized warfarin dose:HDL cholesterol change with statins:HDL cholesterol change with statins:Cystatin C in serum:HDL cholesterol:Body mass index (BMI):Microalbuminuria:Suicide attempts in bipolar disorder (males):Gene expression of CHFR in blood
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 133634950 1 ZNF84 A G exonic nonsynonymous SNV ZNF84:NM_001127372:exon5:c.A1649G:p.K550R,ZNF84:NM_001289971:exon5:c.A1649G:p.K550R,ZNF84:NM_001289972:exon5:c.A1649G:p.K550R,ZNF84:NM_003428:exon5:c.A1649G:p.K550R
12 133682655 1 ZNF140 A G exonic synonymous SNV ZNF140:NM_001300776:exon4:c.A483G:p.Q161Q,ZNF140:NM_001300777:exon5:c.A408G:p.Q136Q,ZNF140:NM_003440:exon5:c.A792G:p.Q264Q,ZNF140:NM_001300778:exon6:c.A483G:p.Q161Q RS710945 HOMA-B:Fasting blood glucose:Gene expression of ZNF10 in normal prepouch ileum
12 133778796 1 ZNF268 C T exonic nonsynonymous SNV ZNF268:NM_001165884:exon3:c.C100T:p.R34W,ZNF268:NM_001165883:exon4:c.C301T:p.R101W,ZNF268:NM_001165886:exon4:c.C196T:p.R66W,ZNF268:NM_001165885:exon5:c.C397T:p.R133W,ZNF268:NM_001165881:exon6:c.C524T:p.T175M,ZNF268:NM_001165882:exon6:c.C275T:p.T92M,ZNF268:NM_003415:exon6:c.C524T:p.T175M RS7975069 Stabilized warfarin dose:Schizophrenia:Alzheimer's disease:Gene expression of ZNF84 in Cerebellum:Gene expression of ZNF84 in blood
12 133780309 1 ZNF268 G T exonic nonsynonymous SNV ZNF268:NM_001165881:exon6:c.G2037T:p.L679F,ZNF268:NM_001165882:exon6:c.G1788T:p.L596F,ZNF268:NM_003415:exon6:c.G2037T:p.L679F
12 153284483 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 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 21720956 2 SAP18 C T exonic synonymous SNV SAP18:NM_005870:exon3:c.C252T:p.T84T
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 22178258 1 MICU2 C T exonic synonymous SNV MICU2:NM_152726:exon1:c.G30A:p.R10R
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 24234517 2 TNFRSF19 A G exonic synonymous SNV TNFRSF19:NM_001204459:exon5:c.A228G:p.S76S,TNFRSF19:NM_001204458:exon7:c.A624G:p.S208S,TNFRSF19:NM_018647:exon7:c.A624G:p.S208S,TNFRSF19:NM_148957:exon7:c.A624G:p.S208S RS3751364 Aortic valve calcium
13 24242165 1 TNFRSF19 C T exonic synonymous SNV TNFRSF19:NM_001204459:exon6:c.C387T:p.S129S,TNFRSF19:NM_001204458:exon8:c.C783T:p.S261S,TNFRSF19:NM_018647:exon8:c.C783T:p.S261S,TNFRSF19:NM_148957:exon8:c.C783T:p.S261S
13 24243200 2 TNFRSF19 T C exonic synonymous SNV TNFRSF19:NM_001204459:exon7:c.T813C:p.G271G,TNFRSF19:NM_001204458:exon9:c.T1209C:p.G403G,TNFRSF19:NM_018647:exon9:c.T1209C:p.G403G,TNFRSF19:NM_148957:exon9:c.T1209C:p.G403G
13 24411772 2 MIPEP T C exonic nonsynonymous SNV MIPEP:NM_005932:exon13:c.A1462G:p.S488G
13 25000617 1 PARP4 C G exonic nonsynonymous SNV PARP4:NM_006437:exon33:c.G4966C:p.A1656P RS7571 Systolic blood pressure (SBP):Refractive error:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
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 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 25823441 1 MTMR6 C T exonic nonsynonymous SNV MTMR6:NM_004685:exon14:c.G1795A:p.A599T
13 25823451 1 MTMR6 A G exonic synonymous SNV MTMR6:NM_004685:exon14:c.T1785C:p.Y595Y RS17082035 Triglycerides:Triglycerides:Total cholesterol:LDL cholesterol:Comorbid depressive syndrome and alcohol dependence
13 25876011 2 NUP58 G A exonic nonsynonymous SNV NUP58:NM_001008564:exon1:c.G100A:p.A34T,NUP58:NM_014089:exon1:c.G100A:p.A34T RS12871898 Hand osteoarthritis:LDL cholesterol:Optic cup-to-disc ratio:Rheumatoid arthritis:Gene expression of IFITM4P in peripheral blood monocytes:LDL cholesterol:Asthma
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 28009920 2 MTIF3 G C exonic nonsynonymous SNV MTIF3:NM_001166261:exon5:c.C729G:p.F243L,MTIF3:NM_001166262:exon5:c.C729G:p.F243L,MTIF3:NM_152912:exon5:c.C729G:p.F243L,MTIF3:NM_001166263:exon6:c.C729G:p.F243L RS1218825 Cystatin C in serum:Pulmonary tuberculosis
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 30091819 2 SLC7A1 G C exonic synonymous SNV SLC7A1:NM_003045:exon10:c.C1401G:p.G467G RS2482090 Serum creatinine:Mitral annular calcium
13 30097543 1 SLC7A1 C T exonic synonymous SNV SLC7A1:NM_003045:exon7:c.G909A:p.G303G
13 31231806 2 USPL1 T C exonic nonsynonymous SNV USPL1:NM_001321534:exon6:c.T605C:p.L202S,USPL1:NM_001321533:exon7:c.T605C:p.L202S,USPL1:NM_001321532:exon8:c.T1049C:p.L350S,USPL1:NM_005800:exon9:c.T1592C:p.L531S RS7984952 Coronary heart disease including Myocardial Infarction (MI), Coronary Insufficiency, CHD death:Irritible bowel syndrome:Triglycerides:Alzheimer's disease:Gene expression of USPL1 in peripheral blood monocytes:Gene expression of USPL1 [probe ILMN_27577] in osteoblasts treated with PGE2:Gene expression of USPL1 in blood:Gene expression of ALOX5AP in blood:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (geographic atrophy):Transmission distortion:Years of education
13 31233063 2 USPL1 G A exonic nonsynonymous SNV USPL1:NM_001321534:exon6:c.G1862A:p.S621N,USPL1:NM_001321533:exon7:c.G1862A:p.S621N,USPL1:NM_001321532:exon8:c.G2306A:p.S769N,USPL1:NM_005800:exon9:c.G2849A:p.S950N RS3742302 Irritible bowel syndrome:Triglycerides:Alzheimer's disease:Gene expression of USPL1 in peripheral blood monocytes:Gene expression of USPL1 in blood:Gene expression of ALOX5AP in blood:Age at death with kuru exposure:Sporadic Creutzfeldt-Jakob disease:Transmission distortion:Years of education:Advanced age-related macular degeneration (geographic atrophy)
13 32785086 2 FRY G A exonic synonymous SNV FRY:NM_023037:exon34:c.G4506A:p.E1502E
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 35615150 2 NBEA G A exonic synonymous SNV NBEA:NM_015678:exon2:c.G375A:p.L125L
13 35615256 2 NBEA G A exonic nonsynonymous SNV NBEA:NM_015678:exon2:c.G481A:p.E161K
13 35615296 2 NBEA T G exonic nonsynonymous SNV NBEA:NM_015678:exon2:c.T521G:p.I174R
13 35624491 2 NBEA G T exonic nonsynonymous SNV NBEA:NM_015678:exon6:c.G931T:p.G311C
13 35630188 2 NBEA G A exonic synonymous SNV NBEA:NM_015678:exon7:c.G1014A:p.R338R
13 35630202 2 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 40293428 1 COG6 T C exonic nonsynonymous SNV COG6:NM_001145079:exon14:c.T1340C:p.M447T,COG6:NM_020751:exon14:c.T1340C:p.M447T
13 41515286 1 ELF1 T A exonic nonsynonymous SNV ELF1:NM_001145353:exon7:c.A955T:p.T319S,ELF1:NM_172373:exon8:c.A1027T:p.T343S RS1056820 Advanced age-related macular degeneration (geographic atrophy)
13 41533052 1 ELF1 T C exonic nonsynonymous SNV ELF1:NM_001145353:exon2:c.A173G:p.N58S,ELF1:NM_172373:exon3:c.A173G:p.N58S RS7799 Simpson-Angus Scale:Autism:Obesity (body mass index (BMI)):Body mass index (BMI):Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration (geographic atrophy)
13 41705495 2 KBTBD6 A G exonic synonymous SNV KBTBD6:NM_152903:exon1:c.T1153C:p.L385L
13 41834744 1 MTRF1 C T exonic synonymous SNV MTRF1:NM_004294:exon2:c.G300A:p.E100E RS2297555 Childhood acute lymphoblastic leukemia:Cystatin C in serum:Gene expression of MTRF1 [transcript NM_004294, probe A_23_P37005] in liver
13 41902939 2 NAA16 T C exonic synonymous SNV NAA16:NM_001110798:exon7:c.T771C:p.N257N,NAA16:NM_018527:exon7:c.T771C:p.N257N,NAA16:NM_024561:exon7:c.T771C:p.N257N RS3812896 HOMA-B:College completion:Adiponectin levels
13 46067593 1 COG3 G A exonic synonymous SNV COG3:NM_031431:exon12:c.G1299A:p.E433E RS2985959 Urinary albumin-to-creatinine ratio
13 46103935 2 COG3 A G exonic nonsynonymous SNV COG3:NM_031431:exon21:c.A2240G:p.N747S RS2274285 Eye color:Rheumatoid arthritis
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 46629944 1 CPB2 A G exonic nonsynonymous SNV CPB2:NM_001278541:exon9:c.T929C:p.I310T,CPB2:NM_001872:exon10:c.T1040C:p.I347T RS1926447 Abnormal Involuntary Movement Scale:Venous thrombosis:Obsessive-compulsive disorder (OCD)
13 46641466 1 CPB2 A G exonic synonymous SNV CPB2:NM_001872:exon7:c.T678C:p.D226D RS9316179 Bipolar disorder:Abnormal Involuntary Movement Scale:Bipolar disorder:Sarcoidosis
13 46641481 1 CPB2 T C exonic synonymous SNV CPB2:NM_001872:exon7:c.A663G:p.P221P RS7337140 Abnormal Involuntary Movement Scale:HOMA-B:Acute lung injury following major trauma
13 46648094 1 CPB2 C T exonic nonsynonymous SNV CPB2:NM_001278541:exon6:c.G505A:p.A169T,CPB2:NM_001872:exon6:c.G505A:p.A169T RS3742264 Abnormal Involuntary Movement Scale:Sarcoidosis
13 47308109 2 LRCH1 A G exonic synonymous SNV LRCH1:NM_001164213:exon18:c.A1956G:p.A652A,LRCH1:NM_015116:exon18:c.A1956G:p.A652A,LRCH1:NM_001164211:exon19:c.A2061G:p.A687A
13 48547467 2 SUCLA2 A T exonic nonsynonymous SNV SUCLA2:NM_003850:exon5:c.T595A:p.S199T RS7320366 Simpson-Angus Scale:Total cholesterol:HDL cholesterol change with statins:Gene expression of SUCLA2 (probeID ILMN_2150019) in cerebellum in Alzheimer's disease cases and controls:Gene expression of SUCLA2 (probeID ILMN_2150019) in temporal cortex in Alzheimer's disease cases and controls
13 50080847 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 50092249 1 PHF11;SETDB2-PHF11 C T exonic synonymous SNV PHF11:NM_001040443:exon4:c.C420T:p.D140D,PHF11:NM_001040444:exon4:c.C303T:p.D101D,SETDB2-PHF11:NM_001320727:exon14:c.C1902T:p.D634D
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 50283819 1 KPNA3 T C exonic synonymous SNV KPNA3:NM_002267:exon12:c.A921G:p.A307A RS17073322 LDL cholesterol
13 50296115 2 KPNA3 C T exonic synonymous SNV KPNA3:NM_002267:exon9:c.G702A:p.P234P RS1127021 HDL cholesterol:Fat mass change (kg/y) in children
13 52343391 1 DHRS12 C T exonic nonsynonymous SNV DHRS12:NM_024705:exon8:c.G598A:p.G200R,DHRS12:NM_001270424:exon9:c.G745A:p.G249R RS10676 Asthma
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 52951797 2 THSD1 C T exonic nonsynonymous SNV THSD1:NM_199263:exon4:c.G2149A:p.V717I,THSD1:NM_018676:exon5:c.G2308A:p.V770I
13 52951826 2 THSD1 C G exonic nonsynonymous SNV THSD1:NM_199263:exon4:c.G2120C:p.R707P,THSD1:NM_018676:exon5:c.G2279C:p.R760P
13 52951858 2 THSD1 G T exonic synonymous SNV THSD1:NM_199263:exon4:c.C2088A:p.A696A,THSD1:NM_018676:exon5:c.C2247A:p.A749A
13 53035783 2 CKAP2 T C exonic synonymous SNV CKAP2:NM_001098525:exon4:c.T825C:p.T275T,CKAP2:NM_001286686:exon4:c.T678C:p.T226T,CKAP2:NM_001286687:exon4:c.T822C:p.T274T,CKAP2:NM_018204:exon4:c.T822C:p.T274T
13 53035925 2 CKAP2 A G exonic nonsynonymous SNV CKAP2:NM_001098525:exon4:c.A967G:p.I323V,CKAP2:NM_001286686:exon4:c.A820G:p.I274V,CKAP2:NM_001286687:exon4:c.A964G:p.I322V,CKAP2:NM_018204:exon4:c.A964G:p.I322V
13 73301728 1 MZT1 T C exonic nonsynonymous SNV MZT1:NM_001071775:exon1:c.A13G:p.S5G
13 75884216 2 TBC1D4 C T exonic nonsynonymous SNV TBC1D4:NM_001286659:exon12:c.G2266A:p.V756I,TBC1D4:NM_001286658:exon13:c.G2431A:p.V811I,TBC1D4:NM_014832:exon14:c.G2455A:p.V819I RS1062087 Partial epilepsy:Neuroblastoma (brain cancer):Late onset Alzheimer's disease:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
13 75936519 2 TBC1D4 C G exonic synonymous SNV TBC1D4:NM_001286658:exon2:c.G723C:p.G241G,TBC1D4:NM_001286659:exon2:c.G723C:p.G241G,TBC1D4:NM_014832:exon2:c.G723C:p.G241G
13 76055820 1 TBC1D4 G C exonic synonymous SNV TBC1D4:NM_001286658:exon1:c.C84G:p.P28P,TBC1D4:NM_001286659:exon1:c.C84G:p.P28P,TBC1D4:NM_014832:exon1:c.C84G:p.P28P RS7327548 Total cholesterol:LDL cholesterol
13 76378459 1 LMO7 T C exonic synonymous SNV LMO7:NM_001306080:exon8:c.T696C:p.F232F,LMO7:NM_005358:exon9:c.T852C:p.F284F RS625033 LDL cholesterol
13 76397731 1 LMO7 G A exonic nonsynonymous SNV LMO7:NM_015842:exon12:c.G1972A:p.V658I,LMO7:NM_001330583:exon13:c.G1972A:p.V658I,LMO7:NM_005358:exon14:c.G1825A:p.V609I,LMO7:NM_001306080:exon15:c.G2671A:p.V891I RS4884021 LDL cholesterol:Cystatin C in serum:Hypertension (early onset hypertension):Advanced age-related macular degeneration (geographic atrophy)
13 76409436 1 LMO7 A G exonic synonymous SNV LMO7:NM_015842:exon15:c.A2595G:p.L865L,LMO7:NM_001330583:exon16:c.A2595G:p.L865L,LMO7:NM_005358:exon17:c.A2448G:p.L816L,LMO7:NM_001306080:exon18:c.A3294G:p.L1098L RS2273997 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
13 76423248 2 LMO7 T C exonic nonsynonymous SNV LMO7:NM_015842:exon24:c.T3485C:p.M1162T,LMO7:NM_001330583:exon25:c.T3485C:p.M1162T,LMO7:NM_005358:exon26:c.T3338C:p.M1113T,LMO7:NM_001306080:exon27:c.T4184C:p.M1395T RS7986131 Eye color:Triglycerides:Late onset Alzheimer's disease:College completion:Years of education:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
13 76427347 1 LMO7 C A exonic nonsynonymous SNV LMO7:NM_015842:exon25:c.C3785A:p.P1262Q,LMO7:NM_001330583:exon26:c.C3785A:p.P1262Q,LMO7:NM_005358:exon27:c.C3638A:p.P1213Q,LMO7:NM_001306080:exon28:c.C4484A:p.P1495Q RS7988661 LDL cholesterol:Abnormal Involuntary Movement Scale:Parkinson's disease
13 76427403 1 LMO7 G A exonic nonsynonymous SNV LMO7:NM_015842:exon25:c.G3841A:p.V1281M,LMO7:NM_001330583:exon26:c.G3841A:p.V1281M,LMO7:NM_005358:exon27:c.G3694A:p.V1232M,LMO7:NM_001306080:exon28:c.G4540A:p.V1514M
13 76427410 1 LMO7 C G exonic nonsynonymous SNV LMO7:NM_015842:exon25:c.C3848G:p.P1283R,LMO7:NM_001330583:exon26:c.C3848G:p.P1283R,LMO7:NM_005358:exon27:c.C3701G:p.P1234R,LMO7:NM_001306080:exon28:c.C4547G:p.P1516R RS7988841 LDL cholesterol:Parkinson's disease
13 77632470 1 MYCBP2 C T exonic synonymous SNV MYCBP2:NM_015057:exon78:c.G13212A:p.E4404E
13 79940811 1 RBM26 T C exonic synonymous SNV RBM26:NM_001286631:exon7:c.A1092G:p.V364V,RBM26:NM_001286632:exon7:c.A1092G:p.V364V,RBM26:NM_022118:exon7:c.A1092G:p.V364V RS7327603 HDL cholesterol change with statins:Diastolic blood pressure (DBP):Advanced age-related macular degeneration
13 80911525 1 SPRY2 G A exonic nonsynonymous SNV SPRY2:NM_001318536:exon2:c.C316T:p.P106S,SPRY2:NM_001318537:exon2:c.C316T:p.P106S,SPRY2:NM_001318538:exon2:c.C316T:p.P106S,SPRY2:NM_005842:exon2:c.C316T:p.P106S RS504122 Abnormal Involuntary Movement Scale:Simpson-Angus Scale:Parkinson's disease (PD):Late onset Alzheimer's disease:Age at death with kuru exposure:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Adiponectin levels:Mitral annular calcium:Parkinson's disease
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 96506664 2 UGGT2 A G exonic synonymous SNV UGGT2:NM_020121:exon35:c.T4074C:p.T1358T RS11070154 Waist hip ratio:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
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 96555149 1 UGGT2 C T exonic nonsynonymous SNV UGGT2:NM_020121:exon21:c.G2461A:p.A821T RS33949518 Salmonella-induced pyroptosis
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 96638651 1 UGGT2 C T exonic nonsynonymous SNV UGGT2:NM_020121:exon9:c.G967A:p.A323T RS12863903 Cystatin C in serum:Gene expression of CXXC1 in peripheral blood monocytes:Gene expression of ATP5SL in peripheral blood monocytes:Gene expression of CHCHD9 in peripheral blood monocytes:Gene expression of PDCD5 in peripheral blood monocytes:Gene expression of LIMK1 in peripheral blood monocytes:Gene expression of ANAPC2 in peripheral blood monocytes:Gene expression of ATP5D in peripheral blood monocytes:Gene expression of LASP1 in peripheral blood monocytes:Gene expression of RBM22 in peripheral blood monocytes:Gene expression of TWIST1 in peripheral blood monocytes:Gene expression of MAN2C1 in peripheral blood monocytes:Gene expression of AMDHD2 in peripheral blood monocytes:Gene expression of TOLLIP in peripheral blood monocytes:Gene expression of RPL27 in peripheral blood monocytes:Gene expression of EIF4G1 in peripheral blood monocytes:Gene expression of ACADS in peripheral blood monocytes:Gene expression of NDUFS7 in peripheral blood monocytes:Gene expression of PRMT7 in peripheral blood monocytes:Gene expression of GAS7 in peripheral blood monocytes:Gene expression of ARF5 in peripheral blood monocytes:Gene expression of TWF2 in peripheral blood monocytes:Gene expression of EIF4H in peripheral blood monocytes:Gene expression of FTHL7 in peripheral blood monocytes:Gene expression of ARL6IP4 in peripheral blood monocytes:Gene expression of ORAI1 in peripheral blood monocytes:Gene expression of LSM2 in peripheral blood monocytes:Gene expression of TOMM7 in peripheral blood monocytes:Gene expression of PRDX5 in peripheral blood monocytes:Gene expression of GLTSCR1 in peripheral blood monocytes:Gene expression of PUF60 in peripheral blood monocytes:Gene expression of C1QL2 in peripheral blood monocytes:Gene expression of RPS19BP1 in peripheral blood monocytes:Gene expression of PPID in peripheral blood monocytes:Gene expression of RRAGA in peripheral blood monocytes:Gene expression of VEZF1 in peripheral blood monocytes:Gene expression of SREBF2 in peripheral blood monocytes:Gene expression of TXNIP in peripheral blood monocytes:Gene expression of TAOK2 in peripheral blood monocytes:Gene expression of PRIM2 in peripheral blood monocytes:Gene expression of ANKRD33 in peripheral blood monocytes:Gene expression of GPR132 in peripheral blood monocytes:Gene expression of STX10 in peripheral blood monocytes:Gene expression of CHP in peripheral blood monocytes:Gene expression of FBXW5 in peripheral blood monocytes:Gene expression of AP3B1 in peripheral blood monocytes:Gene expression of CIB1 in peripheral blood monocytes:Gene expression of ZNHIT1 in peripheral blood monocytes:Gene expression of PSME3 in peripheral blood monocytes:Gene expression of NFE2L1 in peripheral blood monocytes:Gene expression of BCAT2 in peripheral blood monocytes:Gene expression of EMP3 in peripheral blood monocytes:Gene expression of RNH1 in peripheral blood monocytes:Gene expression of USP7 in peripheral blood monocytes:Gene expression of LIN54 in peripheral blood monocytes:Gene expression of SLC25A3 in peripheral blood monocytes:Gene expression of NTHL1 in peripheral blood monocytes:Gene expression of KRIT1 in peripheral blood monocytes:Gene expression of RPS2 in peripheral blood monocytes:Gene expression of QTRT1 in peripheral blood monocytes:Gene expression of DCTN2 in peripheral blood monocytes:Gene expression of POLR3A in peripheral blood monocytes:Gene expression of PI4KAP2 in peripheral blood monocytes:Gene expression of GNB2L1 in peripheral blood monocytes:Gene expression of RXRA in peripheral blood monocytes:Gene expression of RALY in peripheral blood monocytes:Gene expression of TBCC in peripheral blood monocytes:Gene expression of TMEM184B in peripheral blood monocytes:Gene expression of ARF1 in peripheral blood monocytes:Gene expression of SHARPIN in peripheral blood monocytes:Gene expression of CAND2 in peripheral blood monocytes:Gene expression of PTGES2 in peripheral blood monocytes:Gene expression of GLT25D1 in peripheral blood monocytes:Gene expression of SSNA1 in peripheral blood monocytes:Gene expression of TCIRG1 in peripheral blood monocytes:Gene expression of CDIPT in peripheral blood monocytes:Gene expression of PI4KB in peripheral blood monocytes:Gene expression of MRPL41 in peripheral blood monocytes:Gene expression of PPP2R2A in peripheral blood monocytes:Gene expression of TNIP2 in peripheral blood monocytes:Gene expression of CDC37 in peripheral blood monocytes:Gene expression of BCL2L13 in peripheral blood monocytes:Gene expression of GTF3C2 in peripheral blood monocytes:Gene expression of PAF1 in peripheral blood monocytes:Gene expression of LONP1 in peripheral blood monocytes:Gene expression of CASP2 in peripheral blood monocytes:Gene expression of TOB1 in peripheral blood monocytes:Gene expression of ECHS1 in peripheral blood monocytes:Gene expression of SLC8A1 in peripheral blood monocytes:Gene expression of ACTB in peripheral blood monocytes:Gene expression of SNTA1 in peripheral blood monocytes:Gene expression of ARPC4 in peripheral blood monocytes:Gene expression of INPPL1 in peripheral blood monocytes:Gene expression of AQP6 in peripheral blood monocytes:Gene expression of ALDH16A1 in peripheral blood monocytes:Gene expression of GPX1 in peripheral blood monocytes:Gene expression of EXTL3 in peripheral blood monocytes:Gene expression of CDK2AP2 in peripheral blood monocytes:Gene expression of CCDC88B in peripheral blood monocytes:Gene expression of TMEM160 in peripheral blood monocytes:Gene expression of SLC9A4 in peripheral blood monocytes:Birth weight:Acute lung injury following major trauma
13 99100547 1 FARP1 T C exonic synonymous SNV FARP1:NM_005766:exon27:c.T3114C:p.S1038S,FARP1:NM_001286839:exon28:c.T3207C:p.S1069S RS12261 Spine bone mineral density (BMD):Total cholesterol:Suicide attempts in bipolar disorder:Gene expression of STK24 in blood:Parkinson's disease:College completion:Years of education:Salmonella-induced pyroptosis:Refractive error
13 99112680 2 STK24 C T exonic synonymous SNV STK24:NM_001286649:exon8:c.G1011A:p.P337P,STK24:NM_001032296:exon9:c.G1068A:p.P356P,STK24:NM_003576:exon9:c.G1104A:p.P368P
13 100518580 2 CLYBL A G exonic nonsynonymous SNV CLYBL:NM_206808:exon6:c.A721G:p.I241V RS3783185 Irritible bowel syndrome:Rheumatoid arthritis:Schizophrenia:Fasting blood glucose:Gene expression of CLYBL in peripheral blood monocytes:Gene expression of ZNF768 in peripheral blood monocytes:Gene expression of XPA in peripheral blood monocytes:Autism:Gene expression of CLYBL in blood:Birth weight:Primary rhegmatogenous retinal detachment
13 100543648 1 CLYBL C T exonic nonsynonymous SNV CLYBL:NM_206808:exon8:c.C1004T:p.T335I
13 101287340 1 TMTC4 C T exonic nonsynonymous SNV TMTC4:NM_001286453:exon8:c.G922A:p.V308I,TMTC4:NM_001079669:exon10:c.G1255A:p.V419I,TMTC4:NM_001350577:exon10:c.G1249A:p.V417I,TMTC4:NM_001350572:exon11:c.G1255A:p.V419I,TMTC4:NM_001350574:exon11:c.G1429A:p.V477I,TMTC4:NM_001350576:exon11:c.G1306A:p.V436I,TMTC4:NM_032813:exon11:c.G1312A:p.V438I,TMTC4:NM_001350571:exon12:c.G1486A:p.V496I RS946837 Gene expression of TMTC4 [probe 1554101_a_at] in lymphoblastoid cell lines:Gene expression of TMTC4 [probe 1554102_a_at] in lymphoblastoid cell lines:Longstanding arthritis:Gene expression of TMTC4 in CD4+ lymphocytes:Gene expression of TMTC4 in blood:Gene expression of TMTC4 [probeset 1554102_a_at] in sputum:Sporadic Creutzfeldt-Jakob disease:Gene expression of TMTC4 in normal prepouch ileum:Hypertension (early onset hypertension):Years of education
13 101287365 2 TMTC4 T C exonic synonymous SNV TMTC4:NM_001286453:exon8:c.A897G:p.A299A,TMTC4:NM_001079669:exon10:c.A1230G:p.A410A,TMTC4:NM_001350577:exon10:c.A1224G:p.A408A,TMTC4:NM_001350572:exon11:c.A1230G:p.A410A,TMTC4:NM_001350574:exon11:c.A1404G:p.A468A,TMTC4:NM_001350576:exon11:c.A1281G:p.A427A,TMTC4:NM_032813:exon11:c.A1287G:p.A429A,TMTC4:NM_001350571:exon12:c.A1461G:p.A487A RS946838 LDL cholesterol change with statins:Total cholesterol change with statins:Mitral annular calcium
13 103515288 1 BIVM-ERCC5;ERCC5 G C exonic nonsynonymous SNV ERCC5:NM_000123:exon8:c.G1789C:p.V597L,BIVM-ERCC5:NM_001204425:exon16:c.G3151C:p.V1051L
13 103527849 2 BIVM-ERCC5;ERCC5 G C exonic nonsynonymous SNV ERCC5:NM_000123:exon15:c.G3157C:p.G1053R,BIVM-ERCC5:NM_001204425:exon23:c.G4519C:p.G1507R
13 103527930 2 BIVM-ERCC5;ERCC5 G C exonic nonsynonymous SNV ERCC5:NM_000123:exon15:c.G3238C:p.G1080R,BIVM-ERCC5:NM_001204425:exon23:c.G4600C:p.G1534R
13 111176393 2 RAB20 A G exonic synonymous SNV RAB20:NM_017817:exon2:c.T324C:p.F108F RS419244 Hip bone mineral density (BMD):Spine bone mineral density (BMD):Premature ovarian failure:Fasting blood glucose:Body mass index (BMI):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):PROP taste detection threshold
13 111176519 2 RAB20 G T exonic synonymous SNV RAB20:NM_017817:exon2:c.C198A:p.G66G RS375814 Triglycerides:Triglycerides change with statins:Refractive error
13 111298392 1 CARS2 A G exonic synonymous SNV CARS2:NM_024537:exon12:c.T1239C:p.D413D RS436462 Differential exon level expression of CARS2 [probe 3525564] in brain cortex:Differential exon level expression of CARS2 [probe 3525564] in peripheral blood mononuclear cells:Gene expression of CARS2 [probe 3525538] in peripheral blood mononuclear cells
13 111319754 1 CARS2 T C exonic synonymous SNV CARS2:NM_024537:exon8:c.A852G:p.E284E
13 111340342 1 CARS2 G A exonic synonymous SNV CARS2:NM_024537:exon4:c.C417T:p.L139L RS2304767 Differential exon level expression of CARS2 [probe 3525598] in brain cortex:Gene expression of RP11-90L1.3 in blood:Age at death with kuru exposure:Maternal transmission distortion:Transmission distortion
13 113140349 1 TUBGCP3 A G exonic synonymous SNV TUBGCP3:NM_001286277:exon22:c.T2652C:p.R884R,TUBGCP3:NM_006322:exon22:c.T2682C:p.R894R
13 113479813 1 ATP11A G A exonic synonymous SNV ATP11A:NM_015205:exon11:c.G942A:p.L314L,ATP11A:NM_032189:exon11:c.G942A:p.L314L
13 113479820 1 ATP11A A G exonic nonsynonymous SNV ATP11A:NM_015205:exon11:c.A949G:p.M317V,ATP11A:NM_032189:exon11:c.A949G:p.M317V RS368865 Eye color:Stabilized warfarin dose:Rheumatoid arthritis:Triglycerides change with statins:Total cholesterol change with statins:Maternal transmission distortion:Transmission distortion
13 113748913 1 MCF2L C T exonic synonymous SNV MCF2L:NM_001112732:exon27:c.C3039T:p.D1013D,MCF2L:NM_001320816:exon27:c.C3051T:p.D1017D,MCF2L:NM_024979:exon27:c.C3033T:p.D1011D,MCF2L:NM_001320815:exon28:c.C3108T:p.D1036D
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 113818900 2 PROZ A G exonic synonymous SNV PROZ:NM_003891:exon5:c.A447G:p.T149T,PROZ:NM_001256134:exon6:c.A513G:p.T171T
13 113965176 2 LAMP1 C A exonic synonymous SNV LAMP1:NM_005561:exon4:c.C556A:p.R186R RS9577503 Cystatin C in serum
13 113976709 1 LAMP1 G C exonic nonsynonymous SNV LAMP1:NM_005561:exon9:c.G1227C:p.R409S
13 115002305 1 CDC16 G A exonic synonymous SNV CDC16:NM_001078645:exon3:c.G135A:p.Q45Q,CDC16:NM_001318517:exon3:c.G132A:p.Q44Q,CDC16:NM_001318518:exon3:c.G132A:p.Q44Q,CDC16:NM_001330101:exon3:c.G132A:p.Q44Q,CDC16:NM_003903:exon3:c.G135A:p.Q45Q
13 115004914 2 CDC16 C T exonic synonymous SNV CDC16:NM_001330104:exon4:c.C48T:p.D16D,CDC16:NM_001330105:exon4:c.C48T:p.D16D,CDC16:NM_001078645:exon5:c.C330T:p.D110D,CDC16:NM_001318517:exon5:c.C327T:p.D109D,CDC16:NM_001318518:exon5:c.C327T:p.D109D,CDC16:NM_001330101:exon5:c.C327T:p.D109D,CDC16:NM_003903:exon5:c.C330T:p.D110D RS2296971 Gene expression of CDC16 in normal prepouch ileum
13 115004935 2 CDC16 T C exonic synonymous SNV CDC16:NM_001330104:exon4:c.T69C:p.P23P,CDC16:NM_001330105:exon4:c.T69C:p.P23P,CDC16:NM_001078645:exon5:c.T351C:p.P117P,CDC16:NM_001318517:exon5:c.T348C:p.P116P,CDC16:NM_001318518:exon5:c.T348C:p.P116P,CDC16:NM_001330101:exon5:c.T348C:p.P116P,CDC16:NM_003903:exon5:c.T351C:p.P117P RS2296970 Gene expression of UPF3A (ENSG00000169062) in dendritic cells:Gene expression of CDC16 in normal prepouch ileum
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 21993498 2 SALL2 G A exonic nonsynonymous SNV SALL2:NM_001291446:exon2:c.C364T:p.P122S,SALL2:NM_001291447:exon2:c.C358T:p.P120S,SALL2:NM_005407:exon2:c.C364T:p.P122S RS1263811 Partial epilepsy:Pulse rate:Gene expression of CHD8 (ENSG00000100888) in dendritic cells
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 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 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 24653523 2 IPO4 G C exonic nonsynonymous SNV IPO4:NM_024658:exon17:c.C1738G:p.P580A RS11550452 Cystatin C in serum
14 24653954 2 IPO4 G A exonic nonsynonymous SNV IPO4:NM_024658:exon16:c.C1538T:p.A513V RS7146310 Differential exon level expression of IPO4 [probe 3557872] in peripheral blood mononuclear cells:Spatial working memory strategy:Triglycerides change with statins:Triglycerides change with statins:Autism:Autism with low IQ:Height:Neuroblastoma (brain cancer):Gene expression of REC8 [transcript NM_001048205, probe A_24_P344087] in liver:Gene expression of IRF9 in blood:Gene expression of REC8///IPO4 in blood:Gene expression of TM9SF1 (probeID ILMN_2253300) in cerebellum in Alzheimer's disease cases and controls:Gene expression of TM9SF1 (probeID ILMN_2253300) in temporal cortex in Alzheimer's disease cases and controls:College completion:Years of education:Tetrology of fallot
14 24654489 2 IPO4 T C exonic synonymous SNV IPO4:NM_024658:exon14:c.A1308G:p.V436V RS2025258 Differential exon level expression of IPO4 [probe 3557872] in peripheral blood mononuclear cells:Total cholesterol:LDL cholesterol:Height:Neuroblastoma (brain cancer):Birth weight:Tetrology of fallot:College completion:Years of education
14 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 31582380 2 HECTD1 A G exonic nonsynonymous SNV HECTD1:NM_015382:exon34:c.T6080C:p.L2027P
14 31819047 2 HEATR5A C T exonic nonsynonymous SNV HEATR5A:NM_015473:exon18:c.G2656A:p.V886M RS3736918 Mitral annular calcium:College completion
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 34985645 2 EAPP G A exonic synonymous SNV EAPP:NM_018453:exon6:c.C729T:p.A243A RS7797 Gene expression of EAPP in lymphoblastoid cell lines:Hip bone mineral density (BMD):Spine bone mineral density (BMD):Rheumatoid arthritis:Differential exon level expression of EAPP [probe 3560584] in peripheral blood mononuclear cells:Differential exon level expression of EAPP [probe 3560579] in peripheral blood mononuclear cells:Methylation levels at chr14:34079193-34079243 [hg18 coord, probe cg24276491] in Cerebellum:Methylation levels at chr14:34169796-34169846 [hg18 coord, probe cg17346022] in Temporal cortex:Methylation levels at chr14:34169796-34169846 [hg18 coord, probe cg17346022] in Frontal cortex:Gene expression of C14orf11 [probe ILMN_1031] in untreated osteoblasts:Gene expression of C14orf11 [probe ILMN_1031] in osteoblasts treated with dexamethasone:Gene expression of EAPP in blood:Gene expression of [probe 2120500 centered at chr14:34090490] in blood:Comorbid depressive syndrome and alcohol dependence
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 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 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 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 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 50583083 2 VCPKMT G T exonic nonsynonymous SNV VCPKMT:NM_001040662:exon1:c.C188A:p.A63D,VCPKMT:NM_024558:exon1:c.C188A:p.A63D
14 50585248 2 SOS2 C T exonic synonymous SNV SOS2:NM_006939:exon23:c.G3813A:p.P1271P RS2227276 Psoriasis:Microalbuminuria:Variant Creutzfeldt-Jakob disease:Gene expression of METTL21D in normal prepouch ileum
14 50769717 2 L2HGDH G A exonic synonymous SNV L2HGDH:NM_024884:exon2:c.C159T:p.I53I RS2297995 Methylation levels at chr14:49849865-49849915 [hg18 coord, probe cg15996947] in Temporal cortex:Gene expression of CDKL1 (probeID ILMN_1724183) in cerebellum in Alzheimer's disease cases and controls:Gene expression of L2HGDH in normal prepouch ileum:Gene expression of CDKL1 (probeID ILMN_1724183) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
14 50788213 2 ATP5S C T exonic nonsynonymous SNV ATP5S:NM_001003803:exon2:c.C53T:p.P18L,ATP5S:NM_001003805:exon2:c.C53T:p.P18L,ATP5S:NM_015684:exon2:c.C53T:p.P18L RS2275592 HOMA-B:Gene expression of CDKL1 (probeID ILMN_1724183) in cerebellum in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of CDKL1 (probeID ILMN_1724183) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of L2HGDH in normal prepouch ileum
14 51057727 2 ATL1 G A exonic synonymous SNV ATL1:NM_015915:exon3:c.G351A:p.E117E,ATL1:NM_181598:exon3:c.G351A:p.E117E,ATL1:NM_001127713:exon4:c.G351A:p.E117E RS1060197 Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Parkinson's disease
14 51132024 2 SAV1 T C exonic synonymous SNV SAV1:NM_021818:exon2:c.A408G:p.S136S
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 52186972 2 FRMD6 A G exonic synonymous SNV FRMD6:NM_001267047:exon2:c.A150G:p.P50P,FRMD6:NM_001267046:exon11:c.A1224G:p.P408P,FRMD6:NM_152330:exon11:c.A1200G:p.P400P,FRMD6:NM_001042481:exon12:c.A1200G:p.P400P RS2277494 Total cholesterol:Gene expression of FRMD6 (probeID ILMN_1769282) in temporal cortex in Alzheimer's disease cases:Gene expression of FRMD6 (probeID ILMN_1769282) in temporal cortex in non-Alzheimer's disease samples:Gene expression of FRMD6 (probeID ILMN_1769282) in cerebellum in Alzheimer's disease cases and controls:Gene expression of FRMD6 (probeID ILMN_1769282) in cerebellum in Alzheimer's disease cases:Gene expression of FRMD6 (probeID ILMN_1769282) in cerebellum in non-Alzheimer's disease samples:Gene expression of FRMD6 (probeID ILMN_1769282) in temporal cortex in Alzheimer's disease cases and controls
14 52906081 2 TXNDC16 T G exonic synonymous SNV TXNDC16:NM_001160047:exon20:c.A2020C:p.R674R,TXNDC16:NM_020784:exon20:c.A2035C:p.R679R RS2249922 Barnes Akathisia Rating Scale:HDL cholesterol:Serum creatinine:Lp-PLA2 activity:Gene expression of ERO1L in peripheral blood monocytes:Triglycerides:Paternal transmission distortion
14 52907353 2 TXNDC16 C T exonic synonymous SNV TXNDC16:NM_001160047:exon19:c.G1917A:p.Q639Q,TXNDC16:NM_020784:exon19:c.G1932A:p.Q644Q RS1952254 HDL cholesterol:Serum creatinine:Triglycerides
14 53345378 2 FERMT2 G A exonic synonymous SNV FERMT2:NM_001134999:exon7:c.C885T:p.Y295Y,FERMT2:NM_001135000:exon7:c.C885T:p.Y295Y,FERMT2:NM_006832:exon7:c.C885T:p.Y295Y RS2357947 Major depressive disorder:HOMA-IR:Fasting insulin:HOMA-B:Body mass index (BMI):Systolic blood pressure (SBP):Bipolar disorder
14 54417522 2 BMP4 A G exonic nonsynonymous SNV BMP4:NM_001347914:exon3:c.T455C:p.V152A,BMP4:NM_001347915:exon3:c.T266C:p.V89A,BMP4:NM_001202:exon4:c.T455C:p.V152A,BMP4:NM_001347912:exon4:c.T596C:p.V199A,BMP4:NM_001347913:exon4:c.T266C:p.V89A,BMP4:NM_001347916:exon4:c.T455C:p.V152A,BMP4:NM_001347917:exon4:c.T266C:p.V89A,BMP4:NM_130850:exon4:c.T455C:p.V152A,BMP4:NM_130851:exon4:c.T455C:p.V152A RS17563 Cystatin C in serum:Serum creatinine:Gene expression of BMP4 in Cerebellum:Alcohol dependence symptoms:Comorbid depressive syndrome and alcohol dependence:Gene expression of MPP3 (probeID ILMN_1724754) in breast tumors:Myopia:Number of permanent teeth between ages 6 and 14 years old
14 55241810 2 SAMD4A G A exonic nonsynonymous SNV SAMD4A:NM_001161577:exon5:c.G647A:p.R216H,SAMD4A:NM_001161576:exon8:c.G1610A:p.R537H,SAMD4A:NM_015589:exon9:c.G1874A:p.R625H
14 55604935 2 LGALS3 C A exonic nonsynonymous SNV LGALS3:NM_001177388:exon3:c.C191A:p.P64H,LGALS3:NM_002306:exon3:c.C191A:p.P64H RS4644 Circulating galectin-3 levels:LGALS3 gene expression levels:Advanced age-related macular degeneration (geographic atrophy)
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 57052511 2 TMEM260 G T exonic synonymous SNV TMEM260:NM_017799:exon3:c.G225T:p.T75T
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 58831142 2 ARID4A A G exonic nonsynonymous SNV ARID4A:NM_002892:exon20:c.A2335G:p.T779A,ARID4A:NM_023000:exon20:c.A2335G:p.T779A,ARID4A:NM_023001:exon20:c.A2335G:p.T779A RS1051858 Gene expression of ARID4A in blood:Comorbid depressive syndrome and alcohol dependence
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 58955385 2 KIAA0586 C T exonic nonsynonymous SNV KIAA0586:NM_001244193:exon21:c.C3154T:p.P1052S,KIAA0586:NM_014749:exon23:c.C3346T:p.P1116S,KIAA0586:NM_001244191:exon24:c.C3319T:p.P1107S,KIAA0586:NM_001329943:exon24:c.C3574T:p.P1192S,KIAA0586:NM_001329944:exon24:c.C3574T:p.P1192S,KIAA0586:NM_001329945:exon24:c.C3319T:p.P1107S,KIAA0586:NM_001329946:exon24:c.C3574T:p.P1192S,KIAA0586:NM_001329947:exon24:c.C3574T:p.P1192S,KIAA0586:NM_001244190:exon25:c.C3529T:p.P1177S,KIAA0586:NM_001244192:exon25:c.C3442T:p.P1148S,KIAA0586:NM_001244189:exon26:c.C3733T:p.P1245S
14 59797235 2 DAAM1 A G exonic synonymous SNV DAAM1:NM_014992:exon12:c.A1389G:p.Q463Q,DAAM1:NM_001270520:exon13:c.A1389G:p.Q463Q RS941884 Triglycerides:Triglycerides change with statins:Total cholesterol:Height:Waist hip ratio
14 59939727 2 L3HYPDH T C exonic nonsynonymous SNV L3HYPDH:NM_001331158:exon5:c.A508G:p.I170V,L3HYPDH:NM_001331159:exon5:c.A508G:p.I170V,L3HYPDH:NM_144581:exon5:c.A1021G:p.I341V RS8660 Gene expression of C14orf149 [probe 3566949] in peripheral blood mononuclear cells:Gene expression of C14orf100 probe [GI_21361536-S] in brain cortex with no Alzheimer's interaction:Premature ovarian failure:Gene expression of UBTD2 in peripheral blood monocytes:Gene expression of DAAM1 in blood:Variant Creutzfeldt-Jakob disease:Parkinson's disease:Gene expression of C14orf149 (probeID ILMN_2053281) in cerebellum in Alzheimer's disease cases:Gene expression of C14orf149 (probeID ILMN_2053281) in temporal cortex in Alzheimer's disease cases:Gene expression of C14orf149 (probeID ILMN_2053281) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of C14orf149 (probeID ILMN_2053281) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of C14orf149 (probeID ILMN_2053281) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of C14orf149 (probeID ILMN_2053281) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C14orf149 (probeID ILMN_2053281) in cerebellum in non-Alzheimer's disease samples:Gene expression of GPR135 in normal prepouch ileum:Gene expression of C14orf38 in normal prepouch ileum:Obsessive-compulsive disorder (OCD)
14 59950676 2 L3HYPDH A C exonic nonsynonymous SNV L3HYPDH:NM_001331164:exon1:c.T359G:p.L120R,L3HYPDH:NM_144581:exon1:c.T359G:p.L120R
14 59950690 2 L3HYPDH A C exonic synonymous SNV L3HYPDH:NM_001331164:exon1:c.T345G:p.A115A,L3HYPDH:NM_144581:exon1:c.T345G:p.A115A RS2296842 Gene expression of C14orf100 in CEU-CHB-JPT lymphoblastoid cell lines:Height:Adiponectin levels
14 60581863 2 PCNX4 G A exonic synonymous SNV PCNX4:NM_022495:exon3:c.G339A:p.P113P,PCNX4:NM_001330177:exon4:c.G1041A:p.P347P RS219314 Triglycerides change with statins:Aortic valve calcium:Obesity with early age of onset (age >2):Gene expression of DHRS7 in normal prepouch ileum
14 60581935 2 PCNX4 C T exonic synonymous SNV PCNX4:NM_022495:exon3:c.C411T:p.S137S,PCNX4:NM_001330177:exon4:c.C1113T:p.S371S RS150687 Triglycerides change with statins:PROP taste detection threshold:Aortic valve calcium:Obesity with early age of onset (age >2):Gene expression of DHRS7 in normal prepouch ileum
14 60582053 2 PCNX4 G A exonic nonsynonymous SNV PCNX4:NM_022495:exon3:c.G529A:p.V177I,PCNX4:NM_001330177:exon4:c.G1231A:p.V411I RS150688 Triglycerides change with statins:Gene expression of C14orf135 (ENSG00000126773) in dendritic cells:Gene expression of DHRS7 in normal prepouch ileum
14 61180657 2 SIX4 T G exonic nonsynonymous SNV SIX4:NM_017420:exon3:c.A1814C:p.H605P RS3742636 Total cholesterol change with statins:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Birth weight:Prostate cancer:Parkinson's disease:Prostate cancer (non-advanced prostate cancer)
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 61449328 2 SLC38A6 T A exonic nonsynonymous SNV SLC38A6:NM_001172702:exon2:c.T208A:p.L70M,SLC38A6:NM_153811:exon2:c.T208A:p.L70M RS976272 HDL cholesterol:Abnormal Involuntary Movement Scale
14 61509924 2 SLC38A6 T C exonic synonymous SNV SLC38A6:NM_001172702:exon9:c.T684C:p.G228G,SLC38A6:NM_153811:exon9:c.T684C:p.G228G RS2296921 Asthma
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 68257352 2 ZFYVE26 T A exonic nonsynonymous SNV ZFYVE26:NM_015346:exon15:c.A2692T:p.T898S RS17192170 LDL cholesterol:Barnes Akathisia Rating Scale:Fasting blood glucose:HDL cholesterol
14 68264867 2 ZFYVE26 A G exonic synonymous SNV ZFYVE26:NM_015346:exon11:c.T2112C:p.P704P RS12891164 HDL cholesterol:2 hour glucose:Total cholesterol:Height
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 71109153 2 TTC9 C G exonic nonsynonymous SNV TTC9:NM_015351:exon1:c.C307G:p.P103A
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 74196581 2 ELMSAN1 G A exonic synonymous SNV ELMSAN1:NM_001043318:exon4:c.C1857T:p.I619I,ELMSAN1:NM_194278:exon4:c.C1857T:p.I619I
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 75279395 2 YLPM1 T A exonic synonymous SNV YLPM1:NM_019589:exon11:c.T5412A:p.P1804P RS2302834 Triglycerides:Lung function, ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):HOMA-IR:Triglycerides:Height:Parkinson's disease
14 75483812 2 MLH3 T C exonic synonymous SNV MLH3:NM_014381:exon12:c.A4263G:p.Q1421Q,MLH3:NM_001040108:exon13:c.A4335G:p.Q1445Q RS13712 Gene expression of MLH3 [probe 204838_s_at] in lymphoblastoid cell lines:HOMA-IR:Fasting blood glucose:Total cholesterol change with statins:Height:Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration:Gene expression of MLH3 (probeID ILMN_1693107) in cerebellum in Alzheimer's disease cases and controls:Gene expression of EIF2B2 (ENSG00000119718) in dendritic cells:Gene expression of MLH3 (probeID ILMN_1693107) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of RPS6KL1 (ENSG00000198208) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression change of RPS6KL1 (ENSG00000198208) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of MLH3 (probeID ILMN_2282282) in cerebellum in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Years of education:Gene expression of MLH3 (probeID ILMN_2282282) in temporal cortex in Alzheimer's disease cases and controls:Parkinson's disease
14 75513883 2 MLH3 T C exonic nonsynonymous SNV MLH3:NM_001040108:exon2:c.A2476G:p.N826D,MLH3:NM_014381:exon2:c.A2476G:p.N826D
14 75537381 2 ZC2HC1C C T exonic synonymous SNV ZC2HC1C:NM_001042430:exon2:c.C105T:p.Y35Y,ZC2HC1C:NM_001330191:exon2:c.C105T:p.Y35Y,ZC2HC1C:NM_024643:exon2:c.C105T:p.Y35Y
14 75538217 2 ZC2HC1C G T exonic nonsynonymous SNV ZC2HC1C:NM_001330191:exon2:c.G941T:p.G314V,ZC2HC1C:NM_024643:exon2:c.G941T:p.G314V RS3742778 Gene expression of MLH3 [probe 204838_s_at] in lymphoblastoid cell lines:Neuroticism:Total cholesterol change with statins:Lp-PLA2 mass:Gene expression of EIF2B2 in peripheral blood monocytes:Gene expression of MLH3 in peripheral blood monocytes:Height:Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Years of education:Decrease in FEV1 (in nonasthmatic participants):Parkinson's disease:Advanced age-related macular degeneration
14 75574087 2 NEK9 C T exonic nonsynonymous SNV NEK9:NM_001329237:exon11:c.G1286A:p.R429H,NEK9:NM_001329238:exon11:c.G932A:p.R311H,NEK9:NM_033116:exon11:c.G1286A:p.R429H RS10146482 Gene expression of MLH3 [probe 204838_s_at] in lymphoblastoid cell lines:Spine bone mineral density (BMD):Gene expression of Contig35424_RC in liver:Gene expression of EIF2B2 in blood cells in Celiac disease:Gene expression of EIF2B2 [probe 3544387] in peripheral blood mononuclear cells:Gene expression of EIF2B2 [probe ILMN_21744] in osteoblasts:Total cholesterol change with statins:Lp-PLA2 mass:Gene expression of MLH3 in peripheral blood monocytes:Gene expression of EIF2B2 in peripheral blood monocytes:Gene expression of ACYP1 in CD4+ lymphocytes:Height:Gene expression of EIF2B2 in blood:Gene expression of MLH3 in blood:Gene expression of ACYP1 in blood:Comorbid depressive syndrome and alcohol dependence:Hypertension (early onset hypertension):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Parkinson's disease:Maternal transmission distortion:Transmission distortion:Advanced age-related macular degeneration:Years of education
14 75590822 2 NEK9 G A exonic synonymous SNV NEK9:NM_001329237:exon2:c.C324T:p.H108H,NEK9:NM_033116:exon2:c.C324T:p.H108H RS8017642 Total cholesterol change with statins:Height:Years of education:Parkinson's disease:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
14 76045362 2 FLVCR2 T C exonic nonsynonymous SNV FLVCR2:NM_017791:exon1:c.T47C:p.V16A RS2287015 Gene expression of FLVCR2 in blood
14 76045858 2 FLVCR2 G A exonic synonymous SNV FLVCR2:NM_017791:exon1:c.G543A:p.V181V RS2287016 C5-M-DC:C5-M-DC / C18:1-OH:Gene expression of FLVCR2 in peripheral blood monocytes
14 77493647 2 IRF2BPL A G exonic synonymous SNV IRF2BPL:NM_024496:exon1:c.T489C:p.A163A
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 77793207 2 GSTZ1 G A exonic nonsynonymous SNV GSTZ1:NM_145870:exon3:c.G94A:p.E32K,GSTZ1:NM_145871:exon3:c.G94A:p.E32K
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 77951124 2 ISM2 C T exonic nonsynonymous SNV ISM2:NM_182509:exon2:c.G280A:p.A94T,ISM2:NM_199296:exon2:c.G280A:p.A94T RS3742728 Spine bone mineral density (BMD):Alzheimer's disease:HOMA-IR:Fasting blood glucose:Waist hip ratio:Gene expression of SPTLC2 in blood
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 90730071 2 PSMC1 C T exonic synonymous SNV PSMC1:NM_002802:exon5:c.C345T:p.I115I,PSMC1:NM_001330212:exon6:c.C126T:p.I42I
14 91739081 2 CCDC88C A G exonic nonsynonymous SNV CCDC88C:NM_001080414:exon30:c.T5975C:p.L1992P RS941920 Chemosensitivity to targeted regimes in metastatic colorectal cancer (Bevacizumab+5-FU/leucovorin+oxaliplatin regime):Urinary albumin-to-creatinine ratio:Resistance to kuru in aged women despite likely exposure:Sporadic Creutzfeldt-Jakob disease:Paternal transmission distortion
14 93118038 2 RIN3 A G exonic nonsynonymous SNV RIN3:NM_001319987:exon5:c.A419G:p.H140R,RIN3:NM_024832:exon6:c.A644G:p.H215R RS3829947 LDL cholesterol:HDL cholesterol change with statins:Chronic kidney disease:Aortic valve calcium
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 93276654 2 GOLGA5 T C exonic nonsynonymous SNV GOLGA5:NM_005113:exon5:c.T1048C:p.F350L RS1040835 HDL cholesterol:Waist hip ratio
14 94524216 2 DDX24 T C exonic synonymous SNV DDX24:NM_020414:exon6:c.A1941G:p.A647A
14 94756794 2 SERPINA10 T C exonic nonsynonymous SNV SERPINA10:NM_001100607:exon2:c.A137G:p.K46R,SERPINA10:NM_016186:exon2:c.A137G:p.K46R RS941590 Cystatin C in serum:Mitral annular calcium:College completion:Years of education
14 94776221 2 SERPINA6 A C exonic nonsynonymous SNV SERPINA6:NM_001756:exon3:c.T736G:p.S246A
14 94912799 2 SERPINA11 G A exonic synonymous SNV SERPINA11:NM_001080451:exon3:c.C786T:p.T262T
14 94912896 2 SERPINA11 T G exonic nonsynonymous SNV SERPINA11:NM_001080451:exon3:c.A689C:p.E230A RS1885137 Longstanding arthritis
14 95029852 2 SERPINA4 G T exonic synonymous SNV SERPINA4:NM_001289032:exon2:c.G144T:p.L48L,SERPINA4:NM_001289033:exon2:c.G33T:p.L11L,SERPINA4:NM_006215:exon2:c.G33T:p.L11L
14 95906321 2 SYNE3 G A exonic nonsynonymous SNV SYNE3:NM_152592:exon11:c.C2003T:p.T668M RS9671369 Height:Resistance to kuru in aged women despite likely exposure:Sporadic Creutzfeldt-Jakob disease:Gene expression of C14orf49 (ENSG00000176438) in dendritic cells treated with Mycobacterium tuberculosis
14 96010424 2 GLRX5 G A exonic nonsynonymous SNV GLRX5:NM_016417:exon2:c.G436A:p.A146T
14 100759046 2 SLC25A29 C A exonic synonymous SNV SLC25A29:NM_152333:exon3:c.G288T:p.T96T,SLC25A29:NM_001039355:exon4:c.G486T:p.T162T,SLC25A29:NM_001291813:exon5:c.G288T:p.T96T,SLC25A29:NM_001291814:exon5:c.G288T:p.T96T
14 100759277 2 SLC25A29 C T exonic synonymous SNV SLC25A29:NM_152333:exon3:c.G57A:p.R19R,SLC25A29:NM_001039355:exon4:c.G255A:p.R85R,SLC25A29:NM_001291813:exon5:c.G57A:p.R19R,SLC25A29:NM_001291814:exon5:c.G57A:p.R19R
14 100808845 2 WARS G A exonic synonymous SNV WARS:NM_213645:exon8:c.C880T:p.L294L,WARS:NM_213646:exon8:c.C880T:p.L294L,WARS:NM_004184:exon9:c.C1003T:p.L335L,WARS:NM_173701:exon9:c.C1003T:p.L335L RS9453 Triglycerides:Fasting blood glucose:Triglycerides:HDL cholesterol:Gene expression of WARS (probeID ILMN_1727271) in whole blood:Coronary artery disease (CAD):Gene expression of WDR25 in normal prepouch ileum
14 100847523 2 WDR25 T C exonic nonsynonymous SNV WDR25:NM_001161476:exon2:c.T262C:p.W88R,WDR25:NM_001350947:exon2:c.T262C:p.W88R,WDR25:NM_001350948:exon2:c.T262C:p.W88R,WDR25:NM_024515:exon2:c.T262C:p.W88R
14 100996312 2 WDR25 T C exonic synonymous SNV WDR25:NM_001350950:exon6:c.T795C:p.Y265Y,WDR25:NM_001161476:exon7:c.T1569C:p.Y523Y,WDR25:NM_001350947:exon7:c.T1569C:p.Y523Y,WDR25:NM_001350948:exon7:c.T1569C:p.Y523Y,WDR25:NM_001350949:exon7:c.T819C:p.Y273Y,WDR25:NM_024515:exon7:c.T1569C:p.Y523Y
14 101198417 2 DLK1 A G exonic nonsynonymous SNV DLK1:NM_001317172:exon4:c.A301G:p.R101G,DLK1:NM_003836:exon4:c.A301G:p.R101G
14 102463407 2 DYNC1H1 A G exonic synonymous SNV DYNC1H1:NM_001376:exon16:c.A3600G:p.Q1200Q
14 102493761 2 DYNC1H1 A G exonic synonymous SNV DYNC1H1:NM_001376:exon46:c.A8928G:p.L2976L RS8010870 LDL cholesterol:2 hour glucose:Body mass index (BMI)
14 102504838 2 DYNC1H1 C T exonic synonymous SNV DYNC1H1:NM_001376:exon58:c.C10950T:p.N3650N
14 102514227 2 DYNC1H1 T C exonic synonymous SNV DYNC1H1:NM_001376:exon73:c.T13080C:p.T4360T RS13749 Total cholesterol change with statins:Gene expression of HSP90AA1 in blood:Gene expression of WDR20 in blood:Sporadic Creutzfeldt-Jakob disease
14 102675350 2 WDR20 G C exonic synonymous SNV WDR20:NM_001242416:exon2:c.G660C:p.G220G,WDR20:NM_181308:exon2:c.G660C:p.G220G,WDR20:NM_001242418:exon3:c.G879C:p.G293G,WDR20:NM_144574:exon3:c.G843C:p.G281G,WDR20:NM_181291:exon3:c.G843C:p.G281G,WDR20:NM_001242417:exon4:c.G936C:p.G312G,WDR20:NM_001330228:exon4:c.G936C:p.G312G RS6575900 LDL cholesterol:2 hour glucose:Infant head circumference
14 102792386 2 ZNF839 T C exonic nonsynonymous SNV ZNF839:NM_001267827:exon2:c.T5C:p.L2P,ZNF839:NM_001267828:exon2:c.T5C:p.L2P,ZNF839:NM_018335:exon2:c.T353C:p.L118P RS7158731 HDL cholesterol:Premature ovarian failure:2 hour glucose:Fasting blood glucose:Serum creatinine:Total cholesterol change with statins:Amyotrophic lateral sclerosis (ALS):Height:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Gene expression of HSP90AA1 in blood:Gene expression of ANKRD9 in blood:Gene expression of ZNF839 in blood:Bipolar disorder:Sporadic Creutzfeldt-Jakob disease
14 102792631 2 ZNF839 G A exonic nonsynonymous SNV ZNF839:NM_001267827:exon2:c.G250A:p.D84N,ZNF839:NM_001267828:exon2:c.G250A:p.D84N,ZNF839:NM_018335:exon2:c.G598A:p.D200N RS7158139 2 hour glucose:Fasting blood glucose:Total cholesterol change with statins:Height:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Bipolar disorder
14 103566785 2 EXOC3L4 C T exonic nonsynonymous SNV EXOC3L4:NM_001077594:exon1:c.C229T:p.R77W RS2297067 LDL cholesterol:Fasting blood glucose:Total cholesterol:Gene expression of ZNF702 in peripheral blood monocytes:Waist hip ratio:Primary biliary cirrhosis:Gamma-glutamyl transferase (GGT):Serum gamma-glutamyl transferase (GGT) activity (in adults):Serum gamma-glutamyl transferase (GGT) activity (in adolescents):Platelet count (PLT)
14 103566835 2 EXOC3L4 C G exonic nonsynonymous SNV EXOC3L4:NM_001077594:exon1:c.C279G:p.D93E
14 103568614 2 EXOC3L4 T A exonic nonsynonymous SNV EXOC3L4:NM_001077594:exon2:c.T554A:p.L185H RS10131298 Microalbuminuria:Urinary albumin-to-creatinine ratio:Gamma-glutamyl transferase (GGT):Serum gamma-glutamyl transferase (GGT) activity (in adults):Serum gamma-glutamyl transferase (GGT) activity (in adolescents)
14 103568729 2 EXOC3L4 A G exonic synonymous SNV EXOC3L4:NM_001077594:exon2:c.A669G:p.E223E
14 103568981 2 EXOC3L4 A C exonic synonymous SNV EXOC3L4:NM_001077594:exon2:c.A921C:p.P307P
14 103576415 2 EXOC3L4 A G exonic nonsynonymous SNV EXOC3L4:NM_001077594:exon11:c.A2024G:p.Q675R RS729184 Gene expression change of C14orf73 (ENSG00000205436) in dendritic cells after treatment with Mycobacterium tuberculosis
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 105268228 2 ZBTB42 G A exonic nonsynonymous SNV ZBTB42:NM_001137601:exon1:c.G694A:p.E232K RS4983387 Stabilized warfarin dose:Childhood acute lymphoblastic leukemia:HDL cholesterol:Alcohol consumption:Obesity with early age of onset (age >2):Refractive error
14 105355949 2 CEP170B C G exonic synonymous SNV CEP170B:NM_015005:exon12:c.C3627G:p.T1209T
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 20071046 2
15 21154466 2
15 22925851 1 CYFIP1 C T exonic synonymous SNV CYFIP1:NM_001324119:exon2:c.C171T:p.P57P,CYFIP1:NM_001324120:exon2:c.C69T:p.P23P,CYFIP1:NM_001324123:exon2:c.C69T:p.P23P,CYFIP1:NM_001324124:exon2:c.C69T:p.P23P,CYFIP1:NM_001324126:exon2:c.C69T:p.P23P,CYFIP1:NM_014608:exon2:c.C69T:p.P23P,CYFIP1:NM_001287810:exon3:c.C69T:p.P23P
15 22939192 1 CYFIP1 G A exonic synonymous SNV CYFIP1:NM_001324125:exon7:c.G552A:p.P184P,CYFIP1:NM_001324124:exon9:c.G828A:p.P276P,CYFIP1:NM_001324126:exon9:c.G816A:p.P272P,CYFIP1:NM_001324119:exon10:c.G1020A:p.P340P,CYFIP1:NM_001324120:exon10:c.G918A:p.P306P,CYFIP1:NM_001324123:exon10:c.G918A:p.P306P,CYFIP1:NM_014608:exon10:c.G918A:p.P306P,CYFIP1:NM_001287810:exon11:c.G918A:p.P306P
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 25925094 2 ATP10A C G exonic nonsynonymous SNV ATP10A:NM_024490:exon21:c.G3894C:p.R1298S RS3816800 Multiple sclerosis:Lp-PLA2 mass:Parkinson's disease
15 25961964 2 ATP10A A G exonic synonymous SNV ATP10A:NM_024490:exon9:c.T1689C:p.P563P
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 30008856 2 TJP1 C A exonic synonymous SNV TJP1:NM_175610:exon22:c.G3921T:p.A1307A,TJP1:NM_001301026:exon23:c.G3933T:p.A1311A,TJP1:NM_001330239:exon23:c.G4161T:p.A1387A,TJP1:NM_003257:exon23:c.G4161T:p.A1387A,TJP1:NM_001301025:exon24:c.G4362T:p.A1454A
15 30008889 1 TJP1 G A exonic synonymous SNV TJP1:NM_175610:exon22:c.C3888T:p.A1296A,TJP1:NM_001301026:exon23:c.C3900T:p.A1300A,TJP1:NM_001330239:exon23:c.C4128T:p.A1376A,TJP1:NM_003257:exon23:c.C4128T:p.A1376A,TJP1:NM_001301025:exon24:c.C4329T:p.A1443A RS2229518 Serum creatinine:HDL cholesterol:Triglycerides:Refractive error
15 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 35198879 1 AQR G A exonic synonymous SNV AQR:NM_014691:exon18:c.C1698T:p.T566T
15 35273620 1 ZNF770 C T exonic synonymous SNV ZNF770:NM_014106:exon3:c.G2016A:p.Q672Q
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 40313141 1 EIF2AK4 C T exonic synonymous SNV EIF2AK4:NM_001013703:exon31:c.C4215T:p.G1405G RS3207297 Gene expression of EIF2AK4 [probe 237145_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Longstanding arthritis:Arthritis including non-Rheumatoid:HOMA-IR:Fasting blood glucose:Fasting insulin
15 40328575 2 SRP14 G C exonic nonsynonymous SNV SRP14:NM_003134:exon5:c.C370G:p.P124A,SRP14:NM_001309434:exon6:c.C226G:p.P76A RS7535 Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Advanced age-related macular degeneration (geographic atrophy)
15 40328665 1 SRP14 G A exonic synonymous SNV SRP14:NM_003134:exon5:c.C280T:p.L94L,SRP14:NM_001309434:exon6:c.C136T:p.L46L
15 40330564 2 SRP14 C T exonic synonymous SNV SRP14:NM_003134:exon3:c.G129A:p.K43K
15 40477831 1 BUB1B G A exonic nonsynonymous SNV BUB1B:NM_001211:exon8:c.G1046A:p.R349Q RS1801376 Arthritis including non-Rheumatoid:2 hour glucose:Plasma aldosterone concentration corrected by plasma renin activity:Resistance to kuru in aged women despite likely exposure:Gene expression change of PAK6 (ENSG00000137843) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of PAK6 (ENSG00000137843) in dendritic cells
15 40488851 1 BUB1B G A exonic synonymous SNV BUB1B:NM_001211:exon9:c.G1164A:p.A388A RS1047130 Triglycerides change with statins:Microalbuminuria:Aortic valve calcium:Advanced age-related macular degeneration (geographic atrophy)
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 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 41813279 1 RPAP1 C T exonic synonymous SNV RPAP1:NM_015540:exon22:c.G3105A:p.R1035R RS3743031 HDL cholesterol:LDL cholesterol:Serum creatinine:Triglycerides:HDL cholesterol:College completion:Years of education:Gene expression of RPAP1 in normal prepouch ileum
15 41815516 2 RPAP1 G C exonic nonsynonymous SNV RPAP1:NM_015540:exon18:c.C2473G:p.Q825E
15 41819716 1 RPAP1 C T exonic nonsynonymous SNV RPAP1:NM_015540:exon12:c.G1516A:p.E506K RS1200345 Gene expression of RPAP1 in normal prepouch ileum
15 41821752 1 RPAP1 T G exonic synonymous SNV RPAP1:NM_015540:exon9:c.A1074C:p.R358R RS1200349 Gene expression of RPAP1 in liver:LDL cholesterol:HDL cholesterol:Biploar disorder (bipolar schizoaffective disorder):Lung function, ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):Gene expression of RPAP1 in peripheral blood monocytes:Triglycerides:HDL cholesterol:Microalbuminuria:Vascular dementia:Years of education:Gene expression of RPAP1 in normal prepouch ileum
15 41829230 1 RPAP1 A G exonic synonymous SNV RPAP1:NM_015540:exon2:c.T94C:p.L32L RS721772 HDL cholesterol:Gene expression of RPAP1 in peripheral blood monocytes:Triglycerides:HDL cholesterol:Gene expression of RPAP1 in blood:Bipolar disorder:Years of education:College completion:Gene expression of RPAP1 in normal prepouch ileum:Primary rhegmatogenous retinal detachment
15 41860490 1 TYRO3 T A exonic nonsynonymous SNV TYRO3:NM_001330264:exon8:c.T902A:p.I301N,TYRO3:NM_006293:exon8:c.T1037A:p.I346N
15 42138456 1 JMJD7-PLA2G4B;PLA2G4B G A exonic synonymous SNV PLA2G4B:NM_001114633:exon17:c.G1656A:p.R552R,JMJD7-PLA2G4B:NM_001198588:exon22:c.G2349A:p.R783R,JMJD7-PLA2G4B:NM_005090:exon22:c.G2349A:p.R783R RS1197669 Gene expression of SPTBN5 in peripheral blood monocytes:Gene expression of EHD4 in peripheral blood monocytes:Gene expression of MAPKBP1 in peripheral blood monocytes:Gene expression of RPAP1 in peripheral blood monocytes:Triglycerides:HDL cholesterol:Years of education:Gene expression of MAPKBP1 (ENSG00000137802) in dendritic cells:College completion:Gene expression of SPTBN5 (probeID ILMN_1807609) in cerebellum in non-Alzheimer's disease samples:Gene expression of SPTBN5 (probeID ILMN_1807609) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of SPTBN5 (probeID ILMN_1807609) in cerebellum in Alzheimer's disease cases:Gene expression of SPTBN5 (probeID ILMN_1807609) in cerebellum in Alzheimer's disease cases and controls
15 42140053 1 JMJD7-PLA2G4B;PLA2G4B C A exonic nonsynonymous SNV PLA2G4B:NM_001114633:exon20:c.C2341A:p.H781N,JMJD7-PLA2G4B:NM_005090:exon25:c.C3034A:p.H1012N
15 42211486 2 EHD4 A G exonic synonymous SNV EHD4:NM_139265:exon4:c.T846C:p.F282F RS1704396 Fasting insulin:Triglycerides:Gene expression of EHD4 (ENSG00000103966) in dendritic cells:Parkinson's disease:College completion:Obesity with early age of onset (age >2)
15 42453958 1 VPS39 C T exonic nonsynonymous SNV VPS39:NM_015289:exon24:c.G2474A:p.R825Q,VPS39:NM_001301138:exon25:c.G2507A:p.R836Q
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 43678117 1 TUBGCP4 G A exonic synonymous SNV TUBGCP4:NM_001286414:exon8:c.G852A:p.Q284Q,TUBGCP4:NM_014444:exon8:c.G852A:p.Q284Q
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 45467540 2 SHF C G exonic nonsynonymous SNV SHF:NM_001301168:exon3:c.G724C:p.A242P,SHF:NM_001301169:exon3:c.G724C:p.A242P,SHF:NM_001301170:exon3:c.G724C:p.A242P,SHF:NM_001301171:exon3:c.G118C:p.A40P,SHF:NM_138356:exon4:c.G529C:p.A177P
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 45981317 1 SQOR G A exonic synonymous SNV SQOR:NM_021199:exon9:c.G1197A:p.P399P,SQOR:NM_001271213:exon10:c.G1197A:p.P399P RS10643 Barnes Akathisia Rating Scale:Triglycerides change with statins:Gene expression of SQRDL [probe ILMN_4694] in osteoblasts treated with BMP2:Gene expression of SQRDL [probe ILMN_4694] in untreated osteoblasts:Gene expression of SQRDL [probe ILMN_4694] in osteoblasts treated with PGE2:Gene expression of SQRDL in blood:Variant Creutzfeldt-Jakob disease:Gene expression of SQRDL (ENSG00000137767) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of SQRDL (ENSG00000137767) in dendritic cells
15 48460314 2
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 49293194 1 SECISBP2L C A exonic nonsynonymous SNV SECISBP2L:NM_014701:exon14:c.G1993T:p.V665L,SECISBP2L:NM_001193489:exon15:c.G2128T:p.V710L RS11854184 LDL cholesterol:Major depressive disorder (broad definition) (males):Major depressive disorder (broad definition):Alzheimer's disease
15 49429410 1 COPS2 A G exonic synonymous SNV COPS2:NM_001143887:exon6:c.T498C:p.Y166Y,COPS2:NM_004236:exon6:c.T477C:p.Y159Y RS17473148 Triglycerides:Total cholesterol:LDL cholesterol:Infant head circumference
15 49620200 1 GALK2 C T exonic synonymous SNV GALK2:NM_001001556:exon10:c.C1188T:p.C396C,GALK2:NM_001289031:exon10:c.C1149T:p.C383C,GALK2:NM_002044:exon10:c.C1221T:p.C407C,GALK2:NM_001289030:exon11:c.C1149T:p.C383C RS1055254 Triglycerides:Total cholesterol:LDL cholesterol:Gene expression of SECISBP2L in normal prepouch ileum:Infant head circumference
15 50474766 2 SLC27A2 A C exonic nonsynonymous SNV SLC27A2:NM_001159629:exon1:c.A142C:p.K48Q,SLC27A2:NM_003645:exon1:c.A142C:p.K48Q RS1648348 Total cholesterol change with statins
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 50878630 1 TRPM7 G A exonic nonsynonymous SNV TRPM7:NM_001301212:exon28:c.C4445T:p.T1482I,TRPM7:NM_017672:exon28:c.C4445T:p.T1482I RS8042919 Triglycerides
15 51294832 1 AP4E1 G A exonic synonymous SNV AP4E1:NM_001252127:exon21:c.G3162A:p.Q1054Q,AP4E1:NM_007347:exon21:c.G3387A:p.Q1129Q RS3825798 Alzheimer's disease:Total cholesterol:Serum creatinine:Chronic kidney disease:Autism with low IQ:Height:Waist hip ratio:Gene expression of SPPL2A [probe ILMN_27275] in osteoblasts treated with PGE2:Diastolic blood pressure (DBP):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Infant head circumference:Parkinson's disease
15 51529112 1 CYP19A1 T C exonic synonymous SNV CYP19A1:NM_001347256:exon2:c.A240G:p.V80V,CYP19A1:NM_000103:exon3:c.A240G:p.V80V,CYP19A1:NM_001347248:exon3:c.A240G:p.V80V,CYP19A1:NM_001347249:exon3:c.A240G:p.V80V,CYP19A1:NM_001347250:exon3:c.A240G:p.V80V,CYP19A1:NM_001347251:exon3:c.A240G:p.V80V,CYP19A1:NM_001347252:exon3:c.A240G:p.V80V,CYP19A1:NM_001347253:exon3:c.A240G:p.V80V,CYP19A1:NM_001347254:exon3:c.A240G:p.V80V,CYP19A1:NM_001347255:exon3:c.A240G:p.V80V,CYP19A1:NM_031226:exon4:c.A240G:p.V80V RS700518 Irritible bowel syndrome:Triglycerides:HOMA-IR:Fasting insulin:HOMA-B:Partial epilepsy:Height:Bipolar disorder:Age at death with kuru exposure:Resistance to kuru in aged women despite likely exposure:Birth weight
15 52510796 1 MYO5C A G exonic synonymous SNV MYO5C:NM_018728:exon32:c.T3874C:p.L1292L
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 52534344 2 MYO5C G A exonic synonymous SNV MYO5C:NM_018728:exon20:c.C2457T:p.R819R RS3751631 Hip bone mineral density (BMD):Triglycerides:Gene expression of MYO5C in CD4+ lymphocytes:Years of education
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 52611451 1 MYO5A A G exonic synonymous SNV MYO5A:NM_001142495:exon37:c.T4884C:p.D1628D,MYO5A:NM_000259:exon38:c.T4965C:p.D1655D RS2290332 Total cholesterol:LDL cholesterol
15 52901638 2 FAM214A T C exonic synonymous SNV FAM214A:NM_001286495:exon5:c.A1494G:p.Q498Q,FAM214A:NM_019600:exon6:c.A1473G:p.Q491Q RS3751614 Gene expression of Hs.11898 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Total cholesterol:Autism with low IQ:Birth weight
15 52901977 2 FAM214A G A exonic synonymous SNV FAM214A:NM_001286495:exon5:c.C1155T:p.A385A,FAM214A:NM_019600:exon6:c.C1134T:p.A378A RS2414166 Gene expression of Hs.11898 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Total cholesterol:LDL cholesterol:Birth weight:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
15 55653031 2 CCPG1 A G exonic synonymous SNV CCPG1:NM_001204450:exon8:c.T940C:p.L314L,CCPG1:NM_004748:exon8:c.T940C:p.L314L,CCPG1:NM_020739:exon8:c.T940C:p.L314L RS501231 Chronic kidney disease:Acute lung injury following major trauma:Advanced age-related macular degeneration (geographic atrophy)
15 56386577 2 RFX7 T G exonic nonsynonymous SNV RFX7:NM_022841:exon9:c.A3349C:p.N1117H
15 56387142 1 RFX7 G A exonic synonymous SNV RFX7:NM_022841:exon9:c.C2784T:p.H928H
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 56959028 2 ZNF280D C T exonic nonsynonymous SNV ZNF280D:NM_001002843:exon14:c.G1663A:p.V555I,ZNF280D:NM_001288588:exon15:c.G1702A:p.V568I,ZNF280D:NM_017661:exon15:c.G1702A:p.V568I RS28620278 Gene expression of ZNF280D in peripheral blood monocytes
15 57731335 2 CGNL1 A C exonic nonsynonymous SNV CGNL1:NM_032866:exon2:c.A1138C:p.T380P,CGNL1:NM_001252335:exon3:c.A1138C:p.T380P
15 57731728 1 CGNL1 A G exonic nonsynonymous SNV CGNL1:NM_032866:exon2:c.A1531G:p.T511A,CGNL1:NM_001252335:exon3:c.A1531G:p.T511A RS1280396 Variant Creutzfeldt-Jakob disease:Obesity with early age of onset (age >2):Hepatitis C virus (HCV)-induced liver fibrosis:Longevity (exceptional longevity)
15 58000981 2 GCOM1;POLR2M C T exonic synonymous SNV POLR2M:NM_015532:exon2:c.C183T:p.A61A,GCOM1:NM_001285900:exon13:c.C1374T:p.A458A RS1062707 Fasting insulin:HOMA-IR
15 58838038 2 LIPC C G exonic synonymous SNV LIPC:NM_000236:exon5:c.C672G:p.T224T RS6084 LDL cholesterol:HDL cholesterol
15 58853079 2 LIPC C A exonic nonsynonymous SNV LIPC:NM_000236:exon7:c.C1068A:p.F356L RS3829462 HDL cholesterol:Infant head circumference
15 58853109 2 LIPC A G exonic synonymous SNV LIPC:NM_000236:exon7:c.A1098G:p.T366T RS3829461 HDL cholesterol:Total cholesterol:Infant head circumference:Coronary artery disease (CAD)
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 59963488 2 BNIP2 A G exonic synonymous SNV BNIP2:NM_001320674:exon7:c.T964C:p.L322L,BNIP2:NM_001320675:exon7:c.T787C:p.L263L,BNIP2:NM_004330:exon7:c.T964C:p.L322L RS1135148 Gene expression of GTF2A2 [probe 243985_at] in lymphoblastoid cell lines:Total cholesterol:HDL cholesterol:Rheumatoid arthritis:Waist hip ratio:Body mass index (BMI):Birth weight:Parkinson's disease
15 60639874 1 ANXA2 G A exonic synonymous SNV ANXA2:NM_001002858:exon13:c.C1029T:p.G343G,ANXA2:NM_004039:exon13:c.C975T:p.G325G,ANXA2:NM_001002857:exon14:c.C975T:p.G325G,ANXA2:NM_001136015:exon14:c.C975T:p.G325G
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 60741229 1 ICE2 C G exonic nonsynonymous SNV ICE2:NM_001018089:exon10:c.G1526C:p.G509A,ICE2:NM_024611:exon10:c.G1937C:p.G646A
15 63009804 2 TLN2 C T exonic synonymous SNV TLN2:NM_015059:exon21:c.C2793T:p.A931A
15 63351840 2 TPM1 C A exonic synonymous SNV TPM1:NM_001018008:exon3:c.C345A:p.A115A,TPM1:NM_001301289:exon3:c.C345A:p.A115A,TPM1:NM_001330344:exon3:c.C345A:p.A115A,TPM1:NM_001330346:exon3:c.C345A:p.A115A,TPM1:NM_001330351:exon3:c.C345A:p.A115A,TPM1:NM_000366:exon4:c.C453A:p.A151A,TPM1:NM_001018004:exon4:c.C453A:p.A151A,TPM1:NM_001018005:exon4:c.C453A:p.A151A,TPM1:NM_001018006:exon4:c.C453A:p.A151A,TPM1:NM_001018007:exon4:c.C453A:p.A151A,TPM1:NM_001018020:exon4:c.C453A:p.A151A,TPM1:NM_001301244:exon4:c.C453A:p.A151A RS1071646 HDL cholesterol:Total cholesterol:Chronic kidney disease:Serum creatinine:Triglycerides:HDL cholesterol:Height:Gene expression of TPM1 in blood:Gene expression of LACTB in blood:Comorbid depressive syndrome and alcohol dependence:Bipolar disorder:Parkinson's disease:College completion
15 63414083 2 LACTB A C exonic nonsynonymous SNV LACTB:NM_001288585:exon1:c.A13C:p.M5L,LACTB:NM_032857:exon1:c.A13C:p.M5L,LACTB:NM_171846:exon1:c.A13C:p.M5L
15 63433766 2 LACTB G A exonic nonsynonymous SNV LACTB:NM_032857:exon6:c.G1406A:p.R469K RS2729835 HDL cholesterol:LDL cholesterol:Total cholesterol:Serum creatinine:Chronic kidney disease:Cystatin C in serum:Gene expression of LACTB in peripheral blood monocytes:Triglycerides:HDL cholesterol:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression of LACTB in blood:Diastolic blood pressure (DBP):Prostate cancer:Parkinson's disease:Gene expression of LACTB (ENSG00000103642) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of LACTB in normal prepouch ileum:Obesity with early age of onset (age >2)
15 63918307 2 HERC1 G C exonic synonymous SNV HERC1:NM_003922:exon71:c.C13152G:p.P4384P RS1140422 Triglycerides:Triglycerides:HDL cholesterol
15 63922752 2 HERC1 T A exonic synonymous SNV HERC1:NM_003922:exon69:c.A12879T:p.I4293I RS10851731 Fasting blood glucose
15 63932513 2 HERC1 G C exonic synonymous SNV HERC1:NM_003922:exon61:c.C11739G:p.L3913L
15 63954029 2 HERC1 C T exonic synonymous SNV HERC1:NM_003922:exon45:c.G9093A:p.P3031P RS2228511 Fasting blood glucose:LDL cholesterol
15 63970456 2 HERC1 T C exonic nonsynonymous SNV HERC1:NM_003922:exon37:c.A6658G:p.I2220V RS2228510 Spine bone mineral density (BMD):Triglycerides:HOMA-IR:Fasting blood glucose:Fasting insulin:Triglycerides:Late onset Alzheimer's disease:Sporadic Creutzfeldt-Jakob disease:Hypertension (early onset hypertension)
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 65108504 1 PIF1 A T exonic nonsynonymous SNV PIF1:NM_001286496:exon13:c.T1919A:p.I640N,PIF1:NM_001286499:exon13:c.T1760A:p.I587N,PIF1:NM_025049:exon13:c.T1919A:p.I640N RS17802279 Gene expression of LOC348094 in CHB-JPT lymphoblastoid cell lines:Fasting insulin:HOMA-IR:Total cholesterol change with statins:LDL cholesterol change with statins:Obesity with early age of onset (age >2)
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 65621441 1 IGDCC3 C A exonic nonsynonymous SNV IGDCC3:NM_004884:exon14:c.G2251T:p.V751L RS12907128 Triglycerides:Neuroblastoma (brain cancer):Gene expression of PARP16 in blood
15 65621857 2 IGDCC3 T C exonic synonymous SNV IGDCC3:NM_004884:exon13:c.A2076G:p.L692L RS509652 Cystatin C in serum
15 65667724 2 IGDCC3 A G exonic synonymous SNV IGDCC3:NM_004884:exon2:c.T120C:p.A40A
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 66034069 1 DENND4A A C exonic synonymous SNV DENND4A:NM_001144823:exon5:c.T615G:p.T205T,DENND4A:NM_001320835:exon5:c.T615G:p.T205T,DENND4A:NM_005848:exon5:c.T615G:p.T205T
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 66618342 1 DIS3L A G exonic nonsynonymous SNV DIS3L:NM_001323937:exon11:c.A1463G:p.D488G,DIS3L:NM_001323940:exon11:c.A731G:p.D244G,DIS3L:NM_001323943:exon11:c.A731G:p.D244G,DIS3L:NM_001323948:exon11:c.A1661G:p.D554G,DIS3L:NM_001143688:exon12:c.A1841G:p.D614G,DIS3L:NM_001323936:exon12:c.A1592G:p.D531G,DIS3L:NM_001323938:exon12:c.A1439G:p.D480G,DIS3L:NM_001323941:exon12:c.A1439G:p.D480G,DIS3L:NM_001323944:exon12:c.A1790G:p.D597G,DIS3L:NM_001323945:exon12:c.A1592G:p.D531G,DIS3L:NM_001323946:exon12:c.A1439G:p.D480G,DIS3L:NM_133375:exon12:c.A1592G:p.D531G,DIS3L:NM_001323939:exon13:c.A1439G:p.D480G RS3803412 Triglycerides
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 67528374 2 AAGAB T G exonic nonsynonymous SNV AAGAB:NM_001271885:exon4:c.A67C:p.I23L,AAGAB:NM_001271886:exon4:c.A67C:p.I23L,AAGAB:NM_024666:exon4:c.A394C:p.I132L RS7173826 Spine bone mineral density (BMD):Tardive dyskinesia:Total cholesterol change with statins:Autism:Body mass index (BMI):Diastolic blood pressure (DBP)
15 68583175 2 FEM1B T C exonic synonymous SNV FEM1B:NM_015322:exon2:c.T1479C:p.N493N
15 69561518 2 GLCE G A exonic nonsynonymous SNV GLCE:NM_001324092:exon4:c.G1018A:p.V340I,GLCE:NM_015554:exon5:c.G1789A:p.V597I,GLCE:NM_001324093:exon6:c.G1789A:p.V597I,GLCE:NM_001324094:exon6:c.G1789A:p.V597I RS3865014 Coronary artery disease (CAD):Stabilized warfarin dose:Rheumatoid arthritis:HDL cholesterol:Triglycerides change with statins:Body mass index (BMI):PROP taste detection threshold:Bipolar disorder:Obesity with early age of onset (age >2):Aortic valve calcium:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
15 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 70960068 2 UACA G A exonic synonymous SNV UACA:NM_001008224:exon16:c.C2916T:p.Y972Y,UACA:NM_018003:exon16:c.C2955T:p.Y985Y RS934005 Diastolic blood pressure (DBP):Sporadic Creutzfeldt-Jakob disease
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 71125093 2 LARP6 G A exonic synonymous SNV LARP6:NM_001286679:exon3:c.C222T:p.C74C,LARP6:NM_018357:exon3:c.C774T:p.C258C RS3825970 HOMA-B:LDL cholesterol:Total cholesterol:HDL cholesterol change with statins:Total cholesterol change with statins:LDL cholesterol change with statins:Advanced age-related macular degeneration
15 71125204 2 LARP6 A G exonic synonymous SNV LARP6:NM_001286679:exon3:c.T111C:p.F37F,LARP6:NM_018357:exon3:c.T663C:p.F221F RS1549317 Irritible bowel syndrome:HOMA-B:LDL cholesterol:Total cholesterol:HDL cholesterol change with statins:Total cholesterol change with statins:LDL cholesterol change with statins:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration
15 72432583 2 SENP8 A G exonic nonsynonymous SNV SENP8:NM_001166340:exon2:c.A619G:p.T207A,SENP8:NM_145204:exon2:c.A619G:p.T207A,SENP8:NM_001172109:exon3:c.A619G:p.T207A,SENP8:NM_001172110:exon3:c.A619G:p.T207A,SENP8:NM_001172111:exon3:c.A619G:p.T207A
15 72637795 2 HEXA T C exonic synonymous SNV HEXA:NM_000520:exon13:c.A1518G:p.E506E,HEXA:NM_001318825:exon13:c.A1551G:p.E517E
15 72638892 2 HEXA T C exonic nonsynonymous SNV HEXA:NM_000520:exon11:c.A1306G:p.I436V,HEXA:NM_001318825:exon11:c.A1339G:p.I447V
15 72873158 1 ARIH1 A G exonic synonymous SNV ARIH1:NM_005744:exon12:c.A1302G:p.L434L
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 74277795 2 STOML1 T C exonic synonymous SNV STOML1:NM_001256673:exon4:c.A504G:p.A168A,STOML1:NM_001256674:exon4:c.A504G:p.A168A,STOML1:NM_001324226:exon4:c.A186G:p.A62A,STOML1:NM_001324229:exon4:c.A186G:p.A62A,STOML1:NM_001256672:exon5:c.A654G:p.A218A,STOML1:NM_001256675:exon5:c.A654G:p.A218A,STOML1:NM_001256676:exon5:c.A393G:p.A131A,STOML1:NM_001324227:exon5:c.A393G:p.A131A,STOML1:NM_001324228:exon5:c.A393G:p.A131A,STOML1:NM_004809:exon5:c.A654G:p.A218A,STOML1:NM_001256677:exon6:c.A528G:p.A176A,STOML1:NM_001324230:exon6:c.A528G:p.A176A
15 74328116 2 PML A G exonic nonsynonymous SNV PML:NM_033250:exon7:c.A2170G:p.S724G,PML:NM_033239:exon8:c.A2314G:p.S772G
15 74328141 1 PML G T exonic nonsynonymous SNV PML:NM_033250:exon7:c.G2195T:p.G732V,PML:NM_033239:exon8:c.G2339T:p.G780V
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 74948095 1 EDC3 C T exonic nonsynonymous SNV EDC3:NM_001351379:exon4:c.G364A:p.V122M,EDC3:NM_025083:exon4:c.G799A:p.V267M,EDC3:NM_001142444:exon5:c.G799A:p.V267M,EDC3:NM_001351378:exon6:c.G799A:p.V267M,EDC3:NM_001142443:exon7:c.G799A:p.V267M
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 75131959 1 ULK3 A G exonic synonymous SNV ULK3:NM_001099436:exon7:c.T792C:p.F264F,ULK3:NM_001284364:exon7:c.T792C:p.F264F,ULK3:NM_001284365:exon7:c.T441C:p.F147F RS936227 APOB (apolipoprotein B):Hip bone mineral density (BMD):LDL cholesterol:Differential exon level expression of ULK3 [probe 3633118] in brain cortex:Gene expression of SCAMP2 [probe 3633148] in peripheral blood mononuclear cells:Barnes Akathisia Rating Scale:Gene expression of MPI in peripheral blood monocytes:Gene expression of ULK3 in peripheral blood monocytes:LDL cholesterol:Total cholesterol:Body mass index (BMI):Habitual caffeine consumption:Gene expression of CSK in blood:Gene expression of C15orf17 in blood:Gene expression of COX5A in blood:Gene expression of SCAMP2 in blood:Gene expression of ULK3 in blood:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Neuroticism:Coronary artery disease (CAD):Infant head circumference:Adiponectin levels
15 75189930 1 MPI A G exonic synonymous SNV MPI:NM_001289156:exon7:c.A981G:p.V327V,MPI:NM_001289157:exon7:c.A948G:p.V316V,MPI:NM_001330372:exon8:c.A1071G:p.V357V,MPI:NM_002435:exon8:c.A1131G:p.V377V RS1130741 Total cholesterol:LDL cholesterol:Coffee consumption:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Advanced age-related macular degeneration:All topoisomerase inhibitors-induced neutropenia/leukopenia in cancer patients:Infant head circumference:Adiponectin levels:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Coronary artery disease (CAD):Neuroticism
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 75650836 1 MAN2C1 G A exonic synonymous SNV MAN2C1:NM_001256496:exon18:c.C2073T:p.D691D,MAN2C1:NM_001256494:exon20:c.C2421T:p.D807D,MAN2C1:NM_001256495:exon20:c.C2370T:p.D790D,MAN2C1:NM_006715:exon20:c.C2370T:p.D790D RS1128933 LDL cholesterol:Total cholesterol change with statins:LDL cholesterol:Total cholesterol
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 78337303 1 TBC1D2B C T exonic nonsynonymous SNV TBC1D2B:NM_015079:exon3:c.G622A:p.A208T,TBC1D2B:NM_144572:exon3:c.G622A:p.A208T
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 78837262 1 PSMA4 G A exonic synonymous SNV PSMA4:NM_001102668:exon5:c.G126A:p.A42A,PSMA4:NM_001102667:exon6:c.G339A:p.A113A,PSMA4:NM_001330673:exon6:c.G339A:p.A113A,PSMA4:NM_001330675:exon6:c.G246A:p.A82A,PSMA4:NM_001330676:exon6:c.G339A:p.A113A,PSMA4:NM_002789:exon6:c.G339A:p.A113A
15 78841220 1 PSMA4 T C exonic synonymous SNV PSMA4:NM_001102668:exon8:c.T507C:p.H169H,PSMA4:NM_001102667:exon9:c.T720C:p.H240H,PSMA4:NM_001330675:exon9:c.T627C:p.H209H,PSMA4:NM_001330676:exon9:c.T720C:p.H240H,PSMA4:NM_002789:exon9:c.T720C:p.H240H RS8053 Chronic obstructive pulmonary disease (COPD):Methylation levels at chr15:76644004-76644054 [hg18 coord, probe cg22563815] in Caudal pons:Salmonella-induced pyroptosis
15 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 79237247 1 CTSH C G exonic nonsynonymous SNV CTSH:NM_004390:exon1:c.G77C:p.C26S RS1036938 Gene expression of CTSH in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of CTSH in lymphoblastoid cell lines:Triglycerides:HDL cholesterol:Cystatin C in serum:Total cholesterol:Triglycerides:Systolic blood pressure (SBP):College completion:Coronary artery disease (CAD)
15 79603653 1 TMED3 C T exonic nonsynonymous SNV TMED3:NM_001301203:exon1:c.C62T:p.A21V,TMED3:NM_001330376:exon1:c.C62T:p.A21V,TMED3:NM_007364:exon1:c.C62T:p.A21V
15 79606137 1 TMED3 G A exonic synonymous SNV TMED3:NM_001301203:exon2:c.G207A:p.V69V,TMED3:NM_001330376:exon2:c.G207A:p.V69V,TMED3:NM_007364:exon2:c.G207A:p.V69V
15 79614418 2 TMED3 A G exonic synonymous SNV TMED3:NM_007364:exon3:c.A516G:p.A172A
15 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 81212608 2 CEMIP G A exonic synonymous SNV CEMIP:NM_018689:exon14:c.G1971A:p.P657P,CEMIP:NM_001293298:exon15:c.G1971A:p.P657P,CEMIP:NM_001293304:exon15:c.G1971A:p.P657P
15 82444437 2 EFL1 A G exonic synonymous SNV EFL1:NM_001040610:exon16:c.T2205C:p.G735G,EFL1:NM_001322844:exon17:c.T1569C:p.G523G,EFL1:NM_001322845:exon18:c.T2358C:p.G786G,EFL1:NM_024580:exon18:c.T2358C:p.G786G RS905450 HOMA-IR:Bipolar disorder:Sporadic Creutzfeldt-Jakob disease:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy)
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 84842797 1 UBE2Q2L A C exonic nonsynonymous SNV UBE2Q2L:NM_001243531:exon2:c.A122C:p.D41A
15 84842806 1 UBE2Q2L T C exonic nonsynonymous SNV UBE2Q2L:NM_001243531:exon2:c.T131C:p.M44T
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 85188775 1 WDR73 G A exonic synonymous SNV WDR73:NM_032856:exon7:c.C810T:p.S270S
15 85188994 2 WDR73 T C exonic synonymous SNV WDR73:NM_032856:exon7:c.A591G:p.S197S
15 85327606 1 ZNF592 T G exonic nonsynonymous SNV ZNF592:NM_014630:exon4:c.T1700G:p.L567R
15 85333953 1 ZNF592 A G exonic synonymous SNV ZNF592:NM_014630:exon5:c.A2238G:p.Q746Q RS2241645 Alzheimer's disease:Gene expression of AC115102.7///SEC11B in blood:Gene expression of WDR73 in blood:Bipolar disorder:Sporadic Creutzfeldt-Jakob disease:Years of education:Salmonella-induced pyroptosis
15 86122654 2 AKAP13 T C exonic nonsynonymous SNV AKAP13:NM_006738:exon7:c.T1355C:p.M452T,AKAP13:NM_007200:exon7:c.T1355C:p.M452T RS2061821 Plasma homocysteine:Homocysteine levels:Gene expression of AKAP13 in blood:Age at death with kuru exposure:Refractive error:College completion:Birth weight
15 86123833 2 AKAP13 T C exonic nonsynonymous SNV AKAP13:NM_006738:exon7:c.T2534C:p.V845A,AKAP13:NM_007200:exon7:c.T2534C:p.V845A RS4075256 Gene expression of AKAP13 in blood:Refractive error:Birth weight:College completion
15 86123924 2 AKAP13 C T exonic synonymous SNV AKAP13:NM_006738:exon7:c.C2625T:p.P875P,AKAP13:NM_007200:exon7:c.C2625T:p.P875P
15 86278309 1 AKAP13 G A exonic nonsynonymous SNV AKAP13:NM_001270546:exon23:c.G3232A:p.G1078S,AKAP13:NM_006738:exon31:c.G7381A:p.G2461S,AKAP13:NM_007200:exon31:c.G7369A:p.G2457S RS2241268 Differential exon level expression of AKAP13 [probe 3606444] in brain cortex:Differential exon level expression of AKAP13 [probe 3606457] in brain cortex:Differential exon level expression of AKAP13 [probe 3606457] in peripheral blood mononuclear cells:Differential exon level expression of AKAP13 [probe 3606397] in brain cortex:Differential exon level expression of AKAP13 [probe 3606405] in brain cortex:Differential exon level expression of AKAP13 [probe 3606453] in brain cortex:Gene expression of AKAP13 [probe 3606304] in brain cortex:HDL cholesterol change with statins:Autism:Gene expression of AKAP13 in blood:Diastolic blood pressure (DBP):Refractive error
15 86311695 1 KLHL25 G A exonic synonymous SNV KLHL25:NM_022480:exon2:c.C1347T:p.F449F RS1978391 Systemic lupus erythematosus (SLE):Autism with low IQ:Diastolic blood pressure (DBP):Refractive error
15 86312681 1 KLHL25 G A exonic synonymous SNV KLHL25:NM_022480:exon2:c.C361T:p.L121L
15 89169614 1 AEN A G exonic synonymous SNV AEN:NM_022767:exon2:c.A174G:p.E58E RS3743476 Height
15 89169703 1 AEN C G exonic nonsynonymous SNV AEN:NM_022767:exon2:c.C263G:p.S88C RS8026929 Chronic kidney disease
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 89195526 2 ISG20 A G exonic synonymous SNV ISG20:NM_001303235:exon2:c.A381G:p.L127L,ISG20:NM_001303233:exon3:c.A414G:p.L138L,ISG20:NM_001303236:exon3:c.A381G:p.L127L,ISG20:NM_001303237:exon3:c.A354G:p.L118L,ISG20:NM_002201:exon3:c.A414G:p.L138L,ISG20:NM_001303234:exon4:c.A414G:p.L138L
15 89450546 2 MFGE8 C T exonic synonymous SNV MFGE8:NM_001310319:exon2:c.G135A:p.S45S,MFGE8:NM_001114614:exon3:c.G267A:p.S89S,MFGE8:NM_005928:exon3:c.G267A:p.S89S,MFGE8:NM_001310320:exon4:c.G243A:p.S81S
15 89450587 2 MFGE8 G T exonic nonsynonymous SNV MFGE8:NM_001310319:exon2:c.C94A:p.L32M,MFGE8:NM_001114614:exon3:c.C226A:p.L76M,MFGE8:NM_005928:exon3:c.C226A:p.L76M,MFGE8:NM_001310320:exon4:c.C202A:p.L68M RS1878326 Hip bone mineral density (BMD):Schizophrenia:Cystatin C in serum:Height:Late onset Alzheimer's disease:Paternal transmission distortion:Gene expression of MFGE8 (probeID ILMN_1756071) in temporal cortex in Alzheimer's disease cases and controls
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 90126121 1 TICRR C T exonic nonsynonymous SNV TICRR:NM_001308025:exon2:c.C859T:p.R287C,TICRR:NM_152259:exon2:c.C859T:p.R287C RS10775247 Gene expression of C15orf42 [probe 232475_at] in lymphoblastoid cell lines:Late onset Alzheimer's disease:Gene expression of MESP1 in blood
15 90138670 2 TICRR C T exonic synonymous SNV TICRR:NM_001308025:exon7:c.C1725T:p.C575C,TICRR:NM_152259:exon7:c.C1728T:p.C576C RS8042146 HDL cholesterol
15 90168108 2 TICRR C T exonic nonsynonymous SNV TICRR:NM_001308025:exon20:c.C4564T:p.R1522C,TICRR:NM_152259:exon20:c.C4567T:p.R1523C RS894157 Gene expression of ZNF238 in peripheral blood monocytes:Gene expression of MESP1 in peripheral blood monocytes:Gene expression of MESP1 in blood:Gene expression of ANPEP in blood:Fasting serum IGF-1 free (ng/mL) in children:Primary rhegmatogenous retinal detachment
15 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 90170237 1 TICRR C T exonic nonsynonymous SNV TICRR:NM_001308025:exon22:c.C5650T:p.R1884C,TICRR:NM_152259:exon22:c.C5653T:p.R1885C RS3743372 Gene expression of C15orf42 [probe 232475_at] in lymphoblastoid cell lines
15 90226947 2 PEX11A C A exonic synonymous SNV PEX11A:NM_001271572:exon3:c.G312T:p.L104L,PEX11A:NM_003847:exon3:c.G405T:p.L135L RS7169981 Obesity with early age of onset (age >2)
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 90349558 1 ANPEP C T exonic nonsynonymous SNV ANPEP:NM_001150:exon2:c.G257A:p.R86Q RS25653 Triglycerides:Height:Comorbid depressive syndrome and alcohol dependence:Resistance to kuru in aged women despite likely exposure
15 90610807 1 ZNF710 C A exonic synonymous SNV ZNF710:NM_198526:exon2:c.C438A:p.G146G
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 90768959 1 SEMA4B A C exonic synonymous SNV SEMA4B:NM_001324029:exon11:c.A1174C:p.R392R,SEMA4B:NM_001324030:exon12:c.A1120C:p.R374R,SEMA4B:NM_001324032:exon12:c.A1588C:p.R530R,SEMA4B:NM_001324034:exon12:c.A1618C:p.R540R,SEMA4B:NM_198925:exon12:c.A1588C:p.R530R,SEMA4B:NM_001324031:exon13:c.A1747C:p.R583R,SEMA4B:NM_001324033:exon13:c.A1120C:p.R374R,SEMA4B:NM_020210:exon13:c.A1588C:p.R530R
15 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 91083353 2 CRTC3 G A exonic nonsynonymous SNV CRTC3:NM_001042574:exon2:c.G215A:p.S72N,CRTC3:NM_022769:exon2:c.G215A:p.S72N RS8033595 Stabilized warfarin dose:HDL cholesterol:HDL cholesterol change with statins:Triglycerides change with statins:Microalbuminuria:Gene expression of IQGAP1 in blood:Gene expression of ZNF774 in normal prepouch ileum:Mitral annular calcium
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 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 91424752 1 FURIN C T exonic nonsynonymous SNV FURIN:NM_001289823:exon16:c.C2029T:p.R677W,FURIN:NM_001289824:exon16:c.C2029T:p.R677W,FURIN:NM_002569:exon16:c.C2029T:p.R677W
15 91449654 1 MAN2A2 T C exonic synonymous SNV MAN2A2:NM_006122:exon6:c.T762C:p.D254D,MAN2A2:NM_001320977:exon7:c.T762C:p.D254D RS2072077 HIV-1 disease progression:Comorbid depressive syndrome and alcohol dependence
15 91449702 1 MAN2A2 A T exonic synonymous SNV MAN2A2:NM_006122:exon6:c.A810T:p.G270G,MAN2A2:NM_001320977:exon7:c.A810T:p.G270G
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 91489919 1 UNC45A A G exonic synonymous SNV UNC45A:NM_001323620:exon10:c.A840G:p.P280P,UNC45A:NM_001323621:exon10:c.A1230G:p.P410P,UNC45A:NM_018671:exon10:c.A1275G:p.P425P,UNC45A:NM_001323619:exon11:c.A1275G:p.P425P,UNC45A:NM_001039675:exon13:c.A1230G:p.P410P RS12911432 HDL cholesterol:Gene expression of RCCD1 [transcript NM_033544, probe A_23_P106433] in liver
15 91524841 2 PRC1 G T exonic nonsynonymous SNV PRC1:NM_001267580:exon4:c.C437A:p.A146E,PRC1:NM_003981:exon5:c.C560A:p.A187E,PRC1:NM_199413:exon5:c.C560A:p.A187E
15 91525197 1 PRC1 C T exonic synonymous SNV PRC1:NM_001267580:exon3:c.G159A:p.T53T,PRC1:NM_003981:exon4:c.G282A:p.T94T,PRC1:NM_199413:exon4:c.G282A:p.T94T RS2301826 Spine bone mineral density (BMD):Schizophrenia:LDL cholesterol change with statins:Gene expression of RCCD1 in peripheral blood monocytes:Gene expression of UNC45A in peripheral blood monocytes:HDL cholesterol:Total cholesterol:Gene expression of RCCD1 in CD4+ lymphocytes:Gene expression of RCCD1 in blood:Gene expression of VPS33B in blood:Type 2 diabetes:Tetrology of fallot
15 91543761 1 VPS33B C T exonic nonsynonymous SNV VPS33B:NM_001289148:exon19:c.G1459A:p.G487S,VPS33B:NM_001289149:exon19:c.G1267A:p.G423S,VPS33B:NM_018668:exon20:c.G1540A:p.G514S RS11073964 LDL cholesterol change with statins:HDL cholesterol:Gene expression of RCCD1 in peripheral blood monocytes:Aortic valve calcium
15 93510603 2 CHD2 A G exonic synonymous SNV CHD2:NM_001271:exon17:c.A2049G:p.E683E RS4777755 Total cholesterol change with statins:Rheumatoid arthritis:Total cholesterol:College completion
15 93536197 1 CHD2 C T exonic synonymous SNV CHD2:NM_001271:exon28:c.C3564T:p.Y1188Y RS2272457 Tetrology of fallot:Transmission distortion
15 98504100 1 ARRDC4 G C exonic synonymous SNV ARRDC4:NM_183376:exon1:c.G9C:p.G3G
15 99901629 1 LRRC28 G A exonic nonsynonymous SNV LRRC28:NM_001321677:exon7:c.G577A:p.A193T,LRRC28:NM_001321679:exon7:c.G322A:p.A108T,LRRC28:NM_001321680:exon7:c.G322A:p.A108T,LRRC28:NM_001284400:exon8:c.G784A:p.A262T,LRRC28:NM_001321675:exon8:c.G784A:p.A262T,LRRC28:NM_001321678:exon8:c.G649A:p.A217T,LRRC28:NM_144598:exon8:c.G784A:p.A262T,LRRC28:NM_001321676:exon9:c.G772A:p.A258T
15 100252805 1 MEF2A G T exonic synonymous SNV MEF2A:NM_001130928:exon8:c.G1119T:p.G373G,MEF2A:NM_001130926:exon10:c.G1323T:p.G441G,MEF2A:NM_001130927:exon10:c.G1143T:p.G381G,MEF2A:NM_005587:exon11:c.G1329T:p.G443G,MEF2A:NM_001171894:exon12:c.G1323T:p.G441G,MEF2A:NM_001319206:exon12:c.G1347T:p.G449G
15 100269796 1 LYSMD4 A G exonic synonymous SNV LYSMD4:NM_001284420:exon2:c.T240C:p.S80S,LYSMD4:NM_001284417:exon3:c.T423C:p.S141S,LYSMD4:NM_001284418:exon3:c.T423C:p.S141S,LYSMD4:NM_001284421:exon4:c.T45C:p.S15S,LYSMD4:NM_001284419:exon5:c.T411C:p.S137S,LYSMD4:NM_001284422:exon5:c.T45C:p.S15S,LYSMD4:NM_152449:exon6:c.T426C:p.S142S
15 101109677 1 LINS1 C A exonic nonsynonymous SNV LINS1:NM_001040616:exon7:c.G2040T:p.R680S RS8451 Chemosensitivity to targeted regimes in metastatic colorectal cancer (Bevacizumab+5-FU/leucovorin+oxaliplatin regime)
15 101109818 2 LINS1 G A exonic synonymous SNV LINS1:NM_001040616:exon7:c.C1899T:p.D633D RS12460 Gene expression of LINS1 [probe 231976_at] in lymphoblastoid cell lines:Gene expression of LINS1 [probe 220121_at] in lymphoblastoid cell lines:Gene expression of LINS1 [probe 228348_at] in lymphoblastoid cell lines:Gene expression of PRKXP1 [probe 235987_at] in lymphoblastoid cell lines:Gene expression of PRKXP1 in lymphoblastoid cell lines:Gene expression of PRKXP1 in liver:Differential exon level expression of LINS1 [probe 3641887] in brain cortex:Gene expression of PRKXP1 [transcript ID 3641823] in brain cortex:Gene expression of PRKXP1 [transcript ID 3641823] in peripheral blood mononuclear cells:HDL cholesterol:Gene expression of LINS1 in peripheral blood monocytes:Gene expression of LINS1 in CD4+ lymphocytes:Waist hip ratio:Gene expression of LINS1 [probeset 231976_at] in sputum:Gene expression of LINS1 [probeset 220121_at] in sputum:Advanced age-related macular degeneration (geographic atrophy):Gene expression of LINS in normal prepouch ileum:Tetrology of fallot
15 101109893 1 LINS1 C A exonic synonymous SNV LINS1:NM_001040616:exon7:c.G1824T:p.G608G
15 101110265 1 LINS1 T A exonic synonymous SNV LINS1:NM_001040616:exon7:c.A1452T:p.T484T RS2411836 Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration (geographic atrophy)
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 101718097 1 CHSY1 C G exonic synonymous SNV CHSY1:NM_014918:exon3:c.G1905C:p.V635V
15 101835306 1 SNRPA1 G C exonic synonymous SNV SNRPA1:NM_003090:exon1:c.C78G:p.L26L
15 101910550 1 PCSK6 G A exonic unknown UNKNOWN RS20543 Chronic kidney disease:Gene expression of PCSK6 in peripheral blood monocytes:Triglycerides:Diastolic blood pressure (DBP):Mitral annular calcium
15 101924546 1 PCSK6 C T exonic unknown UNKNOWN RS1135911 Tardive dyskinesia:Abnormal Involuntary Movement Scale:LDL cholesterol:Body mass index (BMI)
15 102029597 1 PCSK6 C G exonic unknown UNKNOWN
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 102264476 2 TARSL2 C A exonic nonsynonymous SNV TARSL2:NM_152334:exon1:c.G115T:p.A39S
15 105278361 2
16 103517 2 POLR3K A C exonic nonsynonymous SNV POLR3K:NM_016310:exon1:c.T70G:p.S24A
16 396264 2 AXIN1 A G exonic synonymous SNV AXIN1:NM_003502:exon2:c.T762C:p.D254D,AXIN1:NM_181050:exon2:c.T762C:p.D254D RS1805105 HDL cholesterol change with statins:Rheumatoid arthritis:Microalbuminuria:Refractive error
16 426432 2 TMEM8A T C exonic nonsynonymous SNV TMEM8A:NM_021259:exon6:c.A928G:p.I310V RS2071915 Gene expression of TMEM8 [probe 222718_at] in lymphoblastoid cell lines:HDL cholesterol:Differential exon level expression of TMEM8 [probe 3675124] in peripheral blood mononuclear cells:Differential exon level expression of TMEM8 [probe 3675130] in peripheral blood mononuclear cells:Differential exon level expression of TMEM8 [probe 3675139] in peripheral blood mononuclear cells:Differential exon level expression of TMEM8 [probe 3675121] in peripheral blood mononuclear cells:Differential exon level expression of TMEM8 [probe 3675138] in peripheral blood mononuclear cells:Differential exon level expression of TMEM8 [probe 3675129] in peripheral blood mononuclear cells:Differential exon level expression of MRPL28 [probe 3675109] in peripheral blood mononuclear cells:Differential exon level expression of TMEM8 [probe 3675119] in peripheral blood mononuclear cells:Differential exon level expression of TMEM8 [probe 3675137] in peripheral blood mononuclear cells:Gene expression of TMEM8 [probe 3675116] in peripheral blood mononuclear cells:Differential exon level expression of TMEM8 [probe 3675136] in peripheral blood mononuclear cells:Differential exon level expression of TMEM8 [probe 3675125] in peripheral blood mononuclear cells:Differential exon level expression of TMEM8 [probe 3675140] in peripheral blood mononuclear cells:Differential exon level expression of TMEM8 [probe 3675122] in peripheral blood mononuclear cells:Differential exon level expression of MRPL28 [probe 3675109] in brain cortex:Differential exon level expression of TMEM8 [probe 3675133] in peripheral blood mononuclear cells:Rheumatoid arthritis:Methylation levels at chr16:360063-360113 [hg18 coord, probe cg12437481] in Frontal cortex:Methylation levels at chr16:360063-360113 [hg18 coord, probe cg12437481] in Temporal cortex:Methylation levels at chr16:360063-360113 [hg18 coord, probe cg12437481] in Caudal pons:Gene expression of TMEM8 in Frontal cortex:Gene expression of TMEM8 in Temporal cortex:Gene expression of TMEM8 in CD4+ lymphocytes:Gene expression of TMEM8A [probeset 221882_s_at] in sputum:Sporadic Creutzfeldt-Jakob disease:Gene expression of TMEM8A in normal prepouch ileum:Parkinson's disease:Refractive error
16 427479 2 TMEM8A T C exonic nonsynonymous SNV TMEM8A:NM_021259:exon3:c.A406G:p.T136A RS11248931 Gene expression of MRPL28 (ENSG00000086504) in dendritic cells:Gene expression of TMEM8A in normal prepouch ileum
16 427516 2 TMEM8A T C exonic synonymous SNV TMEM8A:NM_021259:exon3:c.A369G:p.V123V
16 427784 2 TMEM8A G A exonic synonymous SNV TMEM8A:NM_021259:exon2:c.C186T:p.Y62Y RS11641742 Gene expression of TMEM8 [probe 222718_at] in lymphoblastoid cell lines:HDL cholesterol:Rheumatoid arthritis:Methylation levels at chr16:360063-360113 [hg18 coord, probe cg12437481] in Temporal cortex:Methylation levels at chr16:360063-360113 [hg18 coord, probe cg12437481] in Caudal pons:Methylation levels at chr16:360063-360113 [hg18 coord, probe cg12437481] in Frontal cortex:Gene expression of TMEM8 in Frontal cortex:Gene expression of TMEM8 in Temporal cortex:Parkinson's disease:Refractive error:Gene expression of TMEM8A in normal prepouch ileum:Infant head circumference
16 427820 2 TMEM8A C T exonic synonymous SNV TMEM8A:NM_021259:exon2:c.G150A:p.S50S
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 1129912 2 SSTR5 A G exonic synonymous SNV SSTR5:NM_001053:exon1:c.A1044G:p.P348P,SSTR5:NM_001172560:exon2:c.A1044G:p.P348P
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 1484473 2 CCDC154 A G exonic nonsynonymous SNV CCDC154:NM_001143980:exon17:c.T1940C:p.L647P
16 1545448 2 TELO2 A G exonic nonsynonymous SNV TELO2:NM_016111:exon3:c.A437G:p.Q146R RS2235624 Fasting insulin:HOMA-IR:HOMA-B
16 1608082 2 IFT140 A G exonic synonymous SNV IFT140:NM_014714:exon19:c.T2253C:p.P751P RS2076436 Total cholesterol:LDL cholesterol:Refractive error
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 1877698 2 FAHD1 C G exonic synonymous SNV FAHD1:NM_001018104:exon1:c.C468G:p.L156L,FAHD1:NM_001142398:exon1:c.C468G:p.L156L,FAHD1:NM_031208:exon1:c.C468G:p.L156L RS3743852 Triglycerides:LDL cholesterol:Total cholesterol:Cystatin C in serum:Methylation levels at chr16:1762290-1762340 [hg18 coord, probe cg19030554] in Temporal cortex:Triglycerides:Height:Advanced age-related macular degeneration (geographic atrophy)
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 2149975 1 PKD1 C T exonic synonymous SNV PKD1:NM_000296:exon29:c.G9810A:p.P3270P,PKD1:NM_001009944:exon29:c.G9810A:p.P3270P
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 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 2152129 1 PKD1 A G exonic synonymous SNV PKD1:NM_000296:exon26:c.T9330C:p.P3110P,PKD1:NM_001009944:exon26:c.T9330C:p.P3110P
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 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 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 2158304 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon15:c.C6864T:p.D2288D,PKD1:NM_001009944:exon15:c.C6864T:p.D2288D
16 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 2158409 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon15:c.C6759T:p.P2253P,PKD1:NM_001009944:exon15:c.C6759T:p.P2253P
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 2158682 1 PKD1 C T exonic synonymous SNV PKD1:NM_000296:exon15:c.G6486A:p.R2162R,PKD1:NM_001009944:exon15:c.G6486A:p.R2162R
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 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 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 2160973 1 PKD1 A G exonic nonsynonymous SNV PKD1:NM_000296:exon15:c.T4195C:p.W1399R,PKD1:NM_001009944:exon15:c.T4195C:p.W1399R
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 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 2161394 1 PKD1 T G exonic synonymous SNV PKD1:NM_000296:exon15:c.A3774C:p.A1258A,PKD1:NM_001009944:exon15:c.A3774C:p.A1258A
16 2161400 1 PKD1 C T exonic synonymous SNV PKD1:NM_000296:exon15:c.G3768A:p.P1256P,PKD1:NM_001009944:exon15:c.G3768A:p.P1256P
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 2162839 1 PKD1 T C exonic synonymous SNV PKD1:NM_000296:exon13:c.A3111G:p.L1037L,PKD1:NM_001009944:exon13:c.A3111G:p.L1037L
16 2164354 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon11:c.C2670T:p.N890N,PKD1:NM_001009944:exon11:c.C2670T:p.N890N
16 2164835 1 PKD1 G A exonic nonsynonymous SNV PKD1:NM_000296:exon11:c.C2189T:p.S730L,PKD1:NM_001009944:exon11:c.C2189T:p.S730L
16 2167972 1 PKD1 C T exonic nonsynonymous SNV PKD1:NM_000296:exon5:c.G1021A:p.A341T,PKD1:NM_001009944:exon5:c.G1021A:p.A341T
16 2168059 1 PKD1 C G exonic nonsynonymous SNV PKD1:NM_000296:exon5:c.G934C:p.A312P,PKD1:NM_001009944:exon5:c.G934C:p.A312P
16 2168072 1 PKD1 G A exonic synonymous SNV PKD1:NM_000296:exon5:c.C921T:p.F307F,PKD1:NM_001009944:exon5:c.C921T:p.F307F
16 2168167 1 PKD1 T C exonic nonsynonymous SNV PKD1:NM_000296:exon5:c.A826G:p.T276A,PKD1:NM_001009944:exon5:c.A826G:p.T276A
16 2168234 1 PKD1 T C exonic synonymous SNV PKD1:NM_000296:exon5:c.A759G:p.P253P,PKD1:NM_001009944:exon5:c.A759G:p.P253P
16 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 2168293 1 PKD1 C A exonic nonsynonymous SNV PKD1:NM_000296:exon5:c.G700T:p.A234S,PKD1:NM_001009944:exon5:c.G700T:p.A234S
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 2331430 2 ABCA3 A G exonic synonymous SNV ABCA3:NM_001089:exon27:c.T4116C:p.S1372S
16 2812890 2 SRRM2 A G exonic synonymous SNV SRRM2:NM_016333:exon11:c.A2361G:p.K787K RS2240141 Total cholesterol change with statins:Triglycerides change with statins:Height:Waist hip ratio:Advanced age-related macular degeneration (geographic atrophy)
16 2814162 2 SRRM2 G A exonic synonymous SNV SRRM2:NM_016333:exon11:c.G3633A:p.R1211R
16 2815237 2 SRRM2 A C exonic synonymous SNV SRRM2:NM_016333:exon11:c.A4708C:p.R1570R RS3094773 Stabilized warfarin dose
16 2818161 2 SRRM2 T C exonic synonymous SNV SRRM2:NM_016333:exon11:c.T7632C:p.S2544S RS2301802 Total cholesterol change with statins:Triglycerides change with statins:Height:Waist hip ratio:Advanced age-related macular degeneration (geographic atrophy)
16 2821573 2 ELOB C T exonic nonsynonymous SNV ELOB:NM_207013:exon5:c.G386A:p.S129N RS8017 HDL cholesterol change with statins:Urinary albumin-to-creatinine ratio:Microalbuminuria:Comorbid depressive syndrome and alcohol dependence
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 3658876 2 SLX4 G A exonic synonymous SNV SLX4:NM_032444:exon2:c.C90T:p.S30S
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 4165432 2 ADCY9 T C exonic synonymous SNV ADCY9:NM_001116:exon2:c.A12G:p.P4P
16 4751045 2 ANKS3 C T exonic nonsynonymous SNV ANKS3:NM_001324129:exon7:c.G691A:p.A231T,ANKS3:NM_001242929:exon8:c.G889A:p.A297T,ANKS3:NM_001308089:exon10:c.G823A:p.A275T,ANKS3:NM_001324130:exon10:c.G340A:p.A114T,ANKS3:NM_133450:exon11:c.G1210A:p.A404T RS863980 Fasting insulin:Gene expression of MGRN1 in normal prepouch ileum
16 4752134 2 ANKS3 A G exonic synonymous SNV ANKS3:NM_001324129:exon5:c.T459C:p.D153D,ANKS3:NM_001242929:exon6:c.T657C:p.D219D,ANKS3:NM_001308089:exon8:c.T591C:p.D197D,ANKS3:NM_001324130:exon8:c.T108C:p.D36D,ANKS3:NM_133450:exon9:c.T978C:p.D326D
16 4802386 2 ZNF500 G T exonic synonymous SNV ZNF500:NM_021646:exon6:c.C1434A:p.A478A RS3747602 Total cholesterol change with statins:LDL cholesterol change with statins:Refractive error:Infant head circumference
16 4815608 2 ZNF500 A G exonic synonymous SNV ZNF500:NM_001303450:exon2:c.T372C:p.L124L,ZNF500:NM_021646:exon2:c.T372C:p.L124L
16 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 8722629 1 METTL22 G C exonic nonsynonymous SNV METTL22:NM_024109:exon3:c.G176C:p.W59S RS2270286 Gene expression of KIAA1002 in CEU lymphoblastoid cell lines:Gene expression of PRIM1 in CEU lymphoblastoid cell lines:HDL cholesterol change with statins:Chronic kidney disease:Serum creatinine:Gene expression of NOMO2 in peripheral blood monocytes:Gene expression of B2M in peripheral blood monocytes
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 8953081 1 CARHSP1 C G exonic synonymous SNV CARHSP1:NM_001042476:exon2:c.G105C:p.R35R,CARHSP1:NM_001278263:exon2:c.G105C:p.R35R,CARHSP1:NM_001278264:exon2:c.G105C:p.R35R,CARHSP1:NM_001278265:exon2:c.G105C:p.R35R,CARHSP1:NM_001278266:exon2:c.G105C:p.R35R,CARHSP1:NM_014316:exon2:c.G105C:p.R35R,CARHSP1:NM_001278260:exon3:c.G105C:p.R35R,CARHSP1:NM_001278261:exon3:c.G105C:p.R35R,CARHSP1:NM_001278262:exon3:c.G105C:p.R35R
16 8999138 1 USP7 T C exonic synonymous SNV USP7:NM_001286457:exon14:c.A1431G:p.A477A,USP7:NM_001321858:exon14:c.A1305G:p.A435A,USP7:NM_003470:exon14:c.A1479G:p.A493A,USP7:NM_001286458:exon15:c.A1182G:p.A394A
16 10575824 1 ATF7IP2 C A exonic synonymous SNV ATF7IP2:NM_024997:exon12:c.C1767A:p.P589P RS1970817 Gene expression of ATF7IP2 in blood:Age at death with kuru exposure:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
16 11439496 1 RMI2 G A exonic synonymous SNV RMI2:NM_152308:exon1:c.G168A:p.A56A
16 11444572 1 RMI2 A C exonic synonymous SNV RMI2:NM_152308:exon2:c.A369C:p.T123T RS7204628 lysoPC a C16:0 / C12-DC:lysoPC a C16:0
16 11647492 1 LITAF T C exonic nonsynonymous SNV LITAF:NM_001136472:exon3:c.A274G:p.I92V,LITAF:NM_001136473:exon3:c.A274G:p.I92V,LITAF:NM_004862:exon3:c.A274G:p.I92V
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 11933678 1 RSL1D1 G C exonic synonymous SNV RSL1D1:NM_015659:exon8:c.C1020G:p.T340T
16 11940390 2 RSL1D1 T C exonic synonymous SNV RSL1D1:NM_015659:exon5:c.A603G:p.T201T
16 11969724 1 GSPT1 G C exonic synonymous SNV GSPT1:NM_001130006:exon14:c.C1752G:p.V584V,GSPT1:NM_001130007:exon14:c.C1341G:p.V447V,GSPT1:NM_002094:exon14:c.C1755G:p.V585V RS33657 Years of education:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
16 11981487 1 GSPT1 G A exonic synonymous SNV GSPT1:NM_001130006:exon7:c.C894T:p.G298G,GSPT1:NM_001130007:exon7:c.C483T:p.G161G,GSPT1:NM_002094:exon7:c.C897T:p.G299G RS3752426 HDL cholesterol:Barnes Akathisia Rating Scale:HDL cholesterol change with statins:Years of education:College completion
16 12009277 1 GSPT1 C A exonic nonsynonymous SNV GSPT1:NM_001130006:exon1:c.G301T:p.G101C,GSPT1:NM_002094:exon1:c.G301T:p.G101C
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 12009304 1 GSPT1 C A exonic nonsynonymous SNV GSPT1:NM_001130006:exon1:c.G274T:p.G92C,GSPT1:NM_002094:exon1:c.G274T:p.G92C
16 12758966 1 CPPED1 T C exonic nonsynonymous SNV CPPED1:NM_001099455:exon3:c.A296G:p.K99R,CPPED1:NM_018340:exon4:c.A722G:p.K241R RS1713480 Total cholesterol:Chronic kidney disease
16 12897578 1 CPPED1 G T exonic nonsynonymous SNV CPPED1:NM_001099455:exon1:c.C56A:p.A19D,CPPED1:NM_018340:exon1:c.C56A:p.A19D RS3748976 Triglycerides:Diastolic blood pressure (DBP):Advanced age-related macular degeneration
16 15042814 1 NPIPA1 T C exonic synonymous SNV NPIPA1:NM_006985:exon5:c.T465C:p.R155R
16 15680642 2 C16orf45 C T exonic synonymous SNV C16orf45:NM_001142469:exon6:c.C520T:p.L174L,C16orf45:NM_033201:exon6:c.C571T:p.L191L RS2071332 Gene expression of ZMYM3 in peripheral blood monocytes:Coronary artery disease (CAD)
16 15818141 2 MYH11 A C exonic synonymous SNV MYH11:NM_002474:exon31:c.T4242G:p.A1414A,MYH11:NM_022844:exon31:c.T4242G:p.A1414A,MYH11:NM_001040113:exon32:c.T4263G:p.A1421A,MYH11:NM_001040114:exon32:c.T4263G:p.A1421A RS2075511 Coronary artery disease (CAD), combined control dataset:Gene expression of probe 239307_at in lymphoblastoid cell lines:Total cholesterol:Autism:Late onset Alzheimer's disease:Gene expression of NDE1 in blood:Gene expression of MYH11 [probeset 239307_at] in sputum:Sporadic Creutzfeldt-Jakob disease:Parkinson's disease:Primary rhegmatogenous retinal detachment:Amyotrophic lateral sclerosis (ALS)
16 15961351 1 FOPNL T C exonic synonymous SNV FOPNL:NM_001304497:exon3:c.A249G:p.E83E,FOPNL:NM_001304500:exon4:c.A273G:p.E91E,FOPNL:NM_144600:exon5:c.A471G:p.E157E,FOPNL:NM_001304499:exon6:c.A543G:p.E181E
16 15961356 1 FOPNL C T exonic nonsynonymous SNV FOPNL:NM_001304497:exon3:c.G244A:p.E82K,FOPNL:NM_001304500:exon4:c.G268A:p.E90K,FOPNL:NM_144600:exon5:c.G466A:p.E156K,FOPNL:NM_001304499:exon6:c.G538A:p.E180K
16 16271357 2 ABCC6 T C exonic nonsynonymous SNV ABCC6:NM_001171:exon19:c.A2542G:p.M848V
16 16272670 2 ABCC6 T C exonic synonymous SNV ABCC6:NM_001171:exon18:c.A2400G:p.G800G
16 18823379 2 SMG1 T C exonic synonymous SNV SMG1:NM_015092:exon61:c.A10692G:p.Q3564Q
16 18839362 1 SMG1 T C exonic synonymous SNV SMG1:NM_015092:exon55:c.A9732G:p.A3244A RS12445870 2 hour glucose:Gene expression of SMG1 in peripheral blood monocytes:Gene expression of ARL6IP1 in peripheral blood monocytes:Waist hip ratio:Aortic valve calcium
16 18861335 1 SMG1 A G exonic synonymous SNV SMG1:NM_015092:exon35:c.T5397C:p.H1799H RS2650613 Gene expression of ARL6IP1 [probe 3683037] in peripheral blood mononuclear cells:2 hour glucose:Triglycerides change with statins:Total cholesterol:LDL cholesterol:Triglycerides:Waist hip ratio:Gene expression of RPS15A in blood:Aortic valve calcium:Advanced age-related macular degeneration:Tetrology of fallot
16 19041595 2 TMC7 G A exonic nonsynonymous SNV TMC7:NM_001160364:exon6:c.G431A:p.G144E,TMC7:NM_001300732:exon6:c.G761A:p.G254E,TMC7:NM_001324265:exon6:c.G761A:p.G254E,TMC7:NM_024847:exon6:c.G761A:p.G254E RS28583298 Prostate cancer
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 19725561 1 KNOP1 G A exonic nonsynonymous SNV KNOP1:NM_001012991:exon2:c.C797T:p.A266V,KNOP1:NM_001348527:exon2:c.C977T:p.A326V,KNOP1:NM_001348530:exon2:c.C797T:p.A266V,KNOP1:NM_001348531:exon2:c.C797T:p.A266V,KNOP1:NM_001348534:exon2:c.C797T:p.A266V,KNOP1:NM_001348535:exon2:c.C797T:p.A266V,KNOP1:NM_001348536:exon2:c.C797T:p.A266V,KNOP1:NM_001348528:exon3:c.C797T:p.A266V,KNOP1:NM_001348529:exon3:c.C797T:p.A266V,KNOP1:NM_001348532:exon3:c.C797T:p.A266V,KNOP1:NM_001348533:exon3:c.C797T:p.A266V,KNOP1:NM_001348537:exon3:c.C797T:p.A266V
16 20811681 1 ERI2 C T exonic synonymous SNV ERI2:NM_001142725:exon6:c.G504A:p.K168K,ERI2:NM_080663:exon6:c.G504A:p.K168K RS2301771 LDL cholesterol change with statins
16 20873767 1 DCUN1D3 T G exonic synonymous SNV DCUN1D3:NM_173475:exon2:c.A94C:p.R32R RS7187522 LDL cholesterol change with statins:Total cholesterol:Asthma
16 21190853 1 TMEM159 A C exonic nonsynonymous SNV TMEM159:NM_001301771:exon5:c.A462C:p.E154D,TMEM159:NM_020422:exon5:c.A462C:p.E154D,TMEM159:NM_001301769:exon6:c.A462C:p.E154D,TMEM159:NM_001301775:exon6:c.A534C:p.E178D RS1063087 Triglycerides change with statins:Acute lung injury following major trauma:Obesity with early age of onset (age >2):Gene expression of TMEM159 in normal prepouch ileum
16 22262514 2 EEF2K C A exonic synonymous SNV EEF2K:NM_013302:exon6:c.C489A:p.G163G RS2303186 Major depressive disorder:HDL cholesterol:Triglycerides:HDL cholesterol:Gene expression of POLR3E [transcript NM_018119, probe A_23_P152181] in liver:Comorbid depressive syndrome and alcohol dependence:Bipolar disorder
16 22269867 2 EEF2K A G exonic nonsynonymous SNV EEF2K:NM_013302:exon10:c.A1082G:p.Q361R
16 23489711 1 GGA2 C G exonic nonsynonymous SNV GGA2:NM_015044:exon13:c.G1270C:p.A424P RS1135045 Gene expression of GGA2 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of DCTN5 [probe 209232_s_at] in lymphoblastoid cell lines:Gene expression of COG7 [probe 213190_at] in lymphoblastoid cell lines:Gene expression of COG7 in lymphoblastoid cell lines:Gene expression of DCTN5 in lymphoblastoid cell lines:Birth weight
16 23536684 1 EARS2 T C exonic nonsynonymous SNV EARS2:NM_001083614:exon8:c.A1369G:p.S457G,EARS2:NM_001308211:exon8:c.A1369G:p.S457G RS6497671 Gene expression of COG7 [probe 213190_at] in lymphoblastoid cell lines:Differential exon level expression of GGA2 [probe 3685210] in brain cortex:Differential exon level expression of GGA2 [probe 3685210] in peripheral blood mononuclear cells:Gene expression of UBPH in CD4+ lymphocytes:Neuroblastoma (brain cancer):Gene expression of GGA2 in blood:Gene expression of COG7 in blood:Gene expression of DCTN5 in blood:Gene expression of DCTN5 in normal prepouch ileum
16 23546561 1 EARS2 G C exonic synonymous SNV EARS2:NM_001083614:exon4:c.C606G:p.V202V,EARS2:NM_001308211:exon4:c.C606G:p.V202V RS2073951 Gene expression of MGC3248 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of COG7 [probe 213190_at] in lymphoblastoid cell lines
16 23563501 1 EARS2 C T exonic synonymous SNV EARS2:NM_001083614:exon2:c.G264A:p.A88A,EARS2:NM_001308211:exon2:c.G264A:p.A88A RS7187920 Gene expression of GGA2 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of COG7 [probe 213190_at] in lymphoblastoid cell lines:Gene expression of DCTN5 [probe 209232_s_at] in lymphoblastoid cell lines:Gene expression of DCTN5 in lymphoblastoid cell lines:Gene expression of COG7 in lymphoblastoid cell lines:Bipolar disorder:Major depressive disorder and bipolar disorder combined analysis:Gene expression of DCTN5 in normal prepouch ileum:Birth weight:Bipolar disorder
16 23607504 1 NDUFAB1 G C exonic synonymous SNV NDUFAB1:NM_005003:exon1:c.C108G:p.L36L RS466719 PROP taste detection threshold
16 23677006 1 DCTN5 A G exonic synonymous SNV DCTN5:NM_001199743:exon5:c.A408G:p.P136P,DCTN5:NM_032486:exon5:c.A408G:p.P136P RS35586 Gene expression of MGC3248 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Total cholesterol:HDL cholesterol
16 24834233 1 TNRC6A C T exonic synonymous SNV TNRC6A:NM_001330520:exon23:c.C5265T:p.H1755H,TNRC6A:NM_014494:exon24:c.C5412T:p.H1804H RS2303085 Rheumatoid arthritis:LDL cholesterol change with statins:Height:Systolic blood pressure (SBP):Age at death with kuru exposure:College completion:Tetrology of fallot
16 27238110 1 NSMCE1 C T exonic synonymous SNV NSMCE1:NM_145080:exon6:c.G531A:p.E177E
16 27357927 1 IL4R C T exonic nonsynonymous SNV IL4R:NM_001257997:exon5:c.C26T:p.T9M RS2234895 Allele-specific methylation and blood gene expression of 242743_at:Rheumatoid arthritis:Gene expression of IL4R in peripheral blood monocytes
16 27373980 1 IL4R C T exonic nonsynonymous SNV IL4R:NM_001257406:exon10:c.C1307T:p.S436L,IL4R:NM_001257997:exon10:c.C827T:p.S276L,IL4R:NM_000418:exon11:c.C1307T:p.S436L,IL4R:NM_001257407:exon11:c.C1262T:p.S421L RS1805013 HDL cholesterol:Triglycerides:Birth weight
16 27374180 1 IL4R T C exonic nonsynonymous SNV IL4R:NM_001257406:exon10:c.T1507C:p.S503P,IL4R:NM_001257997:exon10:c.T1027C:p.S343P,IL4R:NM_000418:exon11:c.T1507C:p.S503P,IL4R:NM_001257407:exon11:c.T1462C:p.S488P RS1805015 Eye color:Cystatin C in serum:Waist hip ratio:Gene expression of IL4R in blood:IgE in plasma:Sporadic Creutzfeldt-Jakob disease:Asthma exacerbation
16 27374400 2 IL4R A G exonic nonsynonymous SNV IL4R:NM_001257406:exon10:c.A1727G:p.Q576R,IL4R:NM_001257997:exon10:c.A1247G:p.Q416R,IL4R:NM_000418:exon11:c.A1727G:p.Q576R,IL4R:NM_001257407:exon11:c.A1682G:p.Q561R RS1801275 Total cholesterol:Gene expression of IL4R in blood:IgE in plasma:Birth weight
16 27374927 1 IL4R T G exonic nonsynonymous SNV IL4R:NM_001257406:exon10:c.T2254G:p.S752A,IL4R:NM_001257997:exon10:c.T1774G:p.S592A,IL4R:NM_000418:exon11:c.T2254G:p.S752A,IL4R:NM_001257407:exon11:c.T2209G:p.S737A RS1805016 Birth weight
16 28123226 1 XPO6 G A exonic synonymous SNV XPO6:NM_015171:exon17:c.C2253T:p.H751H,XPO6:NM_001270940:exon18:c.C2211T:p.H737H RS205384 HOMA-IR:HDL cholesterol change with statins:Years of education:Gene expression of XPO6 (probeID ILMN_1755235) in temporal cortex in Alzheimer's disease cases and controls:College completion
16 28603655 1 SULT1A2 T G exonic nonsynonymous SNV SULT1A2:NM_001054:exon7:c.A704C:p.N235T,SULT1A2:NM_177528:exon7:c.A704C:p.N235T RS1059491 Nonsyndromic striae distensae (stretch marks)
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 28617514 1 SULT1A1 C T exonic nonsynonymous SNV SULT1A1:NM_177536:exon5:c.G404A:p.R135H,SULT1A1:NM_177534:exon6:c.G638A:p.R213H,SULT1A1:NM_001055:exon7:c.G638A:p.R213H,SULT1A1:NM_177529:exon7:c.G638A:p.R213H,SULT1A1:NM_177530:exon7:c.G638A:p.R213H
16 28618389 1 SULT1A1 C T exonic nonsynonymous SNV SULT1A1:NM_177536:exon3:c.G148A:p.V50I,SULT1A1:NM_177534:exon4:c.G382A:p.V128I,SULT1A1:NM_001055:exon5:c.G382A:p.V128I,SULT1A1:NM_177529:exon5:c.G382A:p.V128I,SULT1A1:NM_177530:exon5:c.G382A:p.V128I
16 28619911 1 SULT1A1 T C exonic synonymous SNV SULT1A1:NM_177534:exon2:c.A162G:p.V54V,SULT1A1:NM_001055:exon3:c.A162G:p.V54V,SULT1A1:NM_177529:exon3:c.A162G:p.V54V,SULT1A1:NM_177530:exon3:c.A162G:p.V54V
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 28883241 1 SH2B1 A G exonic nonsynonymous SNV SH2B1:NM_001308294:exon5:c.A442G:p.T148A,SH2B1:NM_015503:exon5:c.A1450G:p.T484A,SH2B1:NM_001145795:exon6:c.A1450G:p.T484A,SH2B1:NM_001145796:exon6:c.A1450G:p.T484A,SH2B1:NM_001145797:exon6:c.A1450G:p.T484A,SH2B1:NM_001145812:exon6:c.A1450G:p.T484A,SH2B1:NM_001308293:exon8:c.A1450G:p.T484A RS7498665 Gene expression of EIF3CL [probe 210949_s_at] in lymphoblastoid cell lines:Gene expression of EIF3C [probe 210949_s_at] in lymphoblastoid cell lines:Gene expression of EIF3CL [probe 215230_x_at] in lymphoblastoid cell lines:Gene expression of EIF3C [probe 215230_x_at] in lymphoblastoid cell lines:Gene expression of EIF3CL [probe 200647_x_at] in lymphoblastoid cell lines:Gene expression of EIF3C [probe 200647_x_at] in lymphoblastoid cell lines:Eye color:Irritible bowel syndrome:Body mass index (BMI):Weight:Obesity (body mass index (BMI)):Type 2 diabetes:EIF3C expression for Blood tissue:SH2B1 expression for Adipose tissue:SULT1A1 expression for Blood tissue:EIF3C expression for Adipose tissue:SULT1A2 expression for Adipose tissue:SULT1A1 expression for Adipose tissue:SULT1A2 expression for Blood tissue:APOB48R expression for Adipose tissue:Body mass index (BMI):Percent body fat:Overweight (body mass index (BMI)):Obesity (body mass index (BMI)):Weight:EIF3S8 expression in Lymphocytes:TUFM expression in Lymphocytes:Schizophrenia:Differential exon level expression of TUFM [probe 3686736] in peripheral blood mononuclear cells:Differential exon level expression of TUFM [probe 3686740] in peripheral blood mononuclear cells:Differential exon level expression of TUFM [probe 3686732] in peripheral blood mononuclear cells:Gene expression of TUFM [probe 3686728] in peripheral blood mononuclear cells:Differential exon level expression of TUFM [probe 3686739] in peripheral blood mononuclear cells:Differential exon level expression of TUFM [probe 3686730] in peripheral blood mononuclear cells:Differential exon level expression of TUFM [probe 3686743] in peripheral blood mononuclear cells:Differential exon level expression of TUFM [probe 3686735] in peripheral blood mononuclear cells:Differential exon level expression of TUFM [probe 3686741] in peripheral blood mononuclear cells:Premature ovarian failure:Extreme obesity (body mass index (BMI)):Waist circumference:Waist hip ratio:Fasting insulin:HOMA-IR:HOMA-B:Body mass index (BMI) (adolescents):Rheumatoid arthritis:Methylation levels at chr16:28797601-28797651 [hg18 coord, probe cg00000292] in Frontal cortex:Methylation levels at chr16:28797601-28797651 [hg18 coord, probe cg00000292] in Temporal cortex:Methylation levels at chr16:28797601-28797651 [hg18 coord, probe cg00000292] in Caudal pons:Methylation levels at chr16:28797601-28797651 [hg18 coord, probe cg00000292] in Cerebellum:HDL cholesterol:Body mass index (BMI):Body mass index (BMI) (genotype x age interactions):Body mass index (BMI) (study year x genotype interaction):Microalbuminuria:Percent fat (bioelectric impedance measure):Percent body fat:Gene expression of SPNS1///LAT in blood:Gene expression of LAT in blood:Gene expression of TUFM in blood:Gene expression of NEK11 in blood:Obesity (body mass index (BMI)):Body mass index (BMI):Bipolar disorder:Obesity with early age of onset (age >2):Nonsyndromic striae distensae (stretch marks):Obesity class:Years of education:Body mass index (BMI):College completion:Salmonella-induced pyroptosis:Body mass index (BMI) >25 kg/m2:Parkinson's disease
16 28995145 1 SPNS1 C T exonic synonymous SNV SPNS1:NM_001142449:exon9:c.C1137T:p.F379F,SPNS1:NM_001142451:exon10:c.C1203T:p.F401F,SPNS1:NM_032038:exon11:c.C1359T:p.F453F,SPNS1:NM_001142448:exon12:c.C1359T:p.F453F,SPNS1:NM_001142450:exon12:c.C1140T:p.F380F RS4788114 Rheumatoid arthritis:Diastolic blood pressure (DBP)
16 29708350 2 QPRT A G exonic nonsynonymous SNV QPRT:NM_001318249:exon2:c.A148G:p.T50A,QPRT:NM_001318250:exon3:c.A139G:p.T47A,QPRT:NM_014298:exon3:c.A583G:p.T195A
16 29811319 2 KIF22 C T exonic synonymous SNV KIF22:NM_001256270:exon8:c.C1026T:p.I342I,KIF22:NM_007317:exon8:c.C1230T:p.I410I,KIF22:NM_001256269:exon9:c.C1026T:p.I342I
16 29814234 2 KIF22 G A exonic synonymous SNV KIF22:NM_001256270:exon9:c.G1221A:p.V407V,KIF22:NM_007317:exon9:c.G1425A:p.V475V,KIF22:NM_001256269:exon10:c.G1221A:p.V407V
16 29825126 2 PRRT2 T C exonic synonymous SNV PRRT2:NM_001256442:exon2:c.T751C:p.L251L,PRRT2:NM_001256443:exon2:c.T751C:p.L251L,PRRT2:NM_145239:exon2:c.T751C:p.L251L
16 29994922 1 TAOK2 C T exonic synonymous SNV TAOK2:NM_001252043:exon13:c.C1359T:p.S453S,TAOK2:NM_004783:exon13:c.C1359T:p.S453S,TAOK2:NM_016151:exon13:c.C1359T:p.S453S RS3814883 LDL cholesterol:Gene expression of SEZ6L2 in Cerebellum:Gene expression of SEZ6L2 in Frontal cortex:LDL cholesterol:Height:Body mass index (BMI):Suicide attempts in major depressive disorder:Parkinson's disease
16 30097630 2 TBX6 C T exonic synonymous SNV TBX6:NM_004608:exon9:c.G1227A:p.P409P RS2289292 Body mass index (BMI):Gene expression of GDPD3 [transcript NM_024307, probe A_23_P26511] in liver:Obesity with early age of onset (age >2)
16 30198151 2 CORO1A A G exonic synonymous SNV CORO1A:NM_007074:exon4:c.A336G:p.P112P,CORO1A:NM_001193333:exon5:c.A336G:p.P112P
16 30364885 1 CD2BP2 C T exonic synonymous SNV CD2BP2:NM_001243646:exon4:c.G612A:p.G204G,CD2BP2:NM_006110:exon5:c.G612A:p.G204G
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 30666367 1 PRR14 C T exonic nonsynonymous SNV PRR14:NM_001320464:exon8:c.C1076T:p.P359L,PRR14:NM_024031:exon8:c.C1076T:p.P359L RS3747481 Stabilized warfarin dose:Acenocoumarol (warfarin) maintenance dose:Alzheimer's disease:Rheumatoid arthritis:Triglycerides:Waist hip ratio:Gene expression of FLJ32130 [probe ILMN_12097] in osteoblasts treated with BMP2:Gene expression of AC093249.4 in blood:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
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 30999142 1 HSD3B7 A G exonic nonsynonymous SNV HSD3B7:NM_025193:exon7:c.A748G:p.T250A RS9938550 Infant head circumference:Parkinson's disease
16 30999462 1 HSD3B7 T C exonic synonymous SNV HSD3B7:NM_025193:exon7:c.T1068C:p.R356R RS2305880 Triglycerides:Triglycerides:Gene expression of HSD3B7 in normal prepouch ileum:Red blood cell count (RBC):Gene expression of VKORC1 in normal prepouch ileum:Infant head circumference:Parkinson's disease
16 31073208 1 ZNF668 C T exonic synonymous SNV ZNF668:NM_001172668:exon3:c.G1041A:p.A347A,ZNF668:NM_001172670:exon3:c.G1041A:p.A347A,ZNF668:NM_024706:exon3:c.G1041A:p.A347A,ZNF668:NM_001172669:exon4:c.G1110A:p.A370A
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 31088347 1 ZNF646 G A exonic synonymous SNV ZNF646:NM_014699:exon2:c.G702A:p.E234E RS749671 Triglycerides:HDL cholesterol:Total cholesterol:LDL cholesterol:Triglycerides:Body mass index (BMI):Dose change in phenprocoumon (warfarin) in mg/week per allele:Bipolar disorder:Parkinson's disease:Gene expression of PRSS53 in normal prepouch ileum:Gene expression of ZNF668 (ENSG00000167394) in dendritic cells:Gene expression of ZNF668 (ENSG00000167394) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of VKORC1 in normal prepouch ileum
16 31090407 1 ZNF646 G C exonic nonsynonymous SNV ZNF646:NM_014699:exon2:c.G2762C:p.G921A
16 31096164 1 PRSS53 G C exonic nonsynonymous SNV PRSS53:NM_001039503:exon8:c.C1216G:p.P406A RS7199949 LDL cholesterol:Total cholesterol:Triglycerides:Body mass index (BMI):Parkinson's disease:Infant head circumference
16 31121793 1 BCKDK G A exonic synonymous SNV BCKDK:NM_001122957:exon7:c.G615A:p.T205T,BCKDK:NM_001271926:exon7:c.G615A:p.T205T,BCKDK:NM_005881:exon7:c.G615A:p.T205T RS14235 Triglycerides:HDL cholesterol:LDL cholesterol:Total cholesterol:Triglycerides:Body mass index (BMI):Dose change in phenprocoumon (warfarin) in mg/week per allele:Bipolar disorder:Gene expression of PRSS53 in normal prepouch ileum:Gene expression of VKORC1 in normal prepouch ileum:Parkinson's disease
16 31141826 2 KAT8 A G exonic synonymous SNV KAT8:NM_032188:exon9:c.A1056G:p.P352P,KAT8:NM_182958:exon9:c.A1056G:p.P352P
16 31141880 2 KAT8 A G exonic synonymous SNV KAT8:NM_032188:exon9:c.A1110G:p.L370L,KAT8:NM_182958:exon9:c.A1110G:p.L370L
16 31153105 2 PRSS36 A G exonic synonymous SNV PRSS36:NM_001258290:exon11:c.T1683C:p.D561D,PRSS36:NM_001258291:exon11:c.T1698C:p.D566D,PRSS36:NM_173502:exon11:c.T1698C:p.D566D
16 31195279 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 39921444 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 50106594 2 HEATR3 T C exonic synonymous SNV HEATR3:NM_182922:exon5:c.T591C:p.F197F,HEATR3:NM_001329729:exon6:c.T240C:p.F80F,HEATR3:NM_001329730:exon6:c.T240C:p.F80F RS2287197 Irritible bowel syndrome:Gene expression of YP01_HUMAN in blood cells in Celiac disease:Schizophrenia:Gene expression of HEATR3 [probe 3659888] in peripheral blood mononuclear cells:High-grade glioma:Fasting blood glucose:Total cholesterol change with statins:Gene expression of FLJ20718 in CD4+ lymphocytes:Waist hip ratio:Neuroblastoma (brain cancer):Gene expression of HEATR3 in blood:Comorbid depressive syndrome and alcohol dependence:PROP taste detection threshold:Parkinson's disease:Gene expression of HEATR3 (probeID ILMN_1808219) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of HEATR3 (probeID ILMN_1808219) in cerebellum in non-Alzheimer's disease samples:Primary rhegmatogenous retinal detachment:Gene expression of HEATR3 (probeID ILMN_1808219) in cerebellum in Alzheimer's disease cases:Gene expression of HEATR3 (probeID ILMN_1808219) in temporal cortex in Alzheimer's disease cases:Gene expression of HEATR3 (probeID ILMN_1808219) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of HEATR3 (probeID ILMN_1808219) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of HEATR3 (probeID ILMN_1808219) in cerebellum in Alzheimer's disease cases and controls
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 52473263 1 TOX3 A G exonic synonymous SNV TOX3:NM_001080430:exon7:c.T1605C:p.P535P,TOX3:NM_001146188:exon8:c.T1590C:p.P530P RS9925256 Irritible bowel syndrome:Triglycerides change with statins:LDL cholesterol:Chronic kidney disease:Serum creatinine
16 53503934 1 RBL2 G A exonic synonymous SNV RBL2:NM_001323608:exon15:c.G2082A:p.T694T,RBL2:NM_001323609:exon15:c.G2082A:p.T694T,RBL2:NM_001323610:exon15:c.G2082A:p.T694T,RBL2:NM_001323611:exon15:c.G1860A:p.T620T,RBL2:NM_005611:exon15:c.G2082A:p.T694T
16 53503943 1 RBL2 C G exonic synonymous SNV RBL2:NM_001323608:exon15:c.C2091G:p.R697R,RBL2:NM_001323609:exon15:c.C2091G:p.R697R,RBL2:NM_001323610:exon15:c.C2091G:p.R697R,RBL2:NM_001323611:exon15:c.C1869G:p.R623R,RBL2:NM_005611:exon15:c.C2091G:p.R697R
16 53504721 1 RBL2 T C exonic synonymous SNV RBL2:NM_001323608:exon17:c.T2590C:p.L864L,RBL2:NM_001323609:exon17:c.T2590C:p.L864L,RBL2:NM_001323610:exon17:c.T2443C:p.L815L,RBL2:NM_001323611:exon17:c.T2368C:p.L790L,RBL2:NM_005611:exon17:c.T2590C:p.L864L RS10748 Gene expression of RBL2 [probe 212332_at] in lymphoblastoid cell lines:2 hour glucose:College completion:Aortic valve calcium:Years of education:Gene expression of RBL2 (ENSG00000103479) in dendritic cells
16 54318528 2 IRX3 A G exonic nonsynonymous SNV IRX3:NM_024336:exon2:c.T1265C:p.L422P
16 56548501 2 BBS2 C T exonic nonsynonymous SNV BBS2:NM_031885:exon2:c.G209A:p.S70N
16 57016092 2 CETP G A exonic nonsynonymous SNV CETP:NM_001286085:exon13:c.G1084A:p.V362I,CETP:NM_000078:exon14:c.G1264A:p.V422I RS5882 HDL cholesterol:Eye color:Rheumatoid arthritis:HDL cholesterol:HDL cholesterol:HDL cholesterol:HDL cholesterol:APOA1 (apolipoprotein AI):HDL cholesterol:Major depressive disorder (broad definition) (females):Major depressive disorder (broad definition):HDL cholesterol:LDL cholesterol:Total cholesterol:HDL cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio:Rheumatoid arthritis:HDL cholesterol (modeled HDL cholesterol):HDL cholesterol (median HDL cholesterol):Variant Creutzfeldt-Jakob disease:HDL cholesterol:Paternal transmission distortion:Schizophrenia:Advanced age-related macular degeneration:Birth weight:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
16 57068107 2 NLRC5 C T exonic synonymous SNV NLRC5:NM_032206:exon12:c.C2571T:p.H857H,NLRC5:NM_001330552:exon13:c.C2571T:p.H857H
16 57499902 2 POLR2C T C exonic synonymous SNV POLR2C:NM_032940:exon3:c.T174C:p.V58V RS4937 LDL cholesterol:Mitral annular calcium
16 57619648 2
16 57689883 1 ADGRG1 T C exonic synonymous SNV ADGRG1:NM_001145773:exon7:c.T1011C:p.T337T,ADGRG1:NM_001290142:exon7:c.T486C:p.T162T,ADGRG1:NM_001290143:exon7:c.T471C:p.T157T,ADGRG1:NM_001290144:exon7:c.T471C:p.T157T,ADGRG1:NM_201525:exon7:c.T996C:p.T332T,ADGRG1:NM_001145770:exon8:c.T996C:p.T332T,ADGRG1:NM_001145771:exon8:c.T996C:p.T332T,ADGRG1:NM_001145772:exon8:c.T996C:p.T332T,ADGRG1:NM_001145774:exon8:c.T996C:p.T332T,ADGRG1:NM_005682:exon8:c.T996C:p.T332T,ADGRG1:NM_201524:exon8:c.T996C:p.T332T RS1376041 Hip bone mineral density (BMD):Multiple sclerosis:2 hour glucose:Gene expression of GPR56 in blood:Parkinson's disease
16 57722328 2 ADGRG3 C T exonic synonymous SNV ADGRG3:NM_001308360:exon11:c.C1245T:p.S415S,ADGRG3:NM_170776:exon12:c.C1605T:p.S535S RS12444859 Fasting blood glucose:HDL cholesterol
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 58549932 1 SETD6 T C exonic synonymous SNV SETD6:NM_001160305:exon2:c.T265C:p.L89L,SETD6:NM_024860:exon3:c.T193C:p.L65L RS4784046 HDL cholesterol:Birth weight
16 58552921 1 SETD6 G A exonic synonymous SNV SETD6:NM_001160305:exon8:c.G1410A:p.E470E,SETD6:NM_024860:exon9:c.G1338A:p.E446E
16 58575489 1 CNOT1 G A exonic synonymous SNV CNOT1:NM_001265612:exon34:c.C4701T:p.Y1567Y,CNOT1:NM_016284:exon34:c.C4716T:p.Y1572Y
16 58577421 1 CNOT1 C T exonic synonymous SNV CNOT1:NM_206999:exon31:c.G4524A:p.A1508A RS41260 Barnes Akathisia Rating Scale:Gene expression of CNOT1 [probe 200860_s_at] in prefrontal cortex:Lp-PLA2 mass:Coronary artery disease (CAD):Gene expression of NDRG4 (probeID ILMN_2305225) in breast tumors:Refractive error
16 58587737 1 CNOT1 C T exonic synonymous SNV CNOT1:NM_001265612:exon22:c.G2904A:p.Q968Q,CNOT1:NM_016284:exon22:c.G2919A:p.Q973Q,CNOT1:NM_206999:exon22:c.G2919A:p.Q973Q RS11866002 Gene expression of SETD6///CNOT1 in blood:Gene expression of CNOT1 [probeset 200860_s_at] in sputum:Resistance to kuru in aged women despite likely exposure:Mitral annular calcium:Birth weight:Advanced age-related macular degeneration:Aortic valve calcium
16 58616984 1 CNOT1 T C exonic synonymous SNV CNOT1:NM_001265612:exon9:c.A909G:p.G303G,CNOT1:NM_016284:exon9:c.A909G:p.G303G,CNOT1:NM_206999:exon9:c.A909G:p.G303G
16 58743454 2 GOT2 A C exonic nonsynonymous SNV GOT2:NM_001286220:exon8:c.T908G:p.V303G,GOT2:NM_002080:exon9:c.T1037G:p.V346G RS30842 Eye color:Rheumatoid arthritis:Total cholesterol:Triglycerides:Bipolar disorder:Resistance to kuru in aged women despite likely exposure:Gene expression of SLC38A7 (ENSG00000103042) in dendritic cells:Gene expression of GOT2 in normal prepouch ileum
16 58750604 2 GOT2 G A exonic synonymous SNV GOT2:NM_001286220:exon6:c.C687T:p.C229C,GOT2:NM_002080:exon7:c.C816T:p.C272C
16 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 67316234 1 PLEKHG4 C T exonic nonsynonymous SNV PLEKHG4:NM_001129731:exon7:c.C992T:p.T331I,PLEKHG4:NM_001129728:exon9:c.C1235T:p.T412I,PLEKHG4:NM_001129729:exon9:c.C1235T:p.T412I,PLEKHG4:NM_001129727:exon10:c.C1235T:p.T412I RS11860295 Arthritis including non-Rheumatoid:Fasting blood glucose:Cystatin C in serum:HDL cholesterol:Height:Waist hip ratio:Gene expression of C16orf70 in blood:Gene expression of HSD11B2///ATP6V0D1 in blood:Gene expression of TRADD in blood:Birth weight
16 67318242 1 PLEKHG4 A G exonic nonsynonymous SNV PLEKHG4:NM_001129731:exon10:c.A1331G:p.D444G,PLEKHG4:NM_001129728:exon12:c.A1574G:p.D525G,PLEKHG4:NM_001129729:exon12:c.A1574G:p.D525G,PLEKHG4:NM_001129727:exon13:c.A1574G:p.D525G RS8044843 Rheumatoid arthritis:Fasting blood glucose:Chronic kidney disease:HDL cholesterol:Waist hip ratio:Urinary albumin-to-creatinine ratio:Gene expression of TRADD in blood:Gene expression of AC009061.7///ZDHHC1 in blood:Gene expression of LRRC29 in blood:Gene expression of HSD11B2///ATP6V0D1 in blood:Hypertension (early onset hypertension)
16 67320223 1 PLEKHG4 G A exonic nonsynonymous SNV PLEKHG4:NM_001129731:exon13:c.G2246A:p.R749H,PLEKHG4:NM_001129728:exon15:c.G2489A:p.R830H,PLEKHG4:NM_001129729:exon15:c.G2489A:p.R830H,PLEKHG4:NM_001129727:exon16:c.G2489A:p.R830H RS3868142 Arthritis including non-Rheumatoid:Fasting blood glucose:Cystatin C in serum:HDL cholesterol:Height:Waist hip ratio:Gene expression of C16orf70 in blood:Gene expression of TRADD in blood:Gene expression of HSD11B2///ATP6V0D1 in blood:Bipolar disorder:Birth weight
16 67469915 1 HSD11B2 G A exonic synonymous SNV HSD11B2:NM_000196:exon3:c.G534A:p.E178E
16 67696365 1 PARD6A G A exonic nonsynonymous SNV PARD6A:NM_001037281:exon3:c.G853A:p.V285I,PARD6A:NM_016948:exon3:c.G856A:p.V286I RS35356834 Gene expression of HSD11B2 [transcript NM_000196, probe A_23_P14986] in liver:Myopia
16 67867739 1 CENPT G T exonic nonsynonymous SNV CENPT:NM_025082:exon4:c.C24A:p.S8R RS11558534 Myopia
16 67911517 1 EDC4 T C exonic synonymous SNV EDC4:NM_014329:exon6:c.T747C:p.C249C RS8060686 HDL cholesterol:Gene expression of NUTF2 [probe 3665857] in brain cortex:Total cholesterol:HDL cholesterol:Waist hip ratio:HDL cholesterol:Bipolar disorder:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):HDL in metabolic styndrome subjects without diabetes:Transmission distortion:Red blood cell count (RBC)
16 67969531 1 PSMB10 A G exonic synonymous SNV PSMB10:NM_002801:exon5:c.T453C:p.G151G RS14178 Fasting blood glucose:Serum creatinine:Cystatin C in serum:Chronic kidney disease:Height:Myopia
16 67969930 1 PSMB10 A G exonic synonymous SNV PSMB10:NM_002801:exon4:c.T319C:p.L107L RS20549 HDL cholesterol:HDL cholesterol:Total cholesterol:Waist hip ratio:Advanced age-related macular degeneration:Red blood cell count (RBC):Advanced age-related macular degeneration (geographic atrophy):HDL cholesterol
16 67973953 1 LCAT G A exonic synonymous SNV LCAT:NM_000229:exon6:c.C1177T:p.L393L RS5923 Cystatin C in serum:Chronic kidney disease:Serum creatinine:Birth weight:Myopia:Parkinson's disease
16 67980969 1 SLC12A4 G C exonic synonymous SNV SLC12A4:NM_001145962:exon16:c.C2118G:p.L706L,SLC12A4:NM_001145961:exon17:c.C2112G:p.L704L,SLC12A4:NM_001145963:exon17:c.C2094G:p.L698L,SLC12A4:NM_001145964:exon17:c.C2019G:p.L673L,SLC12A4:NM_005072:exon17:c.C2112G:p.L704L RS11860125 Serum creatinine:Chronic kidney disease:Cystatin C in serum:Height:Myopia
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 68072004 1 DUS2 A G exonic synonymous SNV DUS2:NM_001271762:exon2:c.A78G:p.P26P,DUS2:NM_001271763:exon3:c.A78G:p.P26P,DUS2:NM_017803:exon3:c.A78G:p.P26P RS11555012 Myopia
16 68293320 1 PLA2G15 T C exonic synonymous SNV PLA2G15:NM_012320:exon6:c.T999C:p.G333G RS3743739 HDL cholesterol:Fasting blood glucose:Autism without verbal ability:Total cholesterol:HDL cholesterol:Red blood cell count (RBC):HDL cholesterol:Gene expression of SLC7A6OS (ENSG00000103061) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of PRMT7 (ENSG00000132600) in dendritic cells treated with Mycobacterium tuberculosis
16 68344696 1 SLC7A6OS C T exonic nonsynonymous SNV SLC7A6OS:NM_032178:exon1:c.G134A:p.G45D RS3803650 Arthritis including non-Rheumatoid:Longstanding arthritis:Schizophrenia:Serum creatinine:Gene expression of SLC7A6 in peripheral blood monocytes:HDL cholesterol:Neuroblastoma (brain cancer):Gene expression of PRMT7 in blood:Gene expression of ZFP90 in blood:Gene expression of SLC7A6 in blood:Gene expression of SLC7A6///SLC7A6OS in blood:Gene expression of PRMT7 in liver:Maternal transmission distortion
16 69354963 1 VPS4A A G exonic synonymous SNV VPS4A:NM_013245:exon9:c.A861G:p.K287K RS1127231 Hip bone mineral density (BMD):Differential exon level expression of NIP7 [probe 3666699] in brain cortex:Gene expression of NIP7 [probe ILMN_28300] in osteoblasts:Gene expression of PDF in CD4+ lymphocytes:Gene expression of NIP7 [probe ILMN_28300] in osteoblasts treated with dexamethasone:Gene expression of NIP7 [probe ILMN_28300] in osteoblasts treated with BMP2:Gene expression of SNTB2 in blood:Gene expression of TERF2 in blood:Gene expression of NIP7///TMED6 in blood:Gene expression of PDF in blood:Gene expression of TMED6 in normal prepouch ileum:Advanced age-related macular degeneration (geographic atrophy):Parkinson's disease
16 69782855 1 NOB1 C T exonic nonsynonymous SNV NOB1:NM_014062:exon6:c.G692A:p.R231Q RS3811348 Gene expression of LOC283970 in CHB-JPT lymphoblastoid cell lines:Fasting insulin:HOMA-B:Serum creatinine:Height:Adiponectin levels
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 70190401 1 PDPR C T exonic synonymous SNV PDPR:NM_001322118:exon17:c.C1959T:p.D653D,PDPR:NM_001322119:exon17:c.C1053T:p.D351D,PDPR:NM_001322117:exon19:c.C2259T:p.D753D,PDPR:NM_017990:exon19:c.C2259T:p.D753D
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 70303580 1 AARS G A exonic synonymous SNV AARS:NM_001605:exon7:c.C903T:p.H301H RS2070203 Gene expression of EXOSC6 [probe 3697005] in peripheral blood mononuclear cells:Differential exon level expression of EXOSC6 [probe 3697007] in peripheral blood mononuclear cells:Gene expression of EXOSC6 [probe 3697005] in brain cortex:EXOSC6 gene expression in HIV-infected CD4+ T cells:HDL cholesterol change with statins:Asthma:Height:Body mass index (BMI):Gene expression of PDPR in liver:Gene expression of EXOSC6 [probeset 1558044_s_at] in sputum:PROP taste detection threshold:Variant Creutzfeldt-Jakob disease:Gene expression of EXOSC6 in normal prepouch ileum:Gene expression of EXOSC6 (probeID ILMN_1670218) in cerebellum in Alzheimer's disease cases and controls:Schizophrenia:Gene expression of EXOSC6 (probeID ILMN_1670218) in temporal cortex in Alzheimer's disease cases and controls
16 70395387 1 DDX19A C T exonic synonymous SNV DDX19A:NM_018332:exon5:c.C360T:p.N120N,DDX19A:NM_001320525:exon6:c.C90T:p.N30N RS1134074 HDL cholesterol change with statins:Triglycerides change with statins
16 70515355 1 COG4 C T exonic synonymous SNV COG4:NM_001195139:exon17:c.G2079A:p.S693S,COG4:NM_015386:exon18:c.G2142A:p.S714S
16 70546234 1 COG4 G A exonic synonymous SNV COG4:NM_001195139:exon5:c.C646T:p.L216L,COG4:NM_015386:exon5:c.C646T:p.L216L RS3762171 Gene expression of LOC283970 in CEU lymphoblastoid cell lines:College completion
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 70602221 1 SF3B3 C T exonic synonymous SNV SF3B3:NM_012426:exon22:c.C2988T:p.I996I
16 70605093 1 SF3B3 C T exonic synonymous SNV SF3B3:NM_012426:exon25:c.C3504T:p.F1168F
16 70690989 2 IL34 G C exonic nonsynonymous SNV IL34:NM_001172771:exon5:c.G364C:p.E122Q,IL34:NM_001172772:exon5:c.G367C:p.E123Q,IL34:NM_152456:exon5:c.G367C:p.E123Q RS8046424 HDL cholesterol change with statins:Triglycerides change with statins:HDL cholesterol change with statins:PROP taste detection threshold:College completion
16 71318577 2 CMTR2 T C exonic nonsynonymous SNV CMTR2:NM_001324378:exon2:c.A1247G:p.N416S,CMTR2:NM_001324379:exon2:c.A1247G:p.N416S,CMTR2:NM_001099642:exon3:c.A1247G:p.N416S,CMTR2:NM_001324374:exon3:c.A1247G:p.N416S,CMTR2:NM_001324377:exon3:c.A1247G:p.N416S,CMTR2:NM_018348:exon3:c.A1247G:p.N416S RS3803704 LDL cholesterol:LDL cholesterol:Total cholesterol:Sporadic Creutzfeldt-Jakob disease:College completion
16 71319539 2 CMTR2 C T exonic synonymous SNV CMTR2:NM_001324378:exon2:c.G285A:p.A95A,CMTR2:NM_001324379:exon2:c.G285A:p.A95A,CMTR2:NM_001099642:exon3:c.G285A:p.A95A,CMTR2:NM_001324374:exon3:c.G285A:p.A95A,CMTR2:NM_001324377:exon3:c.G285A:p.A95A,CMTR2:NM_018348:exon3:c.G285A:p.A95A RS3826247 LDL cholesterol:LDL cholesterol:Total cholesterol:Gene expression of AC106736.3 in blood:Obesity with early age of onset (age >2):Hypertension (early onset hypertension):Refractive error
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 71509085 1 ZNF19 G C exonic synonymous SNV ZNF19:NM_006961:exon6:c.C1365G:p.P455P
16 71509685 2 ZNF19 C G exonic synonymous SNV ZNF19:NM_006961:exon6:c.G765C:p.T255T RS2288489 Gene expression of ZNF449 in peripheral blood monocytes:Waist hip ratio
16 71509796 2 ZNF19 C G exonic nonsynonymous SNV ZNF19:NM_006961:exon6:c.G654C:p.Q218H RS8050871 HDL cholesterol:Waist hip ratio
16 71682796 2 PHLPP2 T C exonic synonymous SNV PHLPP2:NM_001289003:exon18:c.A3768G:p.L1256L,PHLPP2:NM_015020:exon19:c.A3969G:p.L1323L RS61733125 Serum Phe/Tyr:Serum Ala/Tyr
16 71773190 2 AP1G1 G T exonic nonsynonymous SNV AP1G1:NM_001128:exon20:c.C2054A:p.P685H,AP1G1:NM_001030007:exon21:c.C2063A:p.P688H RS904763 Hip bone mineral density (BMD):Methylation levels at chrX:64112953-64113003 [hg18 coord, probe cg23926715] in Temporal cortex:Late onset Alzheimer's disease:Gene expression of AP1G1 in blood:Age at death with kuru exposure:Aortic valve calcium:Serum Ala/Tyr:Serum Phe/Tyr
16 71950450 2 IST1 C T exonic synonymous SNV IST1:NM_001270975:exon3:c.C174T:p.H58H,IST1:NM_001270977:exon3:c.C174T:p.H58H,IST1:NM_014761:exon3:c.C174T:p.H58H,IST1:NM_001270976:exon4:c.C213T:p.H71H
16 72130203 2 DHX38 C G exonic synonymous SNV DHX38:NM_014003:exon2:c.C147G:p.L49L RS1050361 Gene expression of DHX38 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Triglycerides:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Cerebellum:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Temporal cortex:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Frontal cortex:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Caudal pons:Total cholesterol:LDL cholesterol:Triglycerides:Body mass index (BMI):Obesity (body mass index (BMI)):Coronary artery disease (CAD):Advanced age-related macular degeneration (geographic atrophy):Gene expression of DHX38 (ENSG00000140829) in dendritic cells
16 72130815 2 DHX38 C A exonic synonymous SNV DHX38:NM_014003:exon3:c.C418A:p.R140R RS1050362 Gene expression of DHX38 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Triglycerides:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Caudal pons:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Frontal cortex:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Cerebellum:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Temporal cortex:Triglycerides:LDL cholesterol:Total cholesterol:Body mass index (BMI):Obesity (body mass index (BMI)):Body mass index (BMI):Coronary artery disease (CAD):Gene expression of DHX38 in normal prepouch ileum:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
16 72135014 1 DHX38 T C exonic synonymous SNV DHX38:NM_014003:exon10:c.T1308C:p.A436A RS1050363 Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Cerebellum:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Frontal cortex:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Temporal cortex:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Caudal pons:LDL cholesterol:Triglycerides:Total cholesterol:Coronary artery disease (CAD):Gene expression of DHX38 in normal prepouch ileum:Obesity with early age of onset (age >2)
16 72137561 1 DHX38 G A exonic synonymous SNV DHX38:NM_014003:exon13:c.G1698A:p.T566T RS2240243 Gene expression of DHX38 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Triglycerides:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Caudal pons:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Cerebellum:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Temporal cortex:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Frontal cortex:Gene expression of HP in peripheral blood monocytes:Gene expression of DHX38 in peripheral blood monocytes:LDL cholesterol:Triglycerides:Total cholesterol:Body mass index (BMI):Obesity (body mass index (BMI)):Body mass index (BMI):Gene expression of DHX38 in normal prepouch ileum:Aortic valve calcium:Coronary artery disease (CAD)
16 72139184 2 DHX38 C A exonic synonymous SNV DHX38:NM_014003:exon17:c.C2316A:p.A772A RS2074626 Gene expression of DHX38 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Triglycerides:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Caudal pons:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Frontal cortex:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Temporal cortex:Methylation levels at chr16:70646123-70646173 [hg18 coord, probe cg23815491] in Cerebellum:Triglycerides:LDL cholesterol:Total cholesterol:Body mass index (BMI):Body mass index (BMI):Obesity (body mass index (BMI)):Aortic valve calcium:Coronary artery disease (CAD):Gene expression of DHX38 in normal prepouch ileum
16 72991660 2 ZFHX3 C G exonic synonymous SNV ZFHX3:NM_006885:exon2:c.G2385C:p.P795P
16 74490556 1 GLG1 G A exonic synonymous SNV GLG1:NM_001145666:exon24:c.C3330T:p.Y1110Y,GLG1:NM_001145667:exon25:c.C3363T:p.Y1121Y,GLG1:NM_012201:exon25:c.C3363T:p.Y1121Y RS9945 Parkinson's disease
16 74499589 1 GLG1 G A exonic synonymous SNV GLG1:NM_001145666:exon18:c.C2619T:p.C873C,GLG1:NM_001145667:exon19:c.C2652T:p.C884C,GLG1:NM_012201:exon19:c.C2652T:p.C884C
16 74537591 1 GLG1 C T exonic synonymous SNV GLG1:NM_001145666:exon3:c.G579A:p.L193L,GLG1:NM_001145667:exon4:c.G612A:p.L204L,GLG1:NM_012201:exon4:c.G612A:p.L204L RS4887772 LDL cholesterol:2 hour glucose:Fasting blood glucose:Fasting insulin:Chronic kidney disease:Total cholesterol:Infant head circumference
16 74664810 1 RFWD3 A T exonic synonymous SNV RFWD3:NM_018124:exon10:c.T1623A:p.P541P
16 74695079 1 RFWD3 G T exonic nonsynonymous SNV RFWD3:NM_018124:exon2:c.C269A:p.T90N RS8058922 Height in controls:Schizophrenia:Differential exon level expression of GLG1 [probe 3699026] in brain cortex:Differential exon level expression of RFWD3 [probe 3699056] in brain cortex:2 hour glucose:Fasting blood glucose:Gene expression of RFWD3 in peripheral blood monocytes:Asthma:Gene expression of RFWD3 in blood:Gene expression of MLKL in blood:Gene expression of GLG1 in blood:Gene expression of HS.542999 (probeID ILMN_1899902) in breast tumors:Parkinson's disease:Paternal transmission distortion:Infant head circumference
16 75146266 1 LDHD G T exonic synonymous SNV LDHD:NM_153486:exon11:c.C1512A:p.G504G,LDHD:NM_194436:exon11:c.C1443A:p.G481G
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 75276583 1 BCAR1 G T exonic nonsynonymous SNV BCAR1:NM_001170715:exon2:c.C472A:p.P158T,BCAR1:NM_001170716:exon2:c.C472A:p.P158T,BCAR1:NM_001170717:exon2:c.C418A:p.P140T,BCAR1:NM_001170718:exon2:c.C418A:p.P140T,BCAR1:NM_001170719:exon2:c.C412A:p.P138T,BCAR1:NM_014567:exon2:c.C418A:p.P140T,BCAR1:NM_001170714:exon3:c.C556A:p.P186T
16 75276775 2 BCAR1 G A exonic nonsynonymous SNV BCAR1:NM_001170715:exon2:c.C280T:p.P94S,BCAR1:NM_001170716:exon2:c.C280T:p.P94S,BCAR1:NM_001170717:exon2:c.C226T:p.P76S,BCAR1:NM_001170718:exon2:c.C226T:p.P76S,BCAR1:NM_001170719:exon2:c.C220T:p.P74S,BCAR1:NM_014567:exon2:c.C226T:p.P76S,BCAR1:NM_001170714:exon3:c.C364T:p.P122S
16 75327916 2 CFDP1 A G exonic synonymous SNV CFDP1:NM_006324:exon7:c.T834C:p.L278L RS6624 Differential exon level expression of CFDP1 [probe 3699511] in peripheral blood mononuclear cells:Gene expression of FGF6 in peripheral blood monocytes:Gene expression of RHPN1 in peripheral blood monocytes:Gene expression of PPP5C in peripheral blood monocytes:Neuroblastoma (brain cancer):Gene expression of CFDP1 in blood:Systolic blood pressure (SBP):Birth weight
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 77228866 1 MON1B T C exonic synonymous SNV MON1B:NM_001286640:exon2:c.T672C:p.V224V,MON1B:NM_001286639:exon3:c.T783C:p.V261V,MON1B:NM_014940:exon4:c.T1110C:p.V370V RS2232504 Gene expression of HSRG1 probe [GI_38016939-S] in brain cortex with no Alzheimer's interaction:Gene expression of MON1B in peripheral blood monocytes:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Parkinson's disease
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 77769834 1 NUDT7 G A exonic nonsynonymous SNV NUDT7:NM_001105663:exon3:c.G299A:p.R100H,NUDT7:NM_001243657:exon3:c.G299A:p.R100H RS308925 Rheumatoid arthritis:Schizophrenia:Total cholesterol:HDL cholesterol change with statins:Mitral annular calcium:Years of education:College completion
16 81061827 2 CENPN G A exonic nonsynonymous SNV CENPN:NM_001270473:exon9:c.G802A:p.E268K,CENPN:NM_001270474:exon9:c.G760A:p.E254K,CENPN:NM_001100624:exon10:c.G862A:p.E288K,CENPN:NM_001100625:exon10:c.G862A:p.E288K RS2549887 Spine bone mineral density (BMD):Eye color:Serum creatinine:Gene expression of CENPN in blood:Gene expression of C16orf61 in blood:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Bipolar disorder:Gene expression of CENPN (probeID ILMN_1720526) in cerebellum in non-Alzheimer's disease samples:Gene expression of CENPN (probeID ILMN_1720526) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of CENPN (probeID ILMN_1720526) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of CENPN (probeID ILMN_1720526) in cerebellum in Alzheimer's disease cases:Gene expression of CENPN (probeID ILMN_1720526) in cerebellum in Alzheimer's disease cases and controls:Gene expression of CENPN (probeID ILMN_1720526) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CENPN (probeID ILMN_1720526) in temporal cortex in Alzheimer's disease cases:Paternal transmission distortion:Transmission distortion
16 81077915 2 ATMIN T C exonic synonymous SNV ATMIN:NM_001300728:exon4:c.T1344C:p.A448A,ATMIN:NM_015251:exon4:c.T1812C:p.A604A RS2257378 Triglycerides:Taste change in healthy volunteers in response to topiramate treatment (Less sweet)
16 81129822 2 GCSH G A exonic nonsynonymous SNV GCSH:NM_004483:exon1:c.C62T:p.S21L
16 83999033 1 OSGIN1 A G exonic synonymous SNV OSGIN1:NM_182981:exon6:c.A855G:p.S285S
16 83999261 1 OSGIN1 C A exonic synonymous SNV OSGIN1:NM_182981:exon6:c.C1083A:p.L361L
16 83999548 1 OSGIN1 T C exonic nonsynonymous SNV OSGIN1:NM_182981:exon6:c.T1370C:p.V457A
16 84115393 1 MBTPS1 G A exonic synonymous SNV MBTPS1:NM_003791:exon11:c.C1407T:p.L469L RS12933523 Chronic kidney disease:Systolic blood pressure (SBP):Birth weight
16 84158248 1 HSDL1 G C exonic nonsynonymous SNV HSDL1:NM_031463:exon6:c.C980G:p.S327C,HSDL1:NM_001146051:exon7:c.C815G:p.S272C RS4378600 Serum creatinine:Waist hip ratio:Adiponectin levels
16 84213652 1 TAF1C G A exonic synonymous SNV TAF1C:NM_001243158:exon10:c.C603T:p.P201P,TAF1C:NM_001243157:exon11:c.C603T:p.P201P,TAF1C:NM_001243160:exon11:c.C168T:p.P56P,TAF1C:NM_001243159:exon13:c.C372T:p.P124P,TAF1C:NM_005679:exon13:c.C1599T:p.P533P,TAF1C:NM_001243156:exon14:c.C1521T:p.P507P,TAF1C:NM_139353:exon14:c.C1317T:p.P439P
16 84217062 2 TAF1C C T exonic nonsynonymous SNV TAF1C:NM_001243156:exon4:c.G272A:p.C91Y,TAF1C:NM_005679:exon4:c.G272A:p.C91Y,TAF1C:NM_139353:exon4:c.G71A:p.C24Y
16 84520325 2 TLDC1 T C exonic synonymous SNV TLDC1:NM_020947:exon5:c.A870G:p.G290G RS431389 Serum creatinine
16 84520396 2 TLDC1 A G exonic nonsynonymous SNV TLDC1:NM_020947:exon5:c.T799C:p.C267R
16 84520537 2 TLDC1 T C exonic nonsynonymous SNV TLDC1:NM_020947:exon5:c.A658G:p.I220V
16 84691044 1 KLHL36 C T exonic synonymous SNV KLHL36:NM_001303451:exon3:c.C631T:p.L211L,KLHL36:NM_024731:exon3:c.C631T:p.L211L RS3751762 Comorbid depressive syndrome and alcohol dependence:Gene expression of KLHL36 (probeID ILMN_1703314) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of KLHL36 (probeID ILMN_1703314) in cerebellum in Alzheimer's disease cases and controls
16 84778685 1 USP10 A G exonic nonsynonymous SNV USP10:NM_005153:exon4:c.A598G:p.M200V,USP10:NM_001272075:exon5:c.A610G:p.M204V
16 84796603 1 USP10 A G exonic synonymous SNV USP10:NM_005153:exon9:c.A1563G:p.Q521Q,USP10:NM_001272075:exon10:c.A1575G:p.Q525Q
16 85009970 2 ZDHHC7 A G exonic synonymous SNV ZDHHC7:NM_017740:exon8:c.T906C:p.G302G,ZDHHC7:NM_001145548:exon9:c.T1017C:p.G339G RS7195377 HDL cholesterol
16 85015541 2 ZDHHC7 G A exonic synonymous SNV ZDHHC7:NM_017740:exon4:c.C375T:p.P125P,ZDHHC7:NM_001145548:exon5:c.C486T:p.P162P RS16975086 Waist hip ratio:Obesity with early age of onset (age >2)
16 85694968 1 GSE1 C T exonic synonymous SNV GSE1:NM_001134473:exon8:c.C1545T:p.A515A,GSE1:NM_001278184:exon8:c.C1638T:p.A546A,GSE1:NM_014615:exon9:c.C1857T:p.A619A
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 86565882 2 MTHFSD G C exonic nonsynonymous SNV MTHFSD:NM_001159377:exon8:c.C887G:p.S296C,MTHFSD:NM_001159378:exon8:c.C887G:p.S296C,MTHFSD:NM_001159379:exon8:c.C884G:p.S295C,MTHFSD:NM_001159380:exon8:c.C827G:p.S276C,MTHFSD:NM_022764:exon8:c.C884G:p.S295C RS3751802 College completion
16 87445363 1 ZCCHC14 G A exonic synonymous SNV ZCCHC14:NM_015144:exon12:c.C2553T:p.H851H
16 87445839 1 ZCCHC14 C T exonic nonsynonymous SNV ZCCHC14:NM_015144:exon12:c.G2077A:p.V693M RS3748400 Acute insulin response to glucose:Insulin sensitivity index:Acute insulin response:Pulse pressure:Gene expression of MAP1LC3B in blood:Bipolar disorder:Years of education:College completion:Nicotine dependence (smoking):Transmission distortion:Maternal transmission distortion
16 87446053 1 ZCCHC14 G A exonic synonymous SNV ZCCHC14:NM_015144:exon12:c.C1863T:p.A621A RS2042395 Years of education:College completion
16 87782396 1 KLHDC4 C A exonic nonsynonymous SNV KLHDC4:NM_001184854:exon3:c.G218T:p.G73V,KLHDC4:NM_001184856:exon5:c.G389T:p.G130V,KLHDC4:NM_017566:exon5:c.G389T:p.G130V
16 87788836 1 KLHDC4 G A exonic synonymous SNV KLHDC4:NM_001184854:exon2:c.C162T:p.D54D,KLHDC4:NM_001184856:exon4:c.C333T:p.D111D,KLHDC4:NM_017566:exon4:c.C333T:p.D111D RS17699859 Autism without verbal ability:Birth weight
16 87788864 2 KLHDC4 G A exonic nonsynonymous SNV KLHDC4:NM_001184854:exon2:c.C134T:p.T45I,KLHDC4:NM_001184856:exon4:c.C305T:p.T102I,KLHDC4:NM_017566:exon4:c.C305T:p.T102I RS2303771 Gene expression of LOC100129637 [probe 229035_s_at] in lymphoblastoid cell lines:Serum creatinine:Lp-PLA2 mass:Lp-PLA2 activity:Gene expression of KLHDC4 in peripheral blood monocytes:College completion:Years of education
16 87795580 1 KLHDC4 G C exonic nonsynonymous SNV KLHDC4:NM_001184856:exon2:c.C166G:p.L56V,KLHDC4:NM_017566:exon2:c.C166G:p.L56V RS2303772 Barnes Akathisia Rating Scale:Lp-PLA2 mass:Diastolic blood pressure (DBP):Birth weight
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 88052161 1 BANP C A exonic synonymous SNV BANP:NM_001173540:exon6:c.C684A:p.L228L,BANP:NM_001173541:exon6:c.C666A:p.L222L,BANP:NM_017869:exon6:c.C666A:p.L222L,BANP:NM_079837:exon6:c.C666A:p.L222L,BANP:NM_001173539:exon7:c.C783A:p.L261L,BANP:NM_001173542:exon7:c.C783A:p.L261L,BANP:NM_001173543:exon7:c.C759A:p.L253L RS7499814 Gene expression change of CA5A (ENSG00000174990) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of CA5A (ENSG00000174990) in dendritic cells
16 88061150 1 BANP C T exonic synonymous SNV BANP:NM_001173540:exon7:c.C858T:p.I286I,BANP:NM_001173541:exon7:c.C840T:p.I280I,BANP:NM_017869:exon7:c.C840T:p.I280I,BANP:NM_079837:exon7:c.C840T:p.I280I,BANP:NM_001173539:exon8:c.C957T:p.I319I,BANP:NM_001173542:exon8:c.C957T:p.I319I,BANP:NM_001173543:exon8:c.C933T:p.I311I
16 88105725 1 BANP G A exonic synonymous SNV BANP:NM_001173541:exon11:c.G1236A:p.A412A,BANP:NM_017869:exon11:c.G1245A:p.A415A,BANP:NM_001173539:exon12:c.G1353A:p.A451A,BANP:NM_001173540:exon12:c.G1329A:p.A443A,BANP:NM_001173542:exon12:c.G1362A:p.A454A,BANP:NM_079837:exon12:c.G1311A:p.A437A,BANP:NM_001173543:exon13:c.G1395A:p.A465A RS8050209 Comorbid depressive syndrome and alcohol dependence
16 88601360 1 ZFPM1 C T exonic synonymous SNV ZFPM1:NM_153813:exon10:c.C2994T:p.S998S
16 88644005 2 ZC3H18 A G exonic synonymous SNV ZC3H18:NM_001294340:exon2:c.A474G:p.K158K,ZC3H18:NM_144604:exon2:c.A474G:p.K158K
16 88709828 2 CYBA A G exonic nonsynonymous SNV CYBA:NM_000101:exon6:c.T521C:p.V174A
16 88713236 2 CYBA A G exonic nonsynonymous SNV CYBA:NM_000101:exon4:c.T214C:p.Y72H RS4673 Abnormal Involuntary Movement Scale:Tardive dyskinesia:Serum creatinine:Autism with verbal ability:Height:Gene expression of CYBA in blood
16 88717386 2 CYBA T C exonic synonymous SNV CYBA:NM_000101:exon1:c.A36G:p.E12E
16 88779739 1 CTU2 A G exonic nonsynonymous SNV CTU2:NM_001318513:exon7:c.A496G:p.M166V,CTU2:NM_001012759:exon8:c.A757G:p.M253V,CTU2:NM_001012762:exon8:c.A757G:p.M253V,CTU2:NM_001318507:exon8:c.A970G:p.M324V
16 88781040 1 CTU2 A G exonic nonsynonymous SNV CTU2:NM_001318513:exon11:c.A986G:p.Q329R,CTU2:NM_001012759:exon12:c.A1247G:p.Q416R,CTU2:NM_001012762:exon12:c.A1247G:p.Q416R,CTU2:NM_001318507:exon12:c.A1460G:p.Q487R RS8059048 Premature ovarian failure:Gene expression of SNAI3 in CD4+ lymphocytes:Neuroblastoma (brain cancer):Microalbuminuria:Gene expression of RNF166 in blood:Gene expression of SNAI3 in blood:Gene expression of RNF166 (ENSG00000158717) in dendritic cells
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 88781614 1 CTU2 G C exonic nonsynonymous SNV CTU2:NM_001012762:exon14:c.G1444C:p.G482R
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 88783100 1 PIEZO1 T C exonic nonsynonymous SNV PIEZO1:NM_001142864:exon47:c.A6793G:p.I2265V RS1803382 Fasting blood glucose:Height:Gene expression of C16orf84///FAM38A in blood:Gene expression of SNAI3 in blood:Tetrology of fallot:Gene expression of APRT (ENSG00000198931) in dendritic cells treated with Mycobacterium tuberculosis
16 88783449 1 PIEZO1 C G exonic synonymous SNV PIEZO1:NM_001142864:exon45:c.G6642C:p.L2214L
16 88783521 2 PIEZO1 T C exonic synonymous SNV PIEZO1:NM_001142864:exon45:c.A6570G:p.P2190P
16 88787673 1 PIEZO1 G A exonic nonsynonymous SNV PIEZO1:NM_001142864:exon39:c.C5569T:p.P1857S
16 88787704 2 PIEZO1 G C exonic synonymous SNV PIEZO1:NM_001142864:exon39:c.C5538G:p.A1846A
16 88788362 1 PIEZO1 G A exonic nonsynonymous SNV PIEZO1:NM_001142864:exon37:c.C5068T:p.L1690F
16 88791458 1 PIEZO1 G A exonic nonsynonymous SNV PIEZO1:NM_001142864:exon30:c.C4193T:p.P1398L
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 88803982 1 PIEZO1 C G exonic nonsynonymous SNV PIEZO1:NM_001142864:exon10:c.G1180C:p.V394L RS6500493 Height:PROP taste detection threshold
16 88804734 2 PIEZO1 A G exonic nonsynonymous SNV PIEZO1:NM_001142864:exon7:c.T749C:p.V250A RS7184427 LDL cholesterol:HOMA-B:Fasting insulin:HOMA-IR:Triglycerides change with statins:Height
16 88808743 2 PIEZO1 A G exonic nonsynonymous SNV PIEZO1:NM_001142864:exon3:c.T248C:p.I83T RS6500495 Gene expression of SNAI3 in peripheral blood monocytes
16 88872145 2 CDT1 T C exonic nonsynonymous SNV CDT1:NM_030928:exon5:c.T700C:p.C234R
16 88872229 1 CDT1 A G exonic nonsynonymous SNV CDT1:NM_030928:exon5:c.A784G:p.T262A RS480727 Eye color:Total cholesterol:Gene expression of APRT in blood:Gene expression of TRAPPC2L in blood
16 88872511 2 CDT1 T C exonic synonymous SNV CDT1:NM_030928:exon6:c.T915C:p.H305H RS510862 Rheumatoid arthritis:2 hour glucose:Total cholesterol:LDL cholesterol:Age at death with kuru exposure:Salmonella-induced pyroptosis:Gene expression of CTU2 (ENSG00000174177) in dendritic cells treated with Mycobacterium tuberculosis
16 88874632 1 CDT1 C G exonic synonymous SNV CDT1:NM_030928:exon10:c.C1587G:p.L529L
16 88884466 1 GALNS C T exonic synonymous SNV GALNS:NM_001323543:exon12:c.G876A:p.E292E,GALNS:NM_000512:exon13:c.G1431A:p.E477E,GALNS:NM_001323544:exon14:c.G1449A:p.E483E
16 88902183 1 GALNS G A exonic synonymous SNV GALNS:NM_001323543:exon6:c.C153T:p.H51H,GALNS:NM_000512:exon7:c.C708T:p.H236H,GALNS:NM_001323544:exon8:c.C726T:p.H242H RS1064315 HDL cholesterol
16 89167094 2 ACSF3 T C exonic nonsynonymous SNV ACSF3:NM_001127214:exon2:c.T5C:p.L2P,ACSF3:NM_001243279:exon3:c.T5C:p.L2P,ACSF3:NM_174917:exon3:c.T5C:p.L2P RS7188200 Gene expression of LOC197322 in CHB-JPT lymphoblastoid cell lines:Gene expression of ACSF3 [probe 3673806] in brain cortex:Waist hip ratio:Gene expression of CBFA2T3///ENST00000378347 in blood:Infant head circumference:Advanced age-related macular degeneration (geographic atrophy)
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 89167395 2 ACSF3 C T exonic synonymous SNV ACSF3:NM_001127214:exon2:c.C306T:p.C102C,ACSF3:NM_001243279:exon3:c.C306T:p.C102C,ACSF3:NM_174917:exon3:c.C306T:p.C102C
16 89167404 2 ACSF3 T C exonic synonymous SNV ACSF3:NM_001127214:exon2:c.T315C:p.D105D,ACSF3:NM_001243279:exon3:c.T315C:p.D105D,ACSF3:NM_174917:exon3:c.T315C:p.D105D
16 89167443 2 ACSF3 T C exonic synonymous SNV ACSF3:NM_001127214:exon2:c.T354C:p.S118S,ACSF3:NM_001243279:exon3:c.T354C:p.S118S,ACSF3:NM_174917:exon3:c.T354C:p.S118S RS6500528 Gene expression of ACSF3 in liver
16 89167458 2 ACSF3 C A exonic synonymous SNV ACSF3:NM_001127214:exon2:c.C369A:p.V123V,ACSF3:NM_001243279:exon3:c.C369A:p.V123V,ACSF3:NM_174917:exon3:c.C369A:p.V123V
16 89262431 1 SLC22A31 G A exonic synonymous SNV SLC22A31:NM_001242757:exon8:c.C993T:p.A331A
16 89265095 1 SLC22A31 C T exonic nonsynonymous SNV SLC22A31:NM_001242757:exon4:c.G239A:p.G80E
16 89265101 1 SLC22A31 C A exonic nonsynonymous SNV SLC22A31:NM_001242757:exon4:c.G233T:p.G78V
16 89265466 1 SLC22A31 A G exonic synonymous SNV SLC22A31:NM_001242757:exon3:c.T93C:p.G31G
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 89346774 1 ANKRD11 G T exonic nonsynonymous SNV ANKRD11:NM_001256183:exon9:c.C6176A:p.P2059H,ANKRD11:NM_013275:exon9:c.C6176A:p.P2059H,ANKRD11:NM_001256182:exon10:c.C6176A:p.P2059H
16 89348038 1 ANKRD11 G C exonic nonsynonymous SNV ANKRD11:NM_001256183:exon9:c.C4912G:p.P1638A,ANKRD11:NM_013275:exon9:c.C4912G:p.P1638A,ANKRD11:NM_001256182:exon10:c.C4912G:p.P1638A
16 89350038 1 ANKRD11 G A exonic nonsynonymous SNV ANKRD11:NM_001256183:exon9:c.C2912T:p.A971V,ANKRD11:NM_013275:exon9:c.C2912T:p.A971V,ANKRD11:NM_001256182:exon10:c.C2912T:p.A971V RS2279348 Serum creatinine:Mitral annular calcium
16 89350178 1 ANKRD11 G A exonic synonymous SNV ANKRD11:NM_001256183:exon9:c.C2772T:p.T924T,ANKRD11:NM_013275:exon9:c.C2772T:p.T924T,ANKRD11:NM_001256182:exon10:c.C2772T:p.T924T RS2279349 Eye color
16 89704365 1 DPEP1 G C exonic nonsynonymous SNV DPEP1:NM_001128141:exon10:c.G1051C:p.E351Q,DPEP1:NM_004413:exon10:c.G1051C:p.E351Q RS1126464 Plasma homocysteine:Triglycerides
16 89764549 1 SPATA2L G A exonic synonymous SNV SPATA2L:NM_152339:exon3:c.C468T:p.F156F RS3751695 Hair color (red):Eye color:Hair color (black versus red):Hair color (red):Skin freckles:Hair color (red):Freckles+burns vs. no freckles+tans:Burns vs. tans:HDL cholesterol:Area adjusted bone mineral content:Height:Gene expression of SPATA2L (ENSG00000158792) in dendritic cells:Gene expression of CDK10 (ENSG00000185324) in dendritic cells:Gene expression change of C16orf7 (ENSG00000075399) in dendritic cells after treatment with Mycobacterium tuberculosis
16 89777761 1 VPS9D1 C T exonic synonymous SNV VPS9D1:NM_004913:exon9:c.G807A:p.V269V
16 89782989 2 VPS9D1 A G exonic synonymous SNV VPS9D1:NM_004913:exon4:c.T312C:p.I104I RS7206570 Urinary albumin-to-creatinine ratio:Systolic blood pressure (SBP):Comorbid depressive syndrome and alcohol dependence
16 89783187 2 VPS9D1 C T exonic synonymous SNV VPS9D1:NM_004913:exon3:c.G219A:p.K73K
16 89789898 1 ZNF276 T C exonic nonsynonymous SNV ZNF276:NM_001113525:exon4:c.T787C:p.W263R,ZNF276:NM_152287:exon4:c.T562C:p.W188R RS6500437 Gene expression of FANCA in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of FANCA [probe 203805_s_at] in lymphoblastoid cell lines:Hip bone mineral density (BMD):Spine bone mineral density (BMD):Eye color:Hair color (red):Differential exon level expression of ZNF276 [probe 3674360] in peripheral blood mononuclear cells:Fasting blood glucose:Hair color (red):Triglycerides:Height:Gene expression of C16orf7 in blood:Gene expression of CDK10///C16orf76 in blood:Gene expression of SPIRE2 in blood:Bipolar disorder:Age at death with kuru exposure:Gene expression of CDK10 (ENSG00000185324) in dendritic cells treated with Mycobacterium tuberculosis:Years of education:Parkinson's disease:Aortic valve calcium
16 89836323 1 FANCA C T exonic nonsynonymous SNV FANCA:NM_000135:exon26:c.G2426A:p.G809D,FANCA:NM_001286167:exon26:c.G2426A:p.G809D RS7195066 Gene expression of FANCA [probe 236976_at] in lymphoblastoid cell lines:Hair color (red):Spine bone mineral density (BMD):Eye color:Hair color (black versus red):Hair color (red):Tanning ability:Hair color:Freckles+burns vs. no freckles+tans:Burns vs. tans:Hair color (red):Skin freckles:Hair color (red):Triglycerides:Gene expression of SPIRE2 [probe ILMN_502] in osteoblasts treated with PGE2:Gene expression of SPIRE2 [probe ILMN_502] in osteoblasts treated with dexamethasone:Gene expression of TUBB3 in blood:Gene expression of CDK10///C16orf76 in blood:Gene expression of DBNDD1 in blood:Gene expression of SPIRE2 in blood
16 89849480 1 FANCA C T exonic nonsynonymous SNV FANCA:NM_000135:exon16:c.G1501A:p.G501S,FANCA:NM_001286167:exon16:c.G1501A:p.G501S RS2239359 Freckles+burns vs. no freckles+tans:Skin freckles:Alzheimer's disease:Fasting blood glucose:Methylation levels at chr16:88511968-88512018 [hg18 coord, probe cg14696348] in Temporal cortex:Methylation levels at chr16:88511968-88512018 [hg18 coord, probe cg14696348] in Cerebellum:Height:Gene expression of MC1R [transcript NM_002386, probe A_23_P329271] in liver:Gene expression of TCF25 in blood:Gene expression of SPG7 in blood:Gene expression of C16orf7 in blood:Gene expression of CDK10///C16orf76 in blood:Gene expression of TUBB3 in blood:Gene expression of RPL13 in blood:Gene expression of ENST00000360417 in blood:Gene expression of AC092143.9 in blood:Gene expression of DRD3 in blood:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Advanced age-related macular degeneration:Tetrology of fallot:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
16 89986154 1 MC1R G A exonic nonsynonymous SNV MC1R:NM_002386:exon1:c.G488A:p.R163Q RS885479 Tanning ability:Hair color (red):Rheumatoid arthritis:Information processing speed (Symbol search):Skin M (melanin index by reflectance spectroscopy):Transmission distortion
16 90037828 1 CENPBD1 G A exonic nonsynonymous SNV CENPBD1:NM_145039:exon1:c.C503T:p.T168I RS4785755 Hair color (red):Eye color:Tanning ability:Hair color (red):Hair color (black versus red):Freckles+burns vs. no freckles+tans:Hair color (red):Burns vs. tans:Skin freckles:Fasting blood glucose:HOMA-B:Hair color (red):Gene expression of DEF8 [transcript NM_207514, probe A_24_P49411] in liver:Gene expression of TUBB3 [transcript NM_006086, probe A_23_P77493] in liver:Gene expression of TUBB3 in blood:Gene expression of ENST00000360417 in blood:Gene expression of DBNDD1 in blood:Gene expression of TCF25 in blood:Gene expression of DRD3 in blood:Advanced age-related macular degeneration (geographic atrophy)
16 90097748 1 GAS8 C T exonic synonymous SNV GAS8:NM_001286209:exon3:c.C57T:p.R19R,GAS8:NM_001481:exon3:c.C132T:p.R44R RS2302513 Triglycerides:Advanced age-related macular degeneration (geographic atrophy)
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
16 118893054 2
17 648157 2 GEMIN4 G A exonic synonymous SNV GEMIN4:NM_015721:exon2:c.C3126T:p.I1042I RS1045481 LDL cholesterol change with statins:T-cell recognition in leukemia patients (minor histocompatibility antigens):Gene expression of FAM57A in normal prepouch ileum
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 649505 2 GEMIN4 T A exonic nonsynonymous SNV GEMIN4:NM_015721:exon2:c.A1778T:p.E593V
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 685752 2 MRM3 G A exonic nonsynonymous SNV MRM3:NM_018146:exon1:c.G134A:p.G45E RS2249542 Gene expression of FAM57A in normal prepouch ileum:Aortic valve calcium:Gene expression of VPS53 (ENSG00000141252) in dendritic cells
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 1373612 2 MYO1C C T exonic nonsynonymous SNV MYO1C:NM_001080779:exon24:c.G2383A:p.V795I,MYO1C:NM_001080950:exon24:c.G2326A:p.V776I,MYO1C:NM_033375:exon24:c.G2278A:p.V760I
17 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 1637302 2 WDR81 A G exonic synonymous SNV WDR81:NM_001163673:exon7:c.A1362G:p.L454L,WDR81:NM_001163809:exon7:c.A4971G:p.L1657L,WDR81:NM_001163811:exon7:c.A1290G:p.L430L,WDR81:NM_152348:exon8:c.A1818G:p.L606L RS3809872 Gene expression of RPA1 (ENSG00000132383) in dendritic cells treated with Mycobacterium tuberculosis:Refractive error
17 1639458 2 WDR81 A G exonic synonymous SNV WDR81:NM_001163673:exon9:c.A1842G:p.T614T,WDR81:NM_001163809:exon9:c.A5451G:p.T1817T,WDR81:NM_001163811:exon9:c.A1770G:p.T590T,WDR81:NM_152348:exon10:c.A2298G:p.T766T
17 1673276 2 SERPINF1 C T exonic nonsynonymous SNV SERPINF1:NM_001329903:exon3:c.C215T:p.T72M,SERPINF1:NM_002615:exon3:c.C215T:p.T72M RS1136287 Gene expression of SMYD4 in peripheral blood monocytes:Height:Gene expression of RPA1 in blood:Gene expression of SMYD4 in blood:Gene expression of WDR81 in blood:Gene expression of C17orf91 in blood:Coronary artery disease (CAD):Refractive error:Gene expression of SMYD4 (probeID ILMN_2086238) in cerebellum in Alzheimer's disease cases and controls:Gene expression of SMYD4 (probeID ILMN_2086238) in cerebellum in non-Alzheimer's disease samples:Gene expression of SMYD4 (ENSG00000186532) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of SMYD4 (probeID ILMN_2086238) in temporal cortex in Alzheimer's disease cases:Gene expression of SMYD4 (probeID ILMN_2086238) in cerebellum in Alzheimer's disease cases:Gene expression of SMYD4 (probeID ILMN_2086238) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of SMYD4 (probeID ILMN_2086238) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of SMYD4 (probeID ILMN_2086238) in temporal cortex in Alzheimer's disease cases and controls
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 1733399 2 RPA1 A G exonic synonymous SNV RPA1:NM_002945:exon1:c.A12G:p.Q4Q RS5030749 Gene expression of RPA1 (ENSG00000132383) in dendritic cells
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 3568012 2 TAX1BP3 A G exonic synonymous SNV TAX1BP3:NM_001204698:exon2:c.T120C:p.D40D,TAX1BP3:NM_014604:exon2:c.T120C:p.D40D
17 4088291 2 ANKFY1 C T exonic synonymous SNV ANKFY1:NM_001257999:exon12:c.G1647A:p.T549T,ANKFY1:NM_001330063:exon12:c.G1521A:p.T507T,ANKFY1:NM_016376:exon12:c.G1521A:p.T507T
17 4455500 2 MYBBP1A T C exonic synonymous SNV MYBBP1A:NM_001105538:exon7:c.A825G:p.A275A,MYBBP1A:NM_014520:exon7:c.A825G:p.A275A
17 4575283 2 PELP1 A G exonic synonymous SNV PELP1:NM_014389:exon16:c.T3153C:p.P1051P
17 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 4693170 2 GLTPD2 T C exonic nonsynonymous SNV GLTPD2:NM_001014985:exon4:c.T455C:p.V152A
17 4693342 2 GLTPD2 C A exonic nonsynonymous SNV GLTPD2:NM_001014985:exon4:c.C627A:p.D209E
17 4693508 2 GLTPD2 G C exonic nonsynonymous SNV GLTPD2:NM_001014985:exon4:c.G793C:p.V265L
17 4699552 2 PSMB6 G A exonic synonymous SNV PSMB6:NM_001270481:exon1:c.G63A:p.A21A,PSMB6:NM_002798:exon1:c.G63A:p.A21A RS3169950 Birth weight
17 4856580 2 ENO3 T C exonic nonsynonymous SNV ENO3:NM_001976:exon5:c.T254C:p.V85A,ENO3:NM_053013:exon5:c.T254C:p.V85A RS238239 Fasting insulin:HDL cholesterol change with statins:Lp-PLA2 activity:Gene expression of RNF167 in peripheral blood monocytes:Autism:Body mass index (BMI):Gene expression of RNF167///PFN1 in blood:Gene expression of ENO3 (probeID ILMN_2365383) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of ENO3 (probeID ILMN_1678904) in temporal cortex in Alzheimer's disease cases:Gene expression of ENO3 (probeID ILMN_1678904) in cerebellum in non-Alzheimer's disease samples:Gene expression of ENO3 (probeID ILMN_1678904) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of HS.202577 (probeID ILMN_1878029) in breast tumors:Gene expression of ENO3 (probeID ILMN_2365383) in cerebellum in Alzheimer's disease cases:Gene expression of ENO3 (probeID ILMN_2365383) in cerebellum in Alzheimer's disease cases and controls:Gene expression of COL16A1 (probeID ILMN_1684554) in breast tumors:Adiponectin levels:Gene expression of ENO3 (probeID ILMN_1678904) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of ENO3 (probeID ILMN_2365383) in cerebellum in non-Alzheimer's disease samples:Gene expression of ENO3 (probeID ILMN_1678904) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ZC3H12B (probeID ILMN_1814629) in breast tumors:Gene expression of ENO3 (probeID ILMN_1678904) in cerebellum in Alzheimer's disease cases
17 4875566 2 CAMTA2 T C exonic synonymous SNV CAMTA2:NM_001171166:exon15:c.A2775G:p.P925P,CAMTA2:NM_001171168:exon15:c.A2766G:p.P922P,CAMTA2:NM_001171167:exon16:c.A2838G:p.P946P,CAMTA2:NM_015099:exon16:c.A2769G:p.P923P RS238230 Gene expression of DKFZP566H073 in JPT lymphoblastoid cell lines:Gene expression of MINK1 [probe 214246_x_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Gene expression of MINK1 in Frontal cortex:Autism:LDL cholesterol:Total cholesterol:Body mass index (BMI):Gene expression of RNF167///PFN1 in blood:Gene expression of C17orf87 in blood:Gene expression of ENO3 (probeID ILMN_2365383) in cerebellum in Alzheimer's disease cases:Adiponectin levels:Gene expression of ENO3 (probeID ILMN_1678904) in cerebellum in Alzheimer's disease cases:Gene expression of ENO3 (probeID ILMN_2365383) in cerebellum in non-Alzheimer's disease samples:Gene expression of ENO3 (probeID ILMN_2365383) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ENO3 (probeID ILMN_1678904) in cerebellum in non-Alzheimer's disease samples:Gene expression of ENO3 (probeID ILMN_2365383) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of ENO3 (probeID ILMN_1678904) in cerebellum in Alzheimer's disease cases and controls:Tetrology of fallot:Gene expression of ENO3 (probeID ILMN_1678904) in cerebellum in Progressive Supranuclear Palsy cases
17 4883818 2 CAMTA2 C G exonic nonsynonymous SNV CAMTA2:NM_001171166:exon8:c.G805C:p.A269P,CAMTA2:NM_001171168:exon8:c.G796C:p.A266P,CAMTA2:NM_001171167:exon9:c.G868C:p.A290P,CAMTA2:NM_015099:exon9:c.G799C:p.A267P RS238234 Gene expression of DKFZP566H073 in JPT lymphoblastoid cell lines:Total cholesterol:Gene expression of RNF167 in Caudal pons:Gene expression of RNF167 in Cerebellum:Gene expression of RNF167 in Frontal cortex:Gene expression of RNF167 in Temporal cortex:Birth weight:Gene expression change of PFN1 (ENSG00000108518) in dendritic cells after treatment with Mycobacterium tuberculosis
17 4926882 2 KIF1C A G exonic synonymous SNV KIF1C:NM_006612:exon23:c.A2748G:p.P916P
17 6538355 2 KIAA0753 G A exonic synonymous SNV KIAA0753:NM_014804:exon2:c.C69T:p.S23S RS2301873 Parkinson's disease
17 6942108 2 SLC16A13 C T exonic synonymous SNV SLC16A13:NM_201566:exon3:c.C981T:p.S327S RS11078663 Total cholesterol:Gene expression of ASGR1 [transcript NM_001671, probe A_23_P118722] in liver:Number of iris nevi
17 6943266 2 SLC16A13 G A exonic synonymous SNV SLC16A13:NM_201566:exon4:c.G1266A:p.G422G RS4796576 Gene expression of SLC16A11 in CHB lymphoblastoid cell lines:Total cholesterol:Asthma:Gene expression of SLC16A13 [transcript NM_201566, probe A_23_P118741] in liver:Sporadic Creutzfeldt-Jakob disease:Gene expression of SLC16A13 (ENSG00000174327) in dendritic cells
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 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 10536018 2 MYH3 G A exonic synonymous SNV MYH3:NM_002470:exon34:c.C4731T:p.I1577I RS2285479 Fasting insulin:HOMA-B:HOMA-IR:Birth weight
17 10614442 2 ADPRM A G exonic nonsynonymous SNV ADPRM:NM_020233:exon4:c.A1010G:p.E337G RS406446 Gene expression of TMEM220 [probe 229693_at] in lymphoblastoid cell lines:Differential exon level expression of C17orf48 [probe 3710287] in brain cortex:Differential exon level expression of C17orf48 [probe 3710287] in peripheral blood mononuclear cells:Gene expression of C17orf48 [probe 3710277] in brain cortex:Differential exon level expression of C17orf48 [probe 3710284] in peripheral blood mononuclear cells:Gene expression of C17orf48 [probe 3710277] in peripheral blood mononuclear cells:2 hour glucose:Methylation levels at chr17:10542726-10542776 [hg18 coord, probe cg12478185] in Temporal cortex:Gene expression of SCO1 in blood:Gene expression of TMEM220 in blood:Gene expression of AC002347.1 in blood:Gene expression of MYH3 in blood:Gene expression of AC002347.1///TMEM220 in blood:Gene expression of C17orf48 [probeset 223401_at] in sputum:Gene expression of TMEM220 [probeset 229693_at] in sputum:Gene expression of TMEM220 in normal prepouch ileum:Gene expression of C17orf48 in normal prepouch ileum:Gene expression of SCO1 in normal prepouch ileum:Tetrology of fallot
17 12898361 1 ELAC2 G A exonic synonymous SNV ELAC2:NM_001165962:exon19:c.C1707T:p.C569C,ELAC2:NM_018127:exon20:c.C1827T:p.C609C,ELAC2:NM_173717:exon20:c.C1824T:p.C608C
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 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 18566487 2 ZNF286B G A exonic nonsynonymous SNV ZNF286B:NM_001145045:exon5:c.C332T:p.P111L
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 25628820 2 WSB1 T C exonic nonsynonymous SNV WSB1:NM_001348350:exon2:c.T47C:p.L16S,WSB1:NM_015626:exon2:c.T47C:p.L16S RS6561 Gene expression of probe 227501_at in lymphoblastoid cell lines:Spine bone mineral density (BMD):LDL cholesterol:HDL cholesterol:Total cholesterol:LDL cholesterol:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression of WSB1 in blood:Gene expression of WSB1 [probeset 201294_s_at] in sputum:Infant head circumference
17 26676135 2 POLDIP2 C T exonic unknown UNKNOWN RS13469 HDL cholesterol:Total cholesterol:Serum creatinine:Body mass index (BMI):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of TMEM199 in normal prepouch ileum:Years of education:Adiponectin levels:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Advanced age-related macular degeneration
17 26684394 2 POLDIP2 T G exonic unknown UNKNOWN
17 26684449 2 POLDIP2 G C exonic unknown UNKNOWN
17 26694861 2 VTN G A exonic nonsynonymous SNV VTN:NM_000638:exon7:c.C1199T:p.T400M RS704 HDL cholesterol:Total cholesterol:Cystatin C in serum:Body mass index (BMI):Years of education:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
17 28712099 1 CPD G A exonic nonsynonymous SNV CPD:NM_001199775:exon2:c.G98A:p.S33N,CPD:NM_001304:exon2:c.G839A:p.S280N
17 28712100 1 CPD C G exonic nonsynonymous SNV CPD:NM_001199775:exon2:c.C99G:p.S33R,CPD:NM_001304:exon2:c.C840G:p.S280R
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 30533970 2 RHOT1 A G exonic synonymous SNV RHOT1:NM_001033566:exon17:c.A1458G:p.E486E,RHOT1:NM_001033568:exon17:c.A1458G:p.E486E,RHOT1:NM_001288754:exon17:c.A1458G:p.E486E,RHOT1:NM_001288755:exon17:c.A1395G:p.E465E,RHOT1:NM_018307:exon17:c.A1458G:p.E486E,RHOT1:NM_001033567:exon18:c.A1077G:p.E359E,RHOT1:NM_001288758:exon18:c.A1077G:p.E359E RS16967164 HOMA-IR:Total cholesterol:LDL cholesterol change with statins:Methylation levels at chr19:9799988-9800038 [hg18 coord, probe cg17704839] in Frontal cortex:Methylation levels at chr19:9799988-9800038 [hg18 coord, probe cg17704839] in Caudal pons:Methylation levels at chr19:9799988-9800038 [hg18 coord, probe cg17704839] in Temporal cortex:Total cholesterol:LDL cholesterol:Height:Gene expression change of RHOT1 (ENSG00000126858) in dendritic cells after treatment with Mycobacterium tuberculosis
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 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 34328461 2 CCL15 A G exonic nonsynonymous SNV CCL15:NM_032965:exon1:c.T71C:p.I24T RS854625 Fasting insulin:Urinary albumin-to-creatinine ratio
17 35478362 2 ACACA T C exonic synonymous SNV ACACA:NM_198837:exon48:c.A5904G:p.T1968T,ACACA:NM_198838:exon49:c.A5844G:p.T1948T,ACACA:NM_198834:exon50:c.A6189G:p.T2063T,ACACA:NM_198836:exon50:c.A6078G:p.T2026T,ACACA:NM_198839:exon54:c.A6078G:p.T2026T
17 36861983 2 MLLT6 T C exonic nonsynonymous SNV MLLT6:NM_005937:exon1:c.T98C:p.V33A
17 37070658 2 LASP1 A G exonic synonymous SNV LASP1:NM_001271608:exon4:c.A270G:p.S90S,LASP1:NM_006148:exon5:c.A438G:p.S146S RS525989 LDL cholesterol:Total cholesterol:Serum creatinine:Height:Gene expression of LASP1 [transcript NM_006148, probe A_23_P89187] in liver:Adiponectin levels
17 37814080 2 STARD3 G A exonic nonsynonymous SNV STARD3:NM_001165937:exon4:c.G350A:p.R117Q,STARD3:NM_001165938:exon4:c.G350A:p.R117Q,STARD3:NM_006804:exon4:c.G350A:p.R117Q RS1877031 Irritible bowel syndrome:HDL cholesterol:Asthma:Serum creatinine:Rheumatoid arthritis:Total cholesterol:HDL cholesterol:Asthma, childhood, later and unknown onset, and severe asthma:Asthma, childhood, later and unknown onset, and severe and industrial asthma:Severe asthma:Asthma, childhood onset:Asthma, childhood and later onset:Height:Neuroblastoma (brain cancer):Gene expression of STARD3 [probe ILMN_10258] in osteoblasts treated with pge-2:Urinary albumin-to-creatinine ratio:Microalbuminuria:Pediatric asthma:Gene expression of CRKRS in blood:Gene expression of PNMT///PERLD1 in blood:Gene expression of PPP1R1B///STARD3 in blood:Asthma:Gene expression of PERLD1 in liver:Myasthenia gravis:Gene expression of PGAP3 in normal prepouch ileum:Gene expression of GSDMB (probeID ILMN_1666206) in whole blood:Years of education:Advanced age-related macular degeneration (geographic atrophy):Gene expression of GSDMB in normal prepouch ileum
17 37884037 2 ERBB2 C G exonic nonsynonymous SNV ERBB2:NM_004448:exon27:c.C3508G:p.P1170A,ERBB2:NM_001005862:exon30:c.C3418G:p.P1140A,ERBB2:NM_001289936:exon31:c.C3463G:p.P1155A RS1058808 HDL cholesterol:Serum creatinine:Rheumatoid arthritis:Total cholesterol:HDL cholesterol:Waist hip ratio:Urinary albumin-to-creatinine ratio:Asthma:Systolic blood pressure (SBP):Asthma:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration (geographic atrophy)
17 37898543 2 GRB7 T C exonic nonsynonymous SNV GRB7:NM_001242442:exon2:c.T58C:p.C20R
17 38137364 2 PSMD3 G A exonic synonymous SNV PSMD3:NM_002809:exon1:c.G141A:p.S47S
17 38179492 2 MED24 A G exonic synonymous SNV MED24:NM_001079518:exon19:c.T2103C:p.I701I,MED24:NM_001267797:exon19:c.T2103C:p.I701I,MED24:NM_014815:exon20:c.T2142C:p.I714I,MED24:NM_001330211:exon21:c.T2199C:p.I733I RS2302777 HDL cholesterol:Panic disorder:Major depressive disorder:Gene expression of PSMD3 in peripheral blood monocytes:HDL cholesterol:Total cholesterol:LDL cholesterol:Comorbid depressive syndrome and alcohol dependence:Bipolar disorder:Multiple myeloma:Gene expression of MED24 (probeID ILMN_2388272) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MED24 (probeID ILMN_2388272) in temporal cortex in Alzheimer's disease cases and controls:Paternal transmission distortion
17 38990834 2 TMEM99 G C exonic synonymous SNV TMEM99:NM_001195386:exon3:c.G66C:p.V22V,TMEM99:NM_001195387:exon3:c.G66C:p.V22V,TMEM99:NM_145274:exon3:c.G66C:p.V22V RS2240078 HOMA-B:Microalbuminuria
17 38991032 2 TMEM99 T A exonic synonymous SNV TMEM99:NM_001195386:exon3:c.T264A:p.G88G,TMEM99:NM_001195387:exon3:c.T264A:p.G88G,TMEM99:NM_145274:exon3:c.T264A:p.G88G RS6694 LDL cholesterol change with statins:Total cholesterol change with statins
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 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 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 40125864 2 CNP G A exonic synonymous SNV CNP:NM_001330216:exon4:c.G1128A:p.G376G,CNP:NM_033133:exon4:c.G1188A:p.G396G RS2070106 Stabilized warfarin dose:LDL cholesterol:Gene expression of KAT2A [transcript NM_021078, probe A_23_P66608] in liver:Gene expression of JUP in blood:Gene expression of NT5C3L in blood:Gene expression of CNP///DNAJC7 in blood:Gene expression of AC130686.10 in blood:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
17 40689455 2 NAGLU T C exonic synonymous SNV NAGLU:NM_000263:exon2:c.T423C:p.S141S RS659497 Diastolic blood pressure (DBP)
17 40696233 2 NAGLU C G exonic nonsynonymous SNV NAGLU:NM_000263:exon6:c.C2209G:p.R737G RS86312 Abnormal Involuntary Movement Scale:Barnes Akathisia Rating Scale:HOMA-IR:Fasting insulin:Chronic kidney disease:Triglycerides:HDL cholesterol:Acute lung injury following major trauma:Birth weight
17 40822308 2 PLEKHH3 C A exonic nonsynonymous SNV PLEKHH3:NM_024927:exon11:c.G1641T:p.Q547H
17 41116234 2 AARSD1;PTGES3L-AARSD1 G A exonic synonymous SNV AARSD1:NM_001261434:exon2:c.C60T:p.S20S,PTGES3L-AARSD1:NM_001136042:exon7:c.C582T:p.S194S,PTGES3L-AARSD1:NM_025267:exon7:c.C399T:p.S133S
17 41133071 2 RUNDC1 T C exonic nonsynonymous SNV RUNDC1:NM_001321381:exon1:c.T478C:p.W160R,RUNDC1:NM_173079:exon1:c.T478C:p.W160R
17 41165878 2 IFI35 C T exonic synonymous SNV IFI35:NM_001330230:exon6:c.C648T:p.N216N,IFI35:NM_005533:exon6:c.C654T:p.N218N
17 41174025 2 VAT1 A C exonic synonymous SNV VAT1:NM_006373:exon1:c.T315G:p.P105P RS2070835 PROP taste detection threshold
17 41223094 2 BRCA1 T C exonic nonsynonymous SNV BRCA1:NM_007297:exon14:c.A4696G:p.S1566G,BRCA1:NM_007298:exon14:c.A1525G:p.S509G,BRCA1:NM_007294:exon15:c.A4837G:p.S1613G,BRCA1:NM_007299:exon15:c.A1525G:p.S509G,BRCA1:NM_007300:exon16:c.A4900G:p.S1634G RS1799966 Gene expression of MGC20235 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of BRCA1 in CHB-JPT lymphoblastoid cell lines:Gene expression of probe 1556545_at in lymphoblastoid cell lines:Hip bone mineral density (BMD):Spine bone mineral density (BMD):Stabilized warfarin dose:Differential exon level expression of NBR2 [probe 3722404] in brain cortex:Differential exon level expression of NBR2 [probe 3722401] in brain cortex:Differential exon level expression of NBR2 [probe 3722406] in brain cortex:Gene expression of NBR2 [probe 3722384] in peripheral blood mononuclear cells:Gene expression of NBR2 [probe 3722384] in brain cortex:Chronic kidney disease:Serum creatinine:Triglycerides:Depression scale of the Revised NEO Personality Inventory:Gene expression of BRCA1 in CD4+ lymphocytes:Neuroblastoma (brain cancer):Gene expression of BRCA1 in blood:Gene expression of IFI35///VAT1 in blood:Gene expression of BRCA1 (probeID ILMN_1738027) in temporal cortex in Alzheimer's disease cases:Gene expression of BRCA1 (probeID ILMN_2311089) in cerebellum in Alzheimer's disease cases and controls:Adiponectin levels:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in non-Alzheimer's disease samples:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in Alzheimer's disease cases:Gene expression of BRCA1 (probeID ILMN_1738027) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in Alzheimer's disease cases and controls:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in Progressive Supranuclear Palsy cases:DNA repair capacity in cultured peripheral lymphocytes (BPDE-damage host-cell reactivation testing) in lung cancer cases and controls:Gene expression of BRCA1 (probeID ILMN_2311089) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of BRCA1 (probeID ILMN_1738027) in temporal cortex in Alzheimer's disease cases and controls
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 41234470 2 BRCA1 A G exonic synonymous SNV BRCA1:NM_007297:exon11:c.T4167C:p.S1389S,BRCA1:NM_007298:exon11:c.T999C:p.S333S,BRCA1:NM_007294:exon12:c.T4308C:p.S1436S,BRCA1:NM_007299:exon12:c.T999C:p.S333S,BRCA1:NM_007300:exon12:c.T4308C:p.S1436S RS1060915 Gene expression of MGC20235 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of BRCA1 in CHB-JPT lymphoblastoid cell lines:Gene expression of probe 1556545_at in lymphoblastoid cell lines:Spine bone mineral density (BMD):Hip bone mineral density (BMD):Stabilized warfarin dose:Differential exon level expression of NBR2 [probe 3722401] in brain cortex:Differential exon level expression of NBR2 [probe 3722406] in brain cortex:Gene expression of NBR2 [probe 3722384] in peripheral blood mononuclear cells:Differential exon level expression of NBR2 [probe 3722404] in brain cortex:Gene expression of NBR2 [probe 3722384] in brain cortex:Chronic kidney disease:Serum creatinine:Triglycerides:Depression scale of the Revised NEO Personality Inventory:Gene expression of BRCA1 in CD4+ lymphocytes:Neuroblastoma (brain cancer):Gene expression of IFI35///VAT1 in blood:Gene expression of BRCA1 in blood:Gene expression of NBR2 [probeset 1553992_s_at] in sputum:PROP taste detection threshold:Gene expression of NBR2 in normal prepouch ileum:Gene expression of BRCA1 (probeID ILMN_2311089) in cerebellum in Alzheimer's disease cases and controls:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in Alzheimer's disease cases:Gene expression of BRCA1 (probeID ILMN_1738027) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in Alzheimer's disease cases and controls:Gene expression of BRCA1 (probeID ILMN_1738027) in temporal cortex in Progressive Supranuclear Palsy cases:Adiponectin levels:Gene expression of BRCA1 (probeID ILMN_1738027) in temporal cortex in Alzheimer's disease cases:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in non-Alzheimer's disease samples:Gene expression of BRCA1 (probeID ILMN_2311089) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in Progressive Supranuclear Palsy cases:Refractive error
17 41244435 2 BRCA1 T C exonic nonsynonymous SNV BRCA1:NM_007297:exon9:c.A2972G:p.E991G,BRCA1:NM_007294:exon10:c.A3113G:p.E1038G,BRCA1:NM_007300:exon10:c.A3113G:p.E1038G RS16941 Gene expression of MGC20235 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of BRCA1 in CHB-JPT lymphoblastoid cell lines:Gene expression of probe 1556545_at in lymphoblastoid cell lines:Barnes Akathisia Rating Scale:Chronic kidney disease:Serum creatinine:Triglycerides:Depression scale of the Revised NEO Personality Inventory:PROP taste detection threshold:Gene expression of BRCA1 (probeID ILMN_2311089) in cerebellum in Alzheimer's disease cases and controls:Gene expression of BRCA1 (probeID ILMN_1738027) in temporal cortex in Alzheimer's disease cases and controls:Adiponectin levels:Refractive error:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in Alzheimer's disease cases and controls:Gene expression of NBR2 in normal prepouch ileum:Gene expression of BRCA1 (probeID ILMN_2311089) in temporal cortex in Alzheimer's disease cases and controls
17 41244936 2 BRCA1 G A exonic nonsynonymous SNV BRCA1:NM_007297:exon9:c.C2471T:p.P824L,BRCA1:NM_007294:exon10:c.C2612T:p.P871L,BRCA1:NM_007300:exon10:c.C2612T:p.P871L RS799917 Gene expression of NBR2 [probe 1553992_s_at] in lymphoblastoid cell lines:Gene expression of probe 1556545_at in lymphoblastoid cell lines:Spine bone mineral density (BMD):Hip bone mineral density (BMD):Stabilized warfarin dose:Differential exon level expression of NBR2 [probe 3722401] in brain cortex:Differential exon level expression of NBR2 [probe 3722406] in brain cortex:Gene expression of NBR2 [probe 3722384] in peripheral blood mononuclear cells:Gene expression of NBR2 [probe 3722384] in brain cortex:Differential exon level expression of NBR2 [probe 3722404] in brain cortex:Chronic kidney disease:Serum creatinine:Depression scale of the Revised NEO Personality Inventory:Gene expression of BRCA1 in CD4+ lymphocytes:Gene expression of BRCA1 in blood:Gene expression of IFI35///VAT1 in blood:Gene expression of NBR2 [probeset 1553992_s_at] in sputum:PROP taste detection threshold:Gene expression of NBR2 in normal prepouch ileum:Gene expression of BRCA1 (probeID ILMN_2311089) in cerebellum in Alzheimer's disease cases and controls:Gene expression of BRCA1 (probeID ILMN_1738027) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of BRCA1 (probeID ILMN_2311089) in temporal cortex in Alzheimer's disease cases and controls:Adiponectin levels:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in Alzheimer's disease cases and controls
17 41245237 2 BRCA1 A G exonic synonymous SNV BRCA1:NM_007297:exon9:c.T2170C:p.L724L,BRCA1:NM_007294:exon10:c.T2311C:p.L771L,BRCA1:NM_007300:exon10:c.T2311C:p.L771L RS16940 Gene expression of MGC20235 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of probe 1556545_at in lymphoblastoid cell lines:Hip bone mineral density (BMD):Spine bone mineral density (BMD):Stabilized warfarin dose:Differential exon level expression of NBR2 [probe 3722401] in brain cortex:Differential exon level expression of NBR2 [probe 3722406] in brain cortex:Gene expression of NBR2 [probe 3722384] in peripheral blood mononuclear cells:Differential exon level expression of NBR2 [probe 3722404] in brain cortex:Gene expression of NBR2 [probe 3722384] in brain cortex:Chronic kidney disease:Serum creatinine:Triglycerides:Depression scale of the Revised NEO Personality Inventory:Gene expression of BRCA1 in CD4+ lymphocytes:Body mass index (BMI):Neuroblastoma (brain cancer):Gene expression of IFI35///VAT1 in blood:Gene expression of BRCA1 in blood:Gene expression of NBR2 [probeset 1553992_s_at] in sputum:PROP taste detection threshold:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in non-Alzheimer's disease samples:Gene expression of BRCA1 (probeID ILMN_1738027) in temporal cortex in Alzheimer's disease cases:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in Alzheimer's disease cases and controls:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of BRCA1 (probeID ILMN_1738027) in temporal cortex in Progressive Supranuclear Palsy cases:Refractive error:Gene expression of BRCA1 (probeID ILMN_2311089) in cerebellum in Alzheimer's disease cases and controls:Adiponectin levels:Gene expression of BRCA1 (probeID ILMN_2311089) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of NBR2 in normal prepouch ileum:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in Alzheimer's disease cases:Gene expression of BRCA1 (probeID ILMN_1738027) in temporal cortex in Alzheimer's disease cases and controls
17 41245466 2 BRCA1 G A exonic synonymous SNV BRCA1:NM_007297:exon9:c.C1941T:p.S647S,BRCA1:NM_007294:exon10:c.C2082T:p.S694S,BRCA1:NM_007300:exon10:c.C2082T:p.S694S RS1799949 Gene expression of MGC20235 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of BRCA1 in CHB-JPT lymphoblastoid cell lines:Gene expression of probe 1556545_at in lymphoblastoid cell lines:Stabilized warfarin dose:Gene expression of NBR2 [probe 3722384] in brain cortex:Differential exon level expression of NBR2 [probe 3722404] in brain cortex:Chronic kidney disease:Serum creatinine:Triglycerides:Depression scale of the Revised NEO Personality Inventory:Gene expression of BRCA1 (probeID ILMN_1738027) in cerebellum in Alzheimer's disease cases and controls:Gene expression of BRCA1 (probeID ILMN_1738027) in temporal cortex in Alzheimer's disease cases and controls:Adiponectin levels:Gene expression of BRCA1 (probeID ILMN_2311089) in temporal cortex in Alzheimer's disease cases and controls:DNA repair capacity in cultured peripheral lymphocytes (BPDE-damage host-cell reactivation testing) in lung cancer cases and controls:Gene expression of NBR2 in normal prepouch ileum:Gene expression of BRCA1 (probeID ILMN_2311089) in cerebellum in Alzheimer's disease cases and controls
17 41361960 2 NBR1 A G exonic nonsynonymous SNV NBR1:NM_005899:exon21:c.A2768G:p.H923R,NBR1:NM_031862:exon21:c.A2768G:p.H923R
17 42164885 2 HDAC5 G C exonic nonsynonymous SNV HDAC5:NM_001015053:exon13:c.C1782G:p.D594E,HDAC5:NM_005474:exon13:c.C1779G:p.D593E RS228757 Autism with verbal ability:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Gene expression of TMUB2 (probeID ILMN_2311779) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TMUB2 (probeID ILMN_2311779) in cerebellum in non-Alzheimer's disease samples:Gene expression of C17orf65 in normal prepouch ileum:Gene expression of TMUB2 (probeID ILMN_2311779) in cerebellum in Alzheimer's disease cases:Gene expression of TMUB2 (probeID ILMN_2311779) in temporal cortex in non-Alzheimer's disease samples:Parkinson's disease:Coronary artery disease (CAD):Gene expression of TMUB2 (probeID ILMN_2311779) in temporal cortex in Alzheimer's disease cases:Gene expression of TMUB2 (probeID ILMN_2311779) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ASB16 (probeID ILMN_1810881) in cerebellum in Alzheimer's disease cases and controls
17 43175906 2 NMT1 C T exonic synonymous SNV NMT1:NM_021079:exon7:c.C870T:p.P290P RS2239922 Bipolar disorder, gender differentiated:Gene expression of probe 214188_at in lymphoblastoid cell lines:2 hour glucose:Gene expression of LRRC37A4 in peripheral blood monocytes:Triglycerides:HDL cholesterol:Waist hip ratio:Birth weight
17 43216472 2 ACBD4 A G exonic nonsynonymous SNV ACBD4:NM_024722:exon8:c.A734G:p.Q245R,ACBD4:NM_001135705:exon9:c.A734G:p.Q245R,ACBD4:NM_001135706:exon9:c.A772G:p.R258G,ACBD4:NM_001135707:exon9:c.A724G:p.R242G,ACBD4:NM_001321352:exon11:c.A772G:p.R258G,ACBD4:NM_001321353:exon11:c.A772G:p.R258G RS16939879 2 hour glucose:LDL cholesterol change with statins:Triglycerides:Waist hip ratio:Birth weight:Coronary artery disease (CAD)
17 43545753 1 PLEKHM1 C T exonic nonsynonymous SNV PLEKHM1:NM_014798:exon5:c.G1130A:p.R377H
17 43555372 1 PLEKHM1 C T exonic nonsynonymous SNV PLEKHM1:NM_014798:exon3:c.G190A:p.A64T
17 43555449 1 PLEKHM1 G A exonic nonsynonymous SNV PLEKHM1:NM_014798:exon3:c.C113T:p.T38M
17 44144993 2 KANSL1 C G exonic nonsynonymous SNV KANSL1:NM_001193466:exon5:c.G1574C:p.R525P,KANSL1:NM_015443:exon5:c.G1574C:p.R525P,KANSL1:NM_001193465:exon6:c.G1574C:p.R525P
17 44626660 2 LRRC37A2 C G exonic nonsynonymous SNV LRRC37A2:NM_001006607:exon9:c.C4155G:p.N1385K
17 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 45890707 2 OSBPL7 C T exonic synonymous SNV OSBPL7:NM_145798:exon16:c.G1662A:p.K554K RS2301690 Triglycerides:Serum creatinine:Waist hip ratio:Gene expression of MRPL10 in blood:Diastolic blood pressure (DBP):Adiponectin levels
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 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 48940422 2 TOB1 T C exonic synonymous SNV TOB1:NM_001243885:exon2:c.A540G:p.K180K,TOB1:NM_005749:exon2:c.A957G:p.K319K,TOB1:NM_001243877:exon3:c.A957G:p.K319K RS4626 Gene expression of TOB1 [probe 228834_at] in lymphoblastoid cell lines:Lp-PLA2 mass:Gene expression of FIS in peripheral blood monocytes
17 53851228 2 PCTP C T exonic synonymous SNV PCTP:NM_001102402:exon4:c.C267T:p.I89I,PCTP:NM_001330377:exon4:c.C483T:p.I161I,PCTP:NM_001330378:exon4:c.C483T:p.I161I,PCTP:NM_021213:exon4:c.C483T:p.I161I RS2960062 Neuroticism:Simpson-Angus Scale:Fasting blood glucose:HOMA-IR:Serum creatinine:Waist hip ratio:Microalbuminuria:Obesity with early age of onset (age >2)
17 55027850 2 COIL T C exonic synonymous SNV COIL:NM_004645:exon2:c.A753G:p.E251E
17 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 55183716 2 AKAP1 T C exonic synonymous SNV AKAP1:NM_003488:exon2:c.T891C:p.D297D,AKAP1:NM_001242902:exon3:c.T891C:p.D297D,AKAP1:NM_001242903:exon3:c.T891C:p.D297D
17 56435885 2 RNF43 G T exonic nonsynonymous SNV RNF43:NM_001305545:exon8:c.C871A:p.L291M,RNF43:NM_001305544:exon9:c.C1252A:p.L418M,RNF43:NM_017763:exon9:c.C1252A:p.L418M RS2526374 Differential exon level expression of SUPT4H1 [probe 3764386] in brain cortex:Serum creatinine:Chronic kidney disease:Triglycerides:Height:Late onset Alzheimer's disease
17 56492800 2 RNF43 T C exonic nonsynonymous SNV RNF43:NM_001305544:exon2:c.A139G:p.I47V,RNF43:NM_017763:exon2:c.A139G:p.I47V RS3744093 Gene expression of C17orf71 in liver:Differential exon level expression of SUPT4H1 [probe 3764386] in peripheral blood mononuclear cells:Differential exon level expression of MTMR4 [probe 3764493] in brain cortex:Differential exon level expression of SUPT4H1 [probe 3764386] in brain cortex:Differential exon level expression of MTMR4 [probe 3764493] in peripheral blood mononuclear cells:Barnes Akathisia Rating Scale:Serum creatinine:Chronic kidney disease:Autism with verbal ability:Late onset Alzheimer's disease:Gene expression of [probe 6180082 centered at chr17:53974206] in blood:Childhood dental caries:Years of education:College completion:Gene expression of TRIM37 in normal prepouch ileum:Docetaxel response in lymphoblastoid cell lines
17 56584205 2 MTMR4 A C exonic nonsynonymous SNV MTMR4:NM_004687:exon10:c.T890G:p.V297G RS2302189 Differential exon level expression of MTMR4 [probe 3764493] in peripheral blood mononuclear cells:Differential exon level expression of MTMR4 [probe 3764493] in brain cortex:Serum creatinine:Late onset Alzheimer's disease:Gene expression of RAD51C in blood:Childhood dental caries:Gene expression of SEPT4 (probeID ILMN_2251114) in temporal cortex in Alzheimer's disease cases and controls:College completion:Gene expression of SEPT4 (probeID ILMN_2251114) in temporal cortex in Alzheimer's disease cases:Gene expression of SEPT4 (probeID ILMN_2251114) in temporal cortex in non-Alzheimer's disease samples:Gene expression of SEPT4 (probeID ILMN_2251114) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of SEPT4 (probeID ILMN_2251114) in cerebellum in non-Alzheimer's disease samples:Years of education:Gene expression of SEPT4 (probeID ILMN_2251114) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of SEPT4 (probeID ILMN_2251114) in cerebellum in Alzheimer's disease cases and controls:Gene expression of TRIM37 in normal prepouch ileum:Gene expression of SEPT4 (probeID ILMN_2251114) in cerebellum in Alzheimer's disease cases
17 56585872 2 MTMR4 G C exonic nonsynonymous SNV MTMR4:NM_004687:exon7:c.C508G:p.L170V RS3744108 Barnes Akathisia Rating Scale:Serum creatinine:Gene expression of SEPT4 (probeID ILMN_2251114) in cerebellum in Alzheimer's disease cases and controls:Docetaxel response in lymphoblastoid cell lines:College completion:Gene expression of TRIM37 in normal prepouch ileum:Years of education:Gene expression of SEPT4 (probeID ILMN_2251114) in temporal cortex in Alzheimer's disease cases and controls
17 59760996 2 BRIP1 A G exonic synonymous SNV BRIP1:NM_032043:exon20:c.T3411C:p.Y1137Y RS4986763 Cystatin C in serum:Height:Bipolar disorder
17 59763465 2 BRIP1 T C exonic synonymous SNV BRIP1:NM_032043:exon19:c.A2637G:p.E879E RS4986765 Height:Neuroblastoma (brain cancer):Bipolar disorder
17 59955426 2 INTS2 T G exonic nonsynonymous SNV INTS2:NM_001330417:exon18:c.A2278C:p.N760H,INTS2:NM_001351695:exon18:c.A2278C:p.N760H,INTS2:NM_020748:exon18:c.A2302C:p.N768H
17 60043884 2 MED13 G A exonic synonymous SNV MED13:NM_005121:exon19:c.C4320T:p.D1440D
17 60491144 2 EFCAB3 T C exonic nonsynonymous SNV EFCAB3:NM_173503:exon9:c.T919C:p.F307L,EFCAB3:NM_001144933:exon11:c.T1075C:p.F359L
17 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 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 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 62141455 2 ERN1 A G exonic synonymous SNV ERN1:NM_001433:exon10:c.T978C:p.I326I
17 63533789 2 AXIN2 T C exonic synonymous SNV AXIN2:NM_004655:exon6:c.A1365G:p.P455P
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 65739627 2 NOL11 A G exonic synonymous SNV NOL11:NM_001303272:exon16:c.A1422G:p.A474A,NOL11:NM_015462:exon17:c.A1968G:p.A656A
17 65822607 2
17 65989048 2 C17orf58 T C exonic nonsynonymous SNV C17orf58:NM_181656:exon2:c.A215G:p.E72G
17 66246416 2 AMZ2 A G exonic nonsynonymous SNV AMZ2:NM_001033574:exon2:c.A88G:p.N30D,AMZ2:NM_001346471:exon2:c.A88G:p.N30D,AMZ2:NM_001346480:exon2:c.A88G:p.N30D,AMZ2:NM_016627:exon2:c.A88G:p.N30D,AMZ2:NM_001033569:exon3:c.A88G:p.N30D,AMZ2:NM_001033570:exon3:c.A88G:p.N30D,AMZ2:NM_001033571:exon3:c.A88G:p.N30D,AMZ2:NM_001033572:exon3:c.A88G:p.N30D,AMZ2:NM_001289054:exon3:c.A88G:p.N30D,AMZ2:NM_001289056:exon3:c.A88G:p.N30D,AMZ2:NM_001346472:exon3:c.A88G:p.N30D,AMZ2:NM_001346473:exon3:c.A88G:p.N30D,AMZ2:NM_001346474:exon3:c.A88G:p.N30D,AMZ2:NM_001346475:exon3:c.A88G:p.N30D,AMZ2:NM_001346476:exon3:c.A88G:p.N30D,AMZ2:NM_001346477:exon3:c.A88G:p.N30D,AMZ2:NM_001346478:exon3:c.A88G:p.N30D,AMZ2:NM_001346479:exon3:c.A88G:p.N30D RS3213690 Differential exon level expression of AMZ2 [probe 3732766] in peripheral blood mononuclear cells:Fasting insulin:HDL cholesterol:Total cholesterol:Serum creatinine:Systolic blood pressure (SBP):Cognitive response of healthy volunteers to topiramate treatment as measure by the Delayed Story Recall cognitive test:Gene expression change of SLC16A6 (ENSG00000108932) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of AMZ2 (ENSG00000196704) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of AMZ2 in normal prepouch ileum
17 66253095 2 AMZ2 T A exonic synonymous SNV AMZ2:NM_001033574:exon6:c.T894A:p.A298A,AMZ2:NM_001346480:exon6:c.T894A:p.A298A,AMZ2:NM_001346471:exon7:c.T1068A:p.A356A,AMZ2:NM_001346481:exon7:c.T966A:p.A322A,AMZ2:NM_001346484:exon7:c.T966A:p.A322A,AMZ2:NM_001346485:exon7:c.T900A:p.A300A,AMZ2:NM_016627:exon7:c.T1068A:p.A356A,AMZ2:NM_001033569:exon8:c.T1068A:p.A356A,AMZ2:NM_001033570:exon8:c.T1068A:p.A356A,AMZ2:NM_001033571:exon8:c.T1068A:p.A356A,AMZ2:NM_001033572:exon8:c.T1068A:p.A356A,AMZ2:NM_001289054:exon8:c.T1068A:p.A356A,AMZ2:NM_001289056:exon8:c.T1068A:p.A356A,AMZ2:NM_001346472:exon8:c.T1068A:p.A356A,AMZ2:NM_001346473:exon8:c.T1068A:p.A356A,AMZ2:NM_001346474:exon8:c.T1068A:p.A356A,AMZ2:NM_001346475:exon8:c.T1068A:p.A356A,AMZ2:NM_001346476:exon8:c.T1068A:p.A356A,AMZ2:NM_001346477:exon8:c.T1068A:p.A356A,AMZ2:NM_001346478:exon8:c.T1068A:p.A356A,AMZ2:NM_001346479:exon8:c.T1068A:p.A356A,AMZ2:NM_001346482:exon8:c.T966A:p.A322A,AMZ2:NM_001346483:exon8:c.T966A:p.A322A RS7105 Transcript initiation of AMZ2 in lymphoblastoid cell lines:LDL cholesterol:Waist hip ratio:Gene expression of AMZ2 in liver
17 66449122 2 WIPI1 G A exonic nonsynonymous SNV WIPI1:NM_017983:exon2:c.C92T:p.T31I RS883541 Spine bone mineral density (BMD):Rheumatoid arthritis:Biploar disorder (bipolar schizoaffective disorder):Alzheimer's disease:Total cholesterol:Serum creatinine:Gene expression of WIPI1 in peripheral blood monocytes:Gene expression of BAZ2A in peripheral blood monocytes:Gene expression of PRKAR1A in peripheral blood monocytes:Partial epilepsy:LDL cholesterol:Triglycerides:Asthma:Gene expression of PRKAR1A in blood:Gene expression of ARSG///WIPI1 in blood:Gene expression of WIPI1 in normal prepouch ileum:Primary rhegmatogenous retinal detachment
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 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 72949146 2 HID1 C T exonic synonymous SNV HID1:NM_030630:exon16:c.G2007A:p.P669P RS2307010 Waist hip ratio:Microalbuminuria:Gene expression of USH1G (ENSG00000182040) in dendritic cells:Gene expression change of USH1G (ENSG00000182040) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression change of CDR2L (ENSG00000109089) in dendritic cells after treatment with Mycobacterium tuberculosis:Birth weight
17 72952017 2 HID1 A G exonic synonymous SNV HID1:NM_030630:exon13:c.T1506C:p.T502T
17 73089852 2 SLC16A5 T C exonic synonymous SNV SLC16A5:NM_001271765:exon3:c.T121C:p.L41L,SLC16A5:NM_004695:exon3:c.T121C:p.L41L RS4788863 Gene expression of MRPS7 in peripheral blood monocytes:Tyrosine:Uracil:Uracil:trans-Aconitate
17 73127683 2 NT5C T C exonic synonymous SNV NT5C:NM_001252377:exon1:c.A120G:p.Q40Q,NT5C:NM_014595:exon1:c.A120G:p.Q40Q
17 73230856 2 NUP85 C T exonic synonymous SNV NUP85:NM_001303276:exon16:c.C1602T:p.D534D,NUP85:NM_001330472:exon16:c.C1605T:p.D535D,NUP85:NM_024844:exon17:c.C1740T:p.D580D RS9988 HOMA-IR:Fasting insulin:Triglycerides:Waist hip ratio:Body mass index (BMI):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Years of education:Gene expression of NUP85 (probeID ILMN_1669635) in cerebellum in Alzheimer's disease cases and controls:Birth weight:Infant head circumference:Gene expression of NUP85 (probeID ILMN_1669635) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of NUP85 in normal prepouch ileum:Advanced age-related macular degeneration:Gene expression of MRPS7 in normal prepouch ileum
17 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 73488794 2 TMEM94 C T exonic synonymous SNV TMEM94:NM_001321148:exon14:c.C1866T:p.I622I,TMEM94:NM_001351203:exon14:c.C1866T:p.I622I,TMEM94:NM_001321149:exon15:c.C1848T:p.I616I,TMEM94:NM_001351202:exon15:c.C1788T:p.I596I,TMEM94:NM_014738:exon15:c.C1836T:p.I612I RS4078259 Differential exon level expression of KIAA0195 [probe 3734819] in brain cortex:Asthma:Age at death with kuru exposure:Years of education:Salmonella-induced pyroptosis
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 73512884 2 TSEN54 T G exonic nonsynonymous SNV TSEN54:NM_207346:exon2:c.T114G:p.H38Q RS8079373 Chronic kidney disease:Serum creatinine:Methylation levels at chr17:71033668-71033718 [hg18 coord, probe cg21391660] in Temporal cortex:Years of education
17 73513289 2 TSEN54 C G exonic synonymous SNV TSEN54:NM_207346:exon4:c.C333G:p.R111R RS6501818 Serum creatinine:Chronic kidney disease:Methylation levels at chr17:71033668-71033718 [hg18 coord, probe cg21391660] in Temporal cortex:Years of education
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 73518328 2 TSEN54 A C exonic nonsynonymous SNV TSEN54:NM_207346:exon8:c.A1166C:p.Q389P
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 73750859 2 ITGB4 C G exonic synonymous SNV ITGB4:NM_001005619:exon32:c.C4311G:p.P1437P,ITGB4:NM_001005731:exon33:c.C4311G:p.P1437P,ITGB4:NM_001321123:exon33:c.C4311G:p.P1437P,ITGB4:NM_000213:exon34:c.C4521G:p.P1507P
17 73812909 2 UNK A G exonic synonymous SNV UNK:NM_001080419:exon8:c.A1020G:p.P340P RS9908146 LDL cholesterol:PROP taste detection threshold:Parkinson's disease
17 73816026 2 UNK A G exonic synonymous SNV UNK:NM_001080419:exon13:c.A1674G:p.A558A RS11868471 LDL cholesterol:Chronic kidney disease:PROP taste detection threshold:Parkinson's disease
17 73949540 2 ACOX1 G C exonic nonsynonymous SNV ACOX1:NM_001185039:exon7:c.C822G:p.I274M,ACOX1:NM_004035:exon7:c.C936G:p.I312M,ACOX1:NM_007292:exon7:c.C936G:p.I312M RS1135640 Serum creatinine
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 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 75190962 2 SEC14L1 C T exonic synonymous SNV SEC14L1:NM_001144001:exon5:c.C576T:p.S192S,SEC14L1:NM_001039573:exon7:c.C678T:p.S226S,SEC14L1:NM_001143998:exon7:c.C678T:p.S226S,SEC14L1:NM_001143999:exon7:c.C678T:p.S226S,SEC14L1:NM_003003:exon7:c.C678T:p.S226S,SEC14L1:NM_001204410:exon8:c.C678T:p.S226S,SEC14L1:NM_001204408:exon9:c.C678T:p.S226S RS674402 Refractive error
17 76130575 2 TMC8 A T exonic nonsynonymous SNV TMC8:NM_152468:exon8:c.A917T:p.N306I RS7208422 Lp-PLA2 activity:Waist hip ratio:Maternal transmission distortion
17 76157266 2 C17orf99 T C exonic nonsynonymous SNV C17orf99:NM_001163075:exon3:c.T301C:p.W101R RS4071641 Triglycerides:Fasting blood glucose:Total cholesterol:Waist hip ratio
17 76167047 2 SYNGR2 C T exonic synonymous SNV SYNGR2:NM_001320523:exon2:c.C249T:p.A83A,SYNGR2:NM_004710:exon2:c.C249T:p.A83A
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 76433898 2 DNAH17 T C exonic nonsynonymous SNV DNAH17:NM_173628:exon74:c.A11858G:p.H3953R
17 76449505 2 DNAH17 G C exonic synonymous SNV DNAH17:NM_173628:exon65:c.C10449G:p.T3483T RS2289751 Infant head circumference
17 76462770 2 DNAH17 G A exonic synonymous SNV DNAH17:NM_173628:exon56:c.C8907T:p.S2969S
17 76481693 2 DNAH17 C G exonic synonymous SNV DNAH17:NM_173628:exon47:c.G7422C:p.T2474T RS11872051 Fasting blood glucose
17 76496492 2 DNAH17 A G exonic synonymous SNV DNAH17:NM_173628:exon36:c.T5535C:p.P1845P RS2028734 HOMA-B:HOMA-IR:Fasting insulin:Total cholesterol:LDL cholesterol:Rheumatoid arthritis:Obesity with early age of onset (age >2)
17 76970879 2 LGALS3BP A G exonic synonymous SNV LGALS3BP:NM_005567:exon4:c.T267C:p.D89D
17 77705045 2 ENPP7 T C exonic synonymous SNV ENPP7:NM_178543:exon1:c.T144C:p.D48D RS8074728 HOMA-B:Total cholesterol
17 77926491 2 TBC1D16 G A exonic synonymous SNV TBC1D16:NM_019020:exon4:c.C906T:p.D302D
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 79095144 2 AATK G A exonic synonymous SNV AATK:NM_004920:exon10:c.C2283T:p.A761A,AATK:NM_001080395:exon11:c.C2592T:p.A864A
17 79171967 2 CEP131 A G exonic nonsynonymous SNV CEP131:NM_001009811:exon12:c.T1418C:p.V473A,CEP131:NM_001319228:exon12:c.T1418C:p.V473A,CEP131:NM_001319229:exon12:c.T1418C:p.V473A,CEP131:NM_014984:exon12:c.T1418C:p.V473A
17 79174221 2 CEP131 T C exonic nonsynonymous SNV CEP131:NM_001009811:exon8:c.A814G:p.T272A,CEP131:NM_001319228:exon8:c.A814G:p.T272A,CEP131:NM_001319229:exon8:c.A814G:p.T272A,CEP131:NM_014984:exon8:c.A814G:p.T272A RS2466773 HDL cholesterol:LDL cholesterol:2 hour glucose:LDL cholesterol:Infant head circumference
17 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 79637349 2 CCDC137 T C exonic synonymous SNV CCDC137:NM_199287:exon3:c.T363C:p.S121S
17 79682558 2 SLC25A10 T C exonic synonymous SNV SLC25A10:NM_001270888:exon3:c.T264C:p.R88R,SLC25A10:NM_001270953:exon3:c.T264C:p.R88R,SLC25A10:NM_012140:exon3:c.T264C:p.R88R RS2072700 Myopia:Gene expression of CCDC137 (ENSG00000185298) in dendritic cells treated with Mycobacterium tuberculosis
17 79687218 2 SLC25A10 G A exonic nonsynonymous SNV SLC25A10:NM_001270953:exon11:c.G892A:p.V298I RS11150813 Myopia
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 79954544 2 ASPSCR1 T A exonic nonsynonymous SNV ASPSCR1:NM_001330528:exon6:c.T524A:p.L175Q,ASPSCR1:NM_001251888:exon7:c.T755A:p.L252Q,ASPSCR1:NM_024083:exon7:c.T755A:p.L252Q RS8074498 Serum creatinine:LDL cholesterol:Total cholesterol:Waist hip ratio:Body mass index (BMI):PROP taste detection threshold
17 80006957 2 RFNG A C exonic nonsynonymous SNV RFNG:NM_002917:exon7:c.T864G:p.H288Q
17 80008392 2 RFNG G T exonic synonymous SNV RFNG:NM_002917:exon4:c.C459A:p.A153A RS9916764 Fasting insulin:HOMA-IR:Serum creatinine:Chronic kidney disease:Gene expression of DCXR in peripheral blood monocytes:Total cholesterol:Body mass index (BMI):Paternal transmission distortion:Coronary artery disease (CAD)
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 80391684 2 HEXDC A G exonic nonsynonymous SNV HEXDC:NM_001330542:exon5:c.A433G:p.I145V,HEXDC:NM_173620:exon5:c.A433G:p.I145V RS4789773 Gene expression of NARF in YRI lymphoblastoid cell lines:Gene expression of NARF [probe 219862_s_at] in lymphoblastoid cell lines:Abnormal Involuntary Movement Scale:Total cholesterol:Gene expression of HEXDC in blood:Age at death with kuru exposure:Obesity with early age of onset (age >2):Advanced age-related macular degeneration:Gene expression of NARF in normal prepouch ileum
17 80401946 2 C17orf62 A G exonic synonymous SNV C17orf62:NM_001100408:exon6:c.T456C:p.L152L,C17orf62:NM_001033046:exon7:c.T498C:p.L166L,C17orf62:NM_001193654:exon7:c.T498C:p.L166L,C17orf62:NM_001193655:exon7:c.T498C:p.L166L,C17orf62:NM_001100407:exon8:c.T498C:p.L166L,C17orf62:NM_001193653:exon8:c.T498C:p.L166L,C17orf62:NM_001193657:exon8:c.T498C:p.L166L RS2306758 Gene expression of HEXDC in blood:Comorbid depressive syndrome and alcohol dependence:Gene expression change of C17orf101 (ENSG00000181396) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression change of C17orf62 (ENSG00000178927) in dendritic cells after treatment with Mycobacterium tuberculosis:Hypertension (early onset hypertension)
17 80585094 2 WDR45B C T exonic synonymous SNV WDR45B:NM_019613:exon4:c.G318A:p.K106K
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 80708601 2 FN3K C G exonic synonymous SNV FN3K:NM_022158:exon6:c.C900G:p.S300S RS1056534 Gene expression of FN3KRP in Temporal cortex
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 100668296 2
18 252559 2 THOC1 G A exonic synonymous SNV THOC1:NM_005131:exon9:c.C657T:p.D219D
18 724612 2 YES1 A G exonic synonymous SNV YES1:NM_005433:exon12:c.T1444C:p.L482L
18 2539016 2 METTL4 C G exonic nonsynonymous SNV METTL4:NM_022840:exon9:c.G1402C:p.V468L
18 2608764 1 NDC80 G A exonic synonymous SNV NDC80:NM_006101:exon15:c.G1623A:p.L541L
18 2707619 2 SMCHD1 G A exonic nonsynonymous SNV SMCHD1:NM_015295:exon16:c.G2122A:p.V708I RS2276092 Longstanding arthritis:Height:Atopic dermatitis
18 2724930 2 SMCHD1 A T exonic nonsynonymous SNV SMCHD1:NM_015295:exon21:c.A2637T:p.K879N RS633422 Total cholesterol:Height:Body mass index (BMI):Birth weight:Prostate cancer:Transmission distortion:Maternal transmission distortion:Infant head circumference
18 2763697 2 SMCHD1 C T exonic synonymous SNV SMCHD1:NM_015295:exon37:c.C4629T:p.G1543G RS483547 Total cholesterol:Triglycerides:Height:Birth weight:Advanced age-related macular degeneration (geographic atrophy):Infant head circumference
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 8069868 2 PTPRM C T exonic synonymous SNV PTPRM:NM_001105244:exon8:c.C1317T:p.N439N,PTPRM:NM_002845:exon8:c.C1317T:p.N439N RS2230601 Alzheimer's disease:Microalbuminuria:Comorbid depressive syndrome and alcohol dependence:Bipolar disorder
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 9117867 2 NDUFV2 T C exonic nonsynonymous SNV NDUFV2:NM_021074:exon2:c.T86C:p.V29A RS906807 LDL cholesterol:Years of education
18 9255982 2 ANKRD12 A G exonic nonsynonymous SNV ANKRD12:NM_001083625:exon8:c.A2648G:p.K883R,ANKRD12:NM_001204056:exon8:c.A2648G:p.K883R,ANKRD12:NM_015208:exon9:c.A2717G:p.K906R RS4798791 Schizophrenia:Barnes Akathisia Rating Scale:Celiac disease:Total cholesterol change with statins:LDL cholesterol:LDL cholesterol change with statins:Alopecia areata:Body mass index (BMI):Neuroblastoma (brain cancer):Late onset Alzheimer's disease:Gene expression of ANKRD12 in blood:Years of education:Aortic valve calcium
18 10758023 2 PIEZO2 G A exonic synonymous SNV PIEZO2:NM_022068:exon25:c.C3792T:p.N1264N RS7407105 Salmonella-induced pyroptosis
18 10763007 2 PIEZO2 T C exonic synonymous SNV PIEZO2:NM_022068:exon20:c.A2961G:p.T987T RS7227167 Irritible bowel syndrome:Salmonella-induced pyroptosis
18 12984144 2 SEH1L C A exonic nonsynonymous SNV SEH1L:NM_001013437:exon8:c.C1025A:p.T342N,SEH1L:NM_031216:exon8:c.C1025A:p.T342N RS6505776 Gene expression of CEP192 [probe 218827_s_at] in lymphoblastoid cell lines:Rheumatoid arthritis:Gene expression of CEP192 in blood cells in Celiac disease:Differential exon level expression of CEP192 [probe 3779866] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in brain cortex:Differential exon level expression of CEP192 [probe 3779874] in peripheral blood mononuclear cells:Differential exon level expression of CEP192 [probe 3779864] in brain cortex:Differential exon level expression of CEP192 [probe 3779870] in brain cortex:Differential exon level expression of CEP192 [probe 3779865] in brain cortex:Differential exon level expression of CEP192 [probe 3779862] in brain cortex:Gene expression of CEP192 in Temporal cortex:Gene expression of CEP192 in Caudal pons:LDL cholesterol:Gene expression of CEP192 in CD4+ lymphocytes:Height:Gene expression of CEP192 in blood:Gene expression of SEH1L in blood:Gene expression of CEP192 [probeset 218827_s_at] in sputum:Hypertension (early onset hypertension):Refractive error:Gene expression of CEP192 in normal prepouch ileum:Gene expression of CEP192 (probeID ILMN_1703754) in temporal cortex in Alzheimer's disease cases and controls:Years of education:Primary rhegmatogenous retinal detachment:Gene expression of CEP192 (probeID ILMN_1703754) in cerebellum in Alzheimer's disease cases and controls:Infant head circumference:College completion
18 13001512 2 CEP192 G C exonic nonsynonymous SNV CEP192:NM_032142:exon3:c.G221C:p.G74A RS4499304 Fasting blood glucose:Serum creatinine:Gene expression of CEP192 in Caudal pons:Height:Refractive error:College completion:Years of education
18 13001523 2 CEP192 G A exonic nonsynonymous SNV CEP192:NM_032142:exon3:c.G232A:p.G78R RS11080618 Triglycerides:Serum creatinine:Height:Refractive error:Years of education
18 13056333 2 CEP192 C T exonic synonymous SNV CEP192:NM_032142:exon19:c.C3744T:p.H1248H RS2282541 Triglycerides:Serum creatinine:Comorbid depressive syndrome and alcohol dependence:Gene expression of CEP192 in normal prepouch ileum:Refractive error
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 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 20577669 1 RBBP8 G A exonic synonymous SNV RBBP8:NM_002894:exon14:c.G2115A:p.K705K,RBBP8:NM_203291:exon14:c.G2115A:p.K705K,RBBP8:NM_203292:exon14:c.G2115A:p.K705K
18 21100240 1 C18orf8 C T exonic synonymous SNV C18orf8:NM_001318707:exon7:c.C453T:p.P151P,C18orf8:NM_001276342:exon8:c.C780T:p.P260P,C18orf8:NM_001318709:exon8:c.C780T:p.P260P,C18orf8:NM_001318708:exon9:c.C453T:p.P151P,C18orf8:NM_013326:exon10:c.C924T:p.P308P RS1367083 Fasting blood glucose:LDL cholesterol:Height:Body mass index (BMI):Mitral annular calcium:Years of education:College completion
18 21120444 1 NPC1 T C exonic nonsynonymous SNV NPC1:NM_000271:exon17:c.A2572G:p.I858V RS1805082 Fasting blood glucose:Childhood acute lymphoblastic leukemia:Gene expression of NPC1 in peripheral blood monocytes:HDL cholesterol:LDL cholesterol:Height:Body mass index (BMI):Diastolic blood pressure (DBP):Years of education:College completion:Mitral annular calcium
18 21124945 2 NPC1 C G exonic nonsynonymous SNV NPC1:NM_000271:exon12:c.G1926C:p.M642I RS1788799 HOMA-IR:Height:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Obesity with early age of onset (age >2):College completion:Years of education
18 21148863 1 NPC1 A G exonic synonymous SNV NPC1:NM_000271:exon4:c.T387C:p.Y129Y RS12970899 Lp-PLA2 activity:HDL cholesterol:Urinary albumin-to-creatinine ratio:Late onset Alzheimer's disease:Gene expression of C18orf8///NPC1 in blood:Amyotrophic lateral sclerosis (ALS) age of onset
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 25563015 1 CDH2 G C exonic nonsynonymous SNV CDH2:NM_001308176:exon13:c.C2149G:p.R717G,CDH2:NM_001792:exon14:c.C2242G:p.R748G
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 28649042 1 DSC2 T C exonic nonsynonymous SNV DSC2:NM_004949:exon15:c.A2326G:p.I776V,DSC2:NM_024422:exon15:c.A2326G:p.I776V RS1893963 Schizophrenia:AraC toxicity as measured by AraC IC50 in lymphoblastoid cell lines:Triglycerides change with statins:Rheumatoid arthritis:Age at death with kuru exposure:Advanced age-related macular degeneration (geographic atrophy):Coronary artery disease (CAD):Birth weight:Tetrology of fallot
18 28673565 1 DSC2 T C exonic synonymous SNV DSC2:NM_004949:exon2:c.A111G:p.L37L,DSC2:NM_024422:exon2:c.A111G:p.L37L
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 29126592 1 DSG2 C T exonic synonymous SNV DSG2:NM_001943:exon15:c.C3243T:p.V1081V
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 30349691 1 KLHL14 C T exonic synonymous SNV KLHL14:NM_020805:exon2:c.G864A:p.P288P
18 32470291 2 DTNA G A exonic nonsynonymous SNV DTNA:NM_001198938:exon20:c.G2062A:p.E688K
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 32920361 1 ZNF24 G A exonic nonsynonymous SNV ZNF24:NM_001308123:exon2:c.C254T:p.T85M,ZNF24:NM_006965:exon2:c.C254T:p.T85M
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 33694120 2 SLC39A6 G A exonic synonymous SNV SLC39A6:NM_001099406:exon6:c.C958T:p.L320L,SLC39A6:NM_012319:exon7:c.C1783T:p.L595L RS1050631 Cystatin C in serum:Rheumatoid arthritis:Gene expression of PHF6 in peripheral blood monocytes:Gene expression of ELP2 in peripheral blood monocytes:Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease:Adiponectin levels:Survival after esophageal squamous-cell carcinoma (Esophageal cancer):Gene expression of SLC39A6 (ENSG00000141424) in dendritic cells:Refractive error:Gene expression of ELP2 (probeID ILMN_1709132) in temporal cortex in Alzheimer's disease cases and controls:Paternal transmission distortion:Gene expression of ELP2 (probeID ILMN_1709132) in cerebellum in Alzheimer's disease cases and controls:Gene expression of SLC39A6 (ENSG00000141424) in dendritic cells treated with Mycobacterium tuberculosis:Transmission distortion
18 33706614 2 SLC39A6 C G exonic nonsynonymous SNV SLC39A6:NM_012319:exon2:c.G357C:p.E119D
18 33718326 2 ELP2 A C exonic nonsynonymous SNV ELP2:NM_001242875:exon4:c.A382C:p.T128P,ELP2:NM_001242876:exon4:c.A382C:p.T128P,ELP2:NM_001242877:exon4:c.A382C:p.T128P,ELP2:NM_001242878:exon4:c.A382C:p.T128P,ELP2:NM_001242879:exon4:c.A382C:p.T128P,ELP2:NM_001324465:exon4:c.A382C:p.T128P,ELP2:NM_001324466:exon4:c.A382C:p.T128P,ELP2:NM_001324467:exon4:c.A382C:p.T128P,ELP2:NM_018255:exon4:c.A382C:p.T128P RS1785934 Cystatin C in serum:Adiponectin levels:Gene expression of ELP2 (probeID ILMN_1709132) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ELP2 (probeID ILMN_1709132) in cerebellum in Alzheimer's disease cases and controls
18 33725931 2 ELP2 G A exonic nonsynonymous SNV ELP2:NM_001242879:exon7:c.G703A:p.V235M,ELP2:NM_001242877:exon9:c.G835A:p.V279M,ELP2:NM_001242878:exon9:c.G835A:p.V279M,ELP2:NM_001324468:exon9:c.G466A:p.V156M,ELP2:NM_001242876:exon10:c.G1030A:p.V344M,ELP2:NM_001324465:exon10:c.G913A:p.V305M,ELP2:NM_001324466:exon10:c.G1030A:p.V344M,ELP2:NM_001324467:exon10:c.G913A:p.V305M,ELP2:NM_018255:exon10:c.G913A:p.V305M,ELP2:NM_001242875:exon11:c.G1108A:p.V370M RS1785928 Differential exon level expression of ELP2 [probe 3784747] in brain cortex:Differential exon level expression of ELP2 [probe 3784736] in peripheral blood mononuclear cells:Differential exon level expression of ELP2 [probe 3784747] in peripheral blood mononuclear cells:Cystatin C in serum:Gene expression of ELP2 in peripheral blood monocytes:Gene expression of RPRD1A in blood:Gene expression of STATIP1 in blood:Gene expression of ELP2 (probeID ILMN_1709132) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ELP2 (probeID ILMN_1709132) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ELP2 (probeID ILMN_1709132) in temporal cortex in Progressive Supranuclear Palsy cases:Adiponectin levels:Gene expression of ELP2 (probeID ILMN_1709132) in cerebellum in Alzheimer's disease cases:Gene expression of ELP2 (probeID ILMN_1709132) in temporal cortex in Alzheimer's disease cases:Gene expression of ELP2 (probeID ILMN_1709132) in cerebellum in non-Alzheimer's disease samples:Gene expression of ELP2 (probeID ILMN_1709132) in cerebellum in Progressive Supranuclear Palsy cases
18 33750046 2 ELP2 C T exonic synonymous SNV ELP2:NM_001242879:exon17:c.C1887T:p.C629C,ELP2:NM_001242878:exon18:c.C1887T:p.C629C,ELP2:NM_001242876:exon19:c.C2082T:p.C694C,ELP2:NM_001242877:exon19:c.C2019T:p.C673C,ELP2:NM_001324465:exon19:c.C1965T:p.C655C,ELP2:NM_001324467:exon19:c.C1947T:p.C649C,ELP2:NM_001324468:exon19:c.C1650T:p.C550C,ELP2:NM_001324466:exon20:c.C2214T:p.C738C,ELP2:NM_018255:exon20:c.C2097T:p.C699C,ELP2:NM_001242875:exon21:c.C2292T:p.C764C RS8299 Triglycerides:Gene expression of STATIP1 probe [GI_8922734-S] in brain cortex with no Alzheimer's interaction:Gene expression of ELP2 in peripheral blood monocytes:Gene expression of ZSWIM4 in peripheral blood monocytes:Bipolar disorder:Gene expression of ELP2 (probeID ILMN_1709132) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ELP2 (probeID ILMN_1709132) in cerebellum in Alzheimer's disease cases and controls:Maternal transmission distortion:Adiponectin levels:Transmission distortion
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 33848581 1 MOCOS T C exonic nonsynonymous SNV MOCOS:NM_017947:exon15:c.T2600C:p.V867A RS1057251 Simpson-Angus Scale:Advanced age-related macular degeneration (geographic atrophy):Hypertension (early onset hypertension):Mitral annular calcium
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 44407993 1 PIAS2 G A exonic synonymous SNV PIAS2:NM_001324058:exon11:c.C1437T:p.D479D,PIAS2:NM_004671:exon11:c.C1437T:p.D479D,PIAS2:NM_173206:exon11:c.C1437T:p.D479D,PIAS2:NM_001324047:exon12:c.C1410T:p.D470D,PIAS2:NM_001324051:exon12:c.C1410T:p.D470D,PIAS2:NM_001324054:exon12:c.C1410T:p.D470D,PIAS2:NM_001324046:exon13:c.C1410T:p.D470D,PIAS2:NM_001324048:exon13:c.C1410T:p.D470D,PIAS2:NM_001324055:exon13:c.C1410T:p.D470D,PIAS2:NM_001324059:exon13:c.C1410T:p.D470D,PIAS2:NM_001324049:exon14:c.C1410T:p.D470D,PIAS2:NM_001324052:exon14:c.C1410T:p.D470D,PIAS2:NM_001324053:exon14:c.C1410T:p.D470D,PIAS2:NM_001324057:exon14:c.C1410T:p.D470D
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 47455923 1 MYO5B C T exonic synonymous SNV MYO5B:NM_001080467:exon17:c.G2049A:p.V683V RS2298628 HDL cholesterol:Mean telomere length:HDL cholesterol:Systolic blood pressure (SBP)
18 47563299 2 MYO5B T C exonic nonsynonymous SNV MYO5B:NM_001080467:exon4:c.A376G:p.T126A
18 47800179 1 MBD1 G C exonic nonsynonymous SNV MBD1:NM_001323954:exon10:c.C964G:p.P322A,MBD1:NM_001204141:exon11:c.C1051G:p.P351A,MBD1:NM_001204143:exon11:c.C1033G:p.P345A,MBD1:NM_001204151:exon11:c.C1132G:p.P378A,MBD1:NM_001323952:exon11:c.C958G:p.P320A,MBD1:NM_001323953:exon11:c.C625G:p.P209A,MBD1:NM_002384:exon11:c.C1033G:p.P345A,MBD1:NM_015844:exon11:c.C1033G:p.P345A,MBD1:NM_015845:exon11:c.C1132G:p.P378A,MBD1:NM_015847:exon11:c.C1054G:p.P352A,MBD1:NM_001204136:exon12:c.C1201G:p.P401A,MBD1:NM_001204139:exon12:c.C1201G:p.P401A,MBD1:NM_001204140:exon12:c.C1108G:p.P370A,MBD1:NM_001204142:exon12:c.C1201G:p.P401A,MBD1:NM_001323950:exon12:c.C1198G:p.P400A,MBD1:NM_001323951:exon12:c.C1201G:p.P401A,MBD1:NM_015846:exon12:c.C1201G:p.P401A,MBD1:NM_001204137:exon13:c.C1276G:p.P426A,MBD1:NM_001204138:exon13:c.C1273G:p.P425A,MBD1:NM_001323942:exon13:c.C1276G:p.P426A,MBD1:NM_001323947:exon13:c.C1276G:p.P426A,MBD1:NM_001323949:exon13:c.C769G:p.P257A RS125555 Microalbuminuria:PROP taste detection threshold:Gene expression change of MBD1 (ENSG00000141644) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of MBD1 in normal prepouch ileum
18 47810351 1 CXXC1 A G exonic synonymous SNV CXXC1:NM_001101654:exon10:c.T1338C:p.T446T,CXXC1:NM_014593:exon10:c.T1326C:p.T442T RS7228084 Microalbuminuria:Urinary albumin-to-creatinine ratio
18 48723217 2 MEX3C C T exonic synonymous SNV MEX3C:NM_016626:exon1:c.G474A:p.P158P
18 51820805 1 POLI G A exonic nonsynonymous SNV POLI:NM_001351616:exon8:c.G1828A:p.A610T,POLI:NM_001351610:exon9:c.G2065A:p.A689T,POLI:NM_001351613:exon9:c.G1954A:p.A652T,POLI:NM_001351614:exon9:c.G1882A:p.A628T,POLI:NM_001351615:exon9:c.G1882A:p.A628T,POLI:NM_001351617:exon9:c.G1648A:p.A550T,POLI:NM_001351620:exon9:c.G1411A:p.A471T,POLI:NM_001351611:exon10:c.G1987A:p.A663T,POLI:NM_001351612:exon10:c.G1987A:p.A663T,POLI:NM_001351618:exon10:c.G1648A:p.A550T,POLI:NM_001351619:exon10:c.G1648A:p.A550T,POLI:NM_001351632:exon10:c.G2116A:p.A706T,POLI:NM_007195:exon10:c.G2191A:p.A731T RS8305 Differential exon level expression of POLI [probe 3788863] in brain cortex:LDL cholesterol change with statins:Partial epilepsy:Microalbuminuria:Urinary albumin-to-creatinine ratio:Late onset Alzheimer's disease:Gene expression of POLI [probeset 219317_at] in sputum:Sporadic Creutzfeldt-Jakob disease:Refractive error
18 55317676 2 ATP8B1 C T exonic nonsynonymous SNV ATP8B1:NM_005603:exon27:c.G3454A:p.A1152T
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 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 56202982 2 ALPK2 A T exonic synonymous SNV ALPK2:NM_052947:exon5:c.T4437A:p.A1479A
18 56203411 2 ALPK2 G C exonic synonymous SNV ALPK2:NM_052947:exon5:c.C4008G:p.P1336P RS3809980 Waist hip ratio:Diastolic blood pressure (DBP)
18 56203447 2 ALPK2 A G exonic synonymous SNV ALPK2:NM_052947:exon5:c.T3972C:p.H1324H
18 56203891 2 ALPK2 G T exonic synonymous SNV ALPK2:NM_052947:exon5:c.C3528A:p.P1176P
18 56203898 2 ALPK2 T G exonic nonsynonymous SNV ALPK2:NM_052947:exon5:c.A3521C:p.H1174P RS3809977 Celiac disease:Waist hip ratio:Diastolic blood pressure (DBP):Resistance to kuru in aged women despite likely exposure
18 56204250 2 ALPK2 A C exonic nonsynonymous SNV ALPK2:NM_052947:exon5:c.T3169G:p.L1057V RS3809976 Barnes Akathisia Rating Scale:Waist hip ratio:Diastolic blood pressure (DBP):Resistance to kuru in aged women despite likely exposure
18 56204644 1 ALPK2 T G exonic synonymous SNV ALPK2:NM_052947:exon5:c.A2775C:p.V925V RS12963422 Rheumatoid arthritis:Comorbid depressive syndrome and alcohol dependence:College completion
18 56204671 1 ALPK2 A T exonic nonsynonymous SNV ALPK2:NM_052947:exon5:c.T2748A:p.N916K RS4940404 Height
18 56204747 2 ALPK2 G A exonic nonsynonymous SNV ALPK2:NM_052947:exon5:c.C2672T:p.T891I RS3826593 HDL cholesterol:Height:Variant Creutzfeldt-Jakob disease:Resistance to kuru in aged women despite likely exposure:Infant head circumference
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 60191428 1 ZCCHC2 G A exonic synonymous SNV ZCCHC2:NM_017742:exon1:c.G771A:p.E257E RS7229802 College completion:Years of education
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 60242740 1 ZCCHC2 T C exonic synonymous SNV ZCCHC2:NM_017742:exon13:c.T3426C:p.Y1142Y
18 61650865 2 SERPINB8 G A exonic synonymous SNV SERPINB8:NM_001031848:exon5:c.G477A:p.L159L,SERPINB8:NM_001348367:exon5:c.G477A:p.L159L,SERPINB8:NM_001348368:exon5:c.G477A:p.L159L,SERPINB8:NM_001348369:exon5:c.G477A:p.L159L,SERPINB8:NM_002640:exon5:c.G477A:p.L159L,SERPINB8:NM_198833:exon5:c.G477A:p.L159L
18 61654463 1 SERPINB8 A G exonic nonsynonymous SNV SERPINB8:NM_001348370:exon5:c.A536G:p.H179R,SERPINB8:NM_001276490:exon6:c.A530G:p.H177R,SERPINB8:NM_002640:exon7:c.A1076G:p.H359R,SERPINB8:NM_198833:exon7:c.A1076G:p.H359R RS3826616 Triglycerides:Gene expression of SERPINB8 in normal prepouch ileum
18 67992684 1 SOCS6 C T exonic synonymous SNV SOCS6:NM_004232:exon2:c.C780T:p.R260R RS1047657 Fasting blood glucose:HDL cholesterol change with statins:Urinary albumin-to-creatinine ratio:Microalbuminuria:Mitral annular calcium
18 72914280 1 ZADH2 G A exonic synonymous SNV ZADH2:NM_175907:exon2:c.C225T:p.N75N RS7230037 Gene expression of ZADH2 in liver:Differential exon level expression of ZADH2 [probe 3813623] in peripheral blood mononuclear cells:Gene expression of ZADH2 [probeset 227977_at] in sputum:Gene expression of ZADH2 [probeset 227049_at] in sputum:Gene expression of ZADH2 [probeset 234977_at] in sputum:Gene expression of ZADH2 [probeset 227978_s_at] in sputum:Gene expression of ZADH2 [probeset 237776_at] in sputum:Gene expression of ZADH2 in normal prepouch ileum
18 73000005 1 TSHZ1 G A exonic synonymous SNV TSHZ1:NM_001308210:exon2:c.G2643A:p.P881P,TSHZ1:NM_005786:exon2:c.G2508A:p.P836P
18 77067000 2 ATP9B T G exonic synonymous SNV ATP9B:NM_001306085:exon15:c.T1539G:p.A513A,ATP9B:NM_198531:exon15:c.T1539G:p.A513A RS3760541 LDL cholesterol:Serum creatinine
18 77440128 2 CTDP1 T G exonic nonsynonymous SNV CTDP1:NM_001318511:exon1:c.T181G:p.S61A,CTDP1:NM_004715:exon1:c.T181G:p.S61A,CTDP1:NM_048368:exon1:c.T181G:p.S61A
18 77475455 1 CTDP1 G A exonic synonymous SNV CTDP1:NM_001202504:exon8:c.G1638A:p.A546A,CTDP1:NM_001318511:exon8:c.G1995A:p.A665A,CTDP1:NM_004715:exon8:c.G1995A:p.A665A,CTDP1:NM_048368:exon8:c.G1995A:p.A665A
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 77805949 1 RBFA A C exonic nonsynonymous SNV RBFA:NM_024805:exon7:c.A826C:p.K276Q RS3744873 Urinary albumin-to-creatinine ratio:Adiponectin levels
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 418948 1 SHC2 C T exonic nonsynonymous SNV SHC2:NM_012435:exon12:c.G1729A:p.V577M
19 532066 1 CDC34 C T exonic synonymous SNV CDC34:NM_004359:exon1:c.C135T:p.I45I
19 580665 1 BSG T C exonic synonymous SNV BSG:NM_198591:exon3:c.T135C:p.A45A,BSG:NM_001322243:exon4:c.T327C:p.A109A,BSG:NM_198589:exon4:c.T327C:p.A109A,BSG:NM_198590:exon4:c.T48C:p.A16A,BSG:NM_001728:exon5:c.T675C:p.A225A
19 619021 1 POLRMT G C exonic synonymous SNV POLRMT:NM_005035:exon15:c.C3243G:p.P1081P
19 621148 1 POLRMT C T exonic synonymous SNV POLRMT:NM_005035:exon10:c.G2550A:p.G850G
19 621712 1 POLRMT A G exonic synonymous SNV POLRMT:NM_005035:exon10:c.T1986C:p.A662A
19 622336 1 POLRMT T G exonic nonsynonymous SNV POLRMT:NM_005035:exon9:c.A1664C:p.E555A
19 625198 1 POLRMT A G exonic synonymous SNV POLRMT:NM_005035:exon4:c.T879C:p.T293T
19 632915 1 POLRMT G A exonic nonsynonymous SNV POLRMT:NM_005035:exon2:c.C112T:p.P38S
19 731144 1 PALM A G exonic nonsynonymous SNV PALM:NM_001040134:exon5:c.A319G:p.T107A,PALM:NM_002579:exon5:c.A319G:p.T107A RS1050457 Cystatin C in serum:Rheumatoid arthritis:LDL cholesterol:Age at menarche
19 868115 2 MED16 C T exonic nonsynonymous SNV MED16:NM_005481:exon16:c.G2620A:p.E874K RS13090 HDL cholesterol:Gene expression of CFD in blood cells in Celiac disease:2 hour glucose:LDL cholesterol:Total cholesterol:Partial epilepsy:Gene expression of MED16 in CD4+ lymphocytes:Gene expression of CFD in CD4+ lymphocytes:Gene expression of KISS1R in CD4+ lymphocytes:Age at menarche:Gene expression of CFD in blood:Gene expression of C19orf22 in blood:Gene expression of MED16 in blood:Gene expression of KISS1R in blood:Gene expression of ELA2 in blood:Gene expression of CFD [probeset 205382_s_at] in sputum:Gene expression of CFD (probeID ILMN_1777190) in cerebellum in Alzheimer's disease cases and controls:Gene expression of CFD (probeID ILMN_1777190) in temporal cortex in Alzheimer's disease cases and controls
19 871135 2 MED16 A G exonic synonymous SNV MED16:NM_005481:exon13:c.T2217C:p.V739V RS1683569 2 hour glucose:LDL cholesterol:Total cholesterol:Gene expression of CFD (probeID ILMN_1777190) in cerebellum in Alzheimer's disease cases and controls:Gene expression of CFD (probeID ILMN_1777190) in temporal cortex in Alzheimer's disease cases and controls
19 871987 1 MED16 G A exonic synonymous SNV MED16:NM_005481:exon12:c.C2037T:p.T679T
19 872089 1 MED16 A G exonic synonymous SNV MED16:NM_005481:exon12:c.T1935C:p.F645F
19 875389 2 MED16 G A exonic synonymous SNV MED16:NM_005481:exon10:c.C1626T:p.T542T
19 885818 2 MED16 A G exonic synonymous SNV MED16:NM_005481:exon5:c.T831C:p.F277F RS1060442 Rheumatoid arthritis:Gene expression of THRAP5 in peripheral blood monocytes:Gene expression of CFD in peripheral blood monocytes:Partial epilepsy:Microalbuminuria:Gene expression of C19orf22 [transcript NM_138774, probe A_23_P315286] in liver:Gene expression of RNF126 [transcript NM_194460, probe A_23_P314086] in liver:Gene expression of WDR18 in blood:Gene expression of MED16 in blood:Gene expression of KISS1R in blood:Gene expression of CFD in blood:Stroke
19 890165 2 MED16 G A exonic synonymous SNV MED16:NM_005481:exon3:c.C249T:p.A83A
19 917526 1 KISS1R A G exonic synonymous SNV KISS1R:NM_032551:exon1:c.A24G:p.G8G
19 929753 1 ARID3A A G exonic synonymous SNV ARID3A:NM_005224:exon2:c.A225G:p.P75P
19 965043 2 ARID3A T C exonic synonymous SNV ARID3A:NM_005224:exon6:c.T1161C:p.N387N
19 966693 2 ARID3A C T exonic synonymous SNV ARID3A:NM_005224:exon7:c.C1320T:p.A440A RS6510986 LDL cholesterol change with statins:Chronic kidney disease:Serum creatinine:LDL cholesterol:HDL cholesterol:Total cholesterol:Triglycerides:Age at menarche:Adiponectin levels
19 971933 1 ARID3A A G exonic synonymous SNV ARID3A:NM_005224:exon9:c.A1650G:p.G550G RS1051504 Gene expression of ARID3A [probe 205865_at] in lymphoblastoid cell lines:Adiponectin levels
19 971949 2 ARID3A G A exonic nonsynonymous SNV ARID3A:NM_005224:exon9:c.G1666A:p.G556S
19 984479 1 WDR18 C T exonic synonymous SNV WDR18:NM_024100:exon1:c.C126T:p.R42R
19 984533 1 WDR18 T C exonic synonymous SNV WDR18:NM_024100:exon1:c.T180C:p.N60N RS2301810 Gene expression of WDR18 [probe 209461_x_at] in lymphoblastoid cell lines:Total cholesterol:HDL cholesterol:Triglycerides:LDL cholesterol:Mitral annular calcium
19 984537 1 WDR18 A G exonic nonsynonymous SNV WDR18:NM_024100:exon1:c.A184G:p.I62V
19 984554 1 WDR18 C G exonic synonymous SNV WDR18:NM_024100:exon1:c.C201G:p.L67L RS4806884 Gene expression of WDR18 [probe 209461_x_at] in lymphoblastoid cell lines:Total cholesterol:HDL cholesterol:Triglycerides:Mitral annular calcium
19 990281 2 WDR18 G A exonic nonsynonymous SNV WDR18:NM_024100:exon4:c.G514A:p.A172T RS2158367 LDL cholesterol:Total cholesterol:Cystatin C in serum:Triglycerides:Age at menarche
19 991129 1 WDR18 G A exonic nonsynonymous SNV WDR18:NM_024100:exon6:c.G790A:p.V264I
19 1010396 1 TMEM259 G C exonic nonsynonymous SNV TMEM259:NM_001033026:exon11:c.C1816G:p.P606A
19 1010691 1 TMEM259 A G exonic synonymous SNV TMEM259:NM_001033026:exon11:c.T1521C:p.P507P
19 1014377 1 TMEM259 A G exonic synonymous SNV TMEM259:NM_001033026:exon2:c.T321C:p.R107R,TMEM259:NM_033420:exon2:c.T321C:p.R107R RS1058506 Microalbuminuria:Gene expression of WDR18 (probeID ILMN_1694479) in breast tumors
19 1014398 1 TMEM259 A G exonic synonymous SNV TMEM259:NM_001033026:exon2:c.T300C:p.H100H,TMEM259:NM_033420:exon2:c.T300C:p.H100H RS7146 Eye color:Irritible bowel syndrome:LDL cholesterol:Differential exon level expression of C19orf6 [probe 3844924] in brain cortex:Gene expression of WDR18 [probe 3815328] in peripheral blood mononuclear cells:Gene expression of WDR18 in blood:Gene expression of CNN2 in blood:Gene expression of ABCA7 in blood:Gene expression of GRIN3B///C19orf6 in blood:Gene expression of C19orf6 (probeID ILMN_2326282) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of C19orf6 (probeID ILMN_2326282) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C19orf6 (probeID ILMN_2326282) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of C19orf6 (probeID ILMN_2326282) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of C19orf6 (probeID ILMN_2326282) in temporal cortex in Alzheimer's disease cases:Gene expression of C19orf6 (probeID ILMN_2326282) in cerebellum in non-Alzheimer's disease samples:Gene expression of C19orf6 (probeID ILMN_2326282) in cerebellum in Alzheimer's disease cases
19 1036552 1 CNN2 T C exonic synonymous SNV CNN2:NM_201277:exon5:c.T528C:p.C176C,CNN2:NM_001303499:exon6:c.T612C:p.C204C,CNN2:NM_001303501:exon6:c.T708C:p.C236C,CNN2:NM_004368:exon6:c.T645C:p.C215C RS2304262 Aortic valve calcium
19 1052005 1 ABCA7 C T exonic synonymous SNV ABCA7:NM_019112:exon22:c.C3027T:p.A1009A RS3764652 Serum creatinine:Triglycerides:HDL cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio:Lung function, forced expiratory volume in 1 second (FEV1) percent predicted (in asthmatic participants)
19 1054060 1 ABCA7 A G exonic synonymous SNV ABCA7:NM_019112:exon26:c.A3528G:p.L1176L RS3752243 Childhood acute lymphoblastic leukemia:Serum creatinine:Triglycerides:Height:Microalbuminuria:Urinary albumin-to-creatinine ratio:Diastolic blood pressure (DBP):Lung function, forced expiratory volume in 1 second (FEV1) percent predicted (in asthmatic participants)
19 1055191 1 ABCA7 G A exonic nonsynonymous SNV ABCA7:NM_019112:exon30:c.G4046A:p.R1349Q
19 1064193 1 ABCA7 G A exonic synonymous SNV ABCA7:NM_019112:exon45:c.G5985A:p.L1995L RS4147930 Asthma
19 1065018 1 ABCA7 G T exonic nonsynonymous SNV ABCA7:NM_019112:exon46:c.G6133T:p.A2045S
19 1077985 1 ARHGAP45 A G exonic nonsynonymous SNV ARHGAP45:NM_001282334:exon1:c.A220G:p.S74G,ARHGAP45:NM_001282335:exon10:c.A964G:p.S322G,ARHGAP45:NM_001258328:exon11:c.A1363G:p.S455G,ARHGAP45:NM_001321232:exon11:c.A1327G:p.S443G,ARHGAP45:NM_012292:exon11:c.A1315G:p.S439G
19 1080311 1 ARHGAP45 G C exonic synonymous SNV ARHGAP45:NM_001282334:exon4:c.G666C:p.P222P,ARHGAP45:NM_001282335:exon13:c.G1410C:p.P470P,ARHGAP45:NM_001258328:exon14:c.G1809C:p.P603P,ARHGAP45:NM_001321232:exon14:c.G1773C:p.P591P,ARHGAP45:NM_012292:exon14:c.G1761C:p.P587P RS2074454 Refractive error:Gene expression of ABCA7 (probeID ILMN_1743205) in cerebellum in Alzheimer's disease cases and controls
19 1081617 1 ARHGAP45 A G exonic synonymous SNV ARHGAP45:NM_001282334:exon8:c.A1164G:p.Q388Q,ARHGAP45:NM_001282335:exon17:c.A1908G:p.Q636Q,ARHGAP45:NM_001258328:exon18:c.A2307G:p.Q769Q,ARHGAP45:NM_001321232:exon18:c.A2271G:p.Q757Q,ARHGAP45:NM_012292:exon18:c.A2259G:p.Q753Q RS10404947 Body mass index (BMI):Gene expression of ABCA7 (probeID ILMN_1743205) in cerebellum in Alzheimer's disease cases and controls:Refractive error
19 1094004 2 POLR2E G A exonic nonsynonymous SNV POLR2E:NM_002695:exon2:c.C131T:p.S44F
19 1104874 1 GPX4 C T exonic unknown UNKNOWN
19 1106615 2 GPX4 T C exonic unknown UNKNOWN RS713041 HDL cholesterol:HDL cholesterol:Height:College completion:Parkinson's disease:Advanced age-related macular degeneration (geographic atrophy):Gene expression of SBNO2 (ENSG00000064932) in dendritic cells
19 1110829 1 SBNO2 G A exonic synonymous SNV SBNO2:NM_001100122:exon23:c.C2772T:p.N924N,SBNO2:NM_014963:exon26:c.C2943T:p.N981N RS2302109 Irritible bowel syndrome:Schizophrenia:HDL cholesterol:Gene expression of GPX4 in blood:Advanced age-related macular degeneration (geographic atrophy):Primary rhegmatogenous retinal detachment:Parkinson's disease
19 1119963 1 SBNO2 A G exonic synonymous SNV SBNO2:NM_001100122:exon9:c.T1038C:p.A346A,SBNO2:NM_014963:exon12:c.T1209C:p.A403A RS2074921 HDL cholesterol:HDL cholesterol:Height:Parkinson's disease:College completion
19 1256998 2 MIDN C T exonic synonymous SNV MIDN:NM_177401:exon8:c.C1134T:p.D378D
19 1272040 1 CIRBP T C exonic synonymous SNV CIRBP:NM_001280:exon6:c.T492C:p.Y164Y,CIRBP:NM_001300815:exon6:c.T492C:p.Y164Y,CIRBP:NM_001300829:exon6:c.T492C:p.Y164Y RS12488 Chronic kidney disease
19 1277275 1 C19orf24 G C exonic synonymous SNV C19orf24:NM_017914:exon2:c.G375C:p.V125V RS757292 Urinary albumin-to-creatinine ratio
19 1357082 2 MUM1 T C exonic synonymous SNV MUM1:NM_032853:exon3:c.T135C:p.S45S RS713042 Gene expression of CNN2 in CHB-JPT lymphoblastoid cell lines:Gene expression of MUM1 in CHB-JPT lymphoblastoid cell lines:Gene expression of MUM1 [probe 229033_s_at] in lymphoblastoid cell lines:Gene expression of probe 230461_s_at in lymphoblastoid cell lines:Psoriasis and/or psoriatic arthritis:Psoriasis only (no arthritis):Psoriatic arthritis:Spine bone mineral density (BMD):Rheumatoid arthritis:Longstanding arthritis:HOMA-IR:Gene expression of MUM1 in normal prepouch ileum:Hypertension (early onset hypertension)
19 1360575 2 MUM1 G A exonic nonsynonymous SNV MUM1:NM_032853:exon5:c.G658A:p.G220R RS3826942 HOMA-IR:Fasting insulin:Gene expression of CNN2 in CHB-JPT lymphoblastoid cell lines:Gene expression of MUM1 in CHB-JPT lymphoblastoid cell lines:Psoriasis and/or psoriatic arthritis:Psoriasis only (no arthritis):Psoriatic arthritis:Spine bone mineral density (BMD):Gene expression of MUM1 in blood:Gene expression of MUM1 [probeset 223347_at] in sputum:Gene expression of MUM1 (probeID ILMN_1764764) in cerebellum in Alzheimer's disease cases and controls:Years of education:Hypertension (early onset hypertension):Gene expression of MUM1 (probeID ILMN_1764764) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of MUM1 in normal prepouch ileum:Pulmonary arterial hypertension (PAH)
19 1360981 1 MUM1 C T exonic nonsynonymous SNV MUM1:NM_032853:exon5:c.C1064T:p.A355V
19 1370741 1 MUM1 G A exonic synonymous SNV MUM1:NM_032853:exon12:c.G1653A:p.L551L
19 1434842 1 DAZAP1 C T exonic synonymous SNV DAZAP1:NM_018959:exon12:c.C1155T:p.P385P
19 1619333 1 TCF3 G A exonic synonymous SNV TCF3:NM_001136139:exon14:c.C1308T:p.G436G,TCF3:NM_003200:exon15:c.C1308T:p.G436G
19 1619339 1 TCF3 T C exonic synonymous SNV TCF3:NM_001136139:exon14:c.A1302G:p.S434S,TCF3:NM_003200:exon15:c.A1302G:p.S434S
19 2110746 1 AP3D1 G A exonic synonymous SNV AP3D1:NM_003938:exon25:c.C2949T:p.S983S,AP3D1:NM_001261826:exon27:c.C3135T:p.S1045S RS20567 HOMA-IR:Fasting insulin:Height:Waist hip ratio:Urinary albumin-to-creatinine ratio:Gene expression of AP3D1 (ENSG00000065000) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of AP3D1 in normal prepouch ileum
19 2116649 1 AP3D1 A G exonic synonymous SNV AP3D1:NM_001261826:exon17:c.T1956C:p.R652R,AP3D1:NM_003938:exon17:c.T1956C:p.R652R
19 2226772 1 DOT1L G C exonic nonsynonymous SNV DOT1L:NM_032482:exon27:c.G4252C:p.V1418L RS2302061 Fasting blood glucose:Urinary albumin-to-creatinine ratio:Systolic blood pressure (SBP):Gene expression of SF3A2 (probeID ILMN_1754220) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of SF3A2 (probeID ILMN_1754220) in cerebellum in Alzheimer's disease cases and controls
19 2344022 1 SPPL2B G A exonic unknown UNKNOWN
19 2353150 1 SPPL2B C A exonic unknown UNKNOWN
19 2433890 1 LMNB2 A G exonic synonymous SNV LMNB2:NM_032737:exon8:c.T1416C:p.G472G RS11084940 HDL cholesterol:Gene expression of TIMM13 in normal prepouch ileum
19 2732986 1 SLC39A3 T C exonic synonymous SNV SLC39A3:NM_144564:exon3:c.A708G:p.V236V
19 2733250 2 SLC39A3 C T exonic synonymous SNV SLC39A3:NM_144564:exon3:c.G444A:p.V148V
19 2762585 1 SGTA A C exonic synonymous SNV SGTA:NM_003021:exon7:c.T555G:p.A185A RS2302491 HDL cholesterol:Rheumatoid arthritis:Total cholesterol
19 2767192 1 SGTA G T exonic synonymous SNV SGTA:NM_003021:exon4:c.C234A:p.P78P
19 2834808 2 ZNF554 T C exonic synonymous SNV ZNF554:NM_001102651:exon5:c.T1575C:p.C525C RS8102063 Transmission distortion
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 2934282 2 ZNF77 T C exonic synonymous SNV ZNF77:NM_021217:exon4:c.A843G:p.S281S RS3746073 Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
19 2936623 2 ZNF77 C T exonic synonymous SNV ZNF77:NM_021217:exon3:c.G210A:p.E70E
19 3062857 2 AES T C exonic synonymous SNV AES:NM_198969:exon1:c.A69G:p.L23L
19 3119239 1 GNA11 C T exonic synonymous SNV GNA11:NM_002067:exon6:c.C771T:p.T257T RS4900 HDL cholesterol:HOMA-B:HOMA-IR:Triglycerides
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 3624005 1 CACTIN G A exonic nonsynonymous SNV CACTIN:NM_001080543:exon2:c.C323T:p.S108L,CACTIN:NM_021231:exon2:c.C323T:p.S108L RS55862054 Prostate cancer
19 3738649 2 TJP3 A C exonic synonymous SNV TJP3:NM_001267560:exon12:c.A1381C:p.R461R,TJP3:NM_001267561:exon12:c.A1408C:p.R470R
19 3738971 2 TJP3 A G exonic synonymous SNV TJP3:NM_001267560:exon13:c.A1470G:p.P490P,TJP3:NM_001267561:exon13:c.A1497G:p.P499P
19 3740658 2 TJP3 T G exonic synonymous SNV TJP3:NM_001267560:exon14:c.T1740G:p.L580L,TJP3:NM_001267561:exon14:c.T1767G:p.L589L RS10416362 Gene expression of APBA3 (ENSG00000011132) in dendritic cells
19 3750622 1 TJP3 A C exonic synonymous SNV TJP3:NM_001267560:exon21:c.A2700C:p.V900V,TJP3:NM_001267561:exon21:c.A2727C:p.V909V RS1046271 LDL cholesterol:Total cholesterol:Autism with high IQ:Total cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
19 3752874 1 APBA3 A G exonic nonsynonymous SNV APBA3:NM_004886:exon7:c.T1126C:p.C376R RS8102086 Gene expression of TJP3 in liver:Triglycerides:Schizophrenia:Celiac disease:Total cholesterol:Diastolic blood pressure (DBP):Gene expression of MRPL54 [probeset 225797_at] in sputum:Age at death with kuru exposure:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
19 3753874 1 APBA3 G A exonic synonymous SNV APBA3:NM_004886:exon6:c.C900T:p.I300I
19 3977486 2 EEF2 A G exonic synonymous SNV EEF2:NM_001961:exon13:c.T2190C:p.Y730Y RS36527 2 hour glucose:HDL cholesterol:Height:Body mass index (BMI)
19 3979408 2 EEF2 A G exonic synonymous SNV EEF2:NM_001961:exon11:c.T1632C:p.H544H RS36526 2 hour glucose:HDL cholesterol:Height:Body mass index (BMI)
19 4028783 1 PIAS4 C T exonic synonymous SNV PIAS4:NM_015897:exon6:c.C738T:p.T246T RS2289863 Cystatin C in serum:Rheumatoid arthritis:Partial epilepsy:HDL cholesterol:Body mass index (BMI):Gene expression of PIAS4 in blood:Years of education
19 4033462 2 PIAS4 T C exonic synonymous SNV PIAS4:NM_015897:exon9:c.T1026C:p.C342C
19 4180836 2 SIRT6 C T exonic nonsynonymous SNV SIRT6:NM_001193285:exon2:c.G137A:p.S46N,SIRT6:NM_001321059:exon2:c.G137A:p.S46N,SIRT6:NM_001321060:exon2:c.G137A:p.S46N,SIRT6:NM_001321063:exon2:c.G137A:p.S46N,SIRT6:NM_016539:exon2:c.G137A:p.S46N RS352493 HDL cholesterol:Schizophrenia:PROP taste detection threshold:Transmission distortion
19 4352959 1 MPND A G exonic synonymous SNV MPND:NM_001159846:exon4:c.A597G:p.A199A,MPND:NM_001300862:exon4:c.A597G:p.A199A,MPND:NM_032868:exon4:c.A597G:p.A199A
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 4362691 1 SH3GL1 G C exonic synonymous SNV SH3GL1:NM_001199943:exon7:c.C627G:p.P209P,SH3GL1:NM_001199944:exon8:c.C579G:p.P193P,SH3GL1:NM_003025:exon8:c.C771G:p.P257P
19 4442999 1 CHAF1A T G exonic nonsynonymous SNV CHAF1A:NM_005483:exon15:c.T2848G:p.S950A
19 4457650 1 UBXN6 C T exonic synonymous SNV UBXN6:NM_025241:exon1:c.G45A:p.K15K
19 4510560 1 PLIN4 C T exonic nonsynonymous SNV PLIN4:NM_001080400:exon3:c.G3370A:p.A1124T RS7251858 Alzheimer's disease:LDL cholesterol:Total cholesterol:Neuroblastoma (brain cancer):Hypertension (early onset hypertension)
19 4511955 1 PLIN4 T C exonic nonsynonymous SNV PLIN4:NM_001080400:exon3:c.A1975G:p.S659G RS7260518 Suicide attempts in bipolar disorder (substance free)
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 4558431 1 SEMA6B C G exonic synonymous SNV SEMA6B:NM_032108:exon2:c.G39C:p.L13L RS2304213 LDL cholesterol:Obesity with early age of onset (age >2)
19 4695534 1 DPP9 C A exonic nonsynonymous SNV DPP9:NM_139159:exon12:c.G1209T:p.Q403H
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 4844790 1 PLIN3 G C exonic nonsynonymous SNV PLIN3:NM_001164189:exon7:c.C850G:p.Q284E,PLIN3:NM_001164194:exon7:c.C814G:p.Q272E,PLIN3:NM_005817:exon7:c.C850G:p.Q284E
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 4852137 1 PLIN3 C T exonic synonymous SNV PLIN3:NM_001164189:exon5:c.G525A:p.S175S,PLIN3:NM_001164194:exon5:c.G489A:p.S163S,PLIN3:NM_005817:exon5:c.G525A:p.S175S RS1055919 Irritible bowel syndrome:Differential exon level expression of M6PRBP1 [probe 3847016] in peripheral blood mononuclear cells:Total cholesterol:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Adiponectin levels
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 4910924 1 UHRF1 C T exonic unknown UNKNOWN
19 4929413 1 UHRF1 T C exonic unknown UNKNOWN
19 4945914 2 UHRF1 A C exonic unknown UNKNOWN
19 4945917 2 UHRF1 C T exonic unknown UNKNOWN
19 4954454 1 UHRF1 C T exonic unknown UNKNOWN
19 5041178 1 KDM4B T C exonic synonymous SNV KDM4B:NM_015015:exon5:c.T348C:p.D116D RS2240678 Citrate:Tyrosine
19 5135392 2 KDM4B A G exonic nonsynonymous SNV KDM4B:NM_015015:exon15:c.A2128G:p.K710E
19 5210782 1 PTPRS G A exonic synonymous SNV PTPRS:NM_130853:exon25:c.C3928T:p.L1310L,PTPRS:NM_130855:exon26:c.C3940T:p.L1314L,PTPRS:NM_130854:exon29:c.C5155T:p.L1719L,PTPRS:NM_002850:exon34:c.C5269T:p.L1757L
19 5212380 1 PTPRS C T exonic synonymous SNV PTPRS:NM_130853:exon22:c.G3396A:p.P1132P,PTPRS:NM_130855:exon23:c.G3408A:p.P1136P,PTPRS:NM_130854:exon26:c.G4623A:p.P1541P,PTPRS:NM_002850:exon31:c.G4737A:p.P1579P
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 5223018 1 PTPRS G A exonic nonsynonymous SNV PTPRS:NM_130854:exon14:c.C2719T:p.R907C,PTPRS:NM_002850:exon18:c.C2785T:p.R929C
19 5604875 1 SAFB2 T C exonic nonsynonymous SNV SAFB2:NM_014649:exon10:c.A1369G:p.T457A
19 5692068 1 LONP1 G A exonic nonsynonymous SNV LONP1:NM_001276480:exon18:c.C2267T:p.A756V,LONP1:NM_004793:exon18:c.C2855T:p.A952V,LONP1:NM_001276479:exon19:c.C2663T:p.A888V
19 5696146 1 LONP1 G A exonic synonymous SNV LONP1:NM_001276480:exon13:c.C1344T:p.T448T,LONP1:NM_004793:exon13:c.C1932T:p.T644T,LONP1:NM_001276479:exon14:c.C1740T:p.T580T RS3745624 Stabilized warfarin dose:Triglycerides:HOMA-B:Gene expression of RPL36///LONP1 in blood:Gene expression of SAFB (ENSG00000160633) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of C19orf70 (ENSG00000174917) in dendritic cells treated with Mycobacterium tuberculosis
19 5783614 1 PRR22 T A exonic nonsynonymous SNV PRR22:NM_001134316:exon3:c.A644T:p.Q215L
19 5783634 1 PRR22 T C exonic synonymous SNV PRR22:NM_001134316:exon3:c.A624G:p.P208P RS2446210 Gene expression of LOC56931 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Height
19 5789565 1 DUS3L T C exonic nonsynonymous SNV DUS3L:NM_020175:exon3:c.A553G:p.R185G RS2436487 Gene expression of DUS3L [probe 224966_s_at] in lymphoblastoid cell lines:Differential exon level expression of DUS3L [probe 3847446] in peripheral blood mononuclear cells:Gene expression of DUS3L [probe ILMN_3805] in osteoblasts:Fasting blood glucose:Gene expression of DUS3L in CD4+ lymphocytes:Height:Gene expression of DUS3L [probe ILMN_3805] in osteoblasts treated with PGE2:Gene expression of DUS3L in blood
19 5832209 1 FUT6 G A exonic nonsynonymous SNV FUT6:NM_001040701:exon2:c.C370T:p.P124S,FUT6:NM_000150:exon3:c.C370T:p.P124S RS778805 Height:Glycan Peak 14:Desialylated Glycan Peak 7:Desialylated Glycan Peak 9:Plasma carcinoembryonic antigen (CEA) levels:Plasma cancer antigen 19-9 (CA19-9) levels:Obesity with early age of onset (age >2)
19 6415443 2 KHSRP T C exonic synonymous SNV KHSRP:NM_003685:exon18:c.A1914G:p.A638A
19 6415711 1 KHSRP G A exonic synonymous SNV KHSRP:NM_003685:exon17:c.C1722T:p.A574A
19 6468331 1 DENND1C T C exonic nonsynonymous SNV DENND1C:NM_001290331:exon20:c.A1573G:p.M525V,DENND1C:NM_024898:exon22:c.A1705G:p.M569V
19 6677989 2 C3 G A exonic synonymous SNV C3:NM_000064:exon41:c.C4896T:p.P1632P
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 6707846 1 C3 G C exonic nonsynonymous SNV C3:NM_000064:exon15:c.C1940G:p.T647R
19 6709848 1 C3 C T exonic synonymous SNV C3:NM_000064:exon14:c.G1692A:p.V564V RS2230204 Waist hip ratio:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
19 6710782 1 C3 G T exonic synonymous SNV C3:NM_000064:exon13:c.C1554A:p.P518P RS2230203 Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Plasma protein abundance (pQTL) of C3 (CO3,UniProt:P01024,Peptide:LLDGVQNPR):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
19 6713262 1 C3 G A exonic nonsynonymous SNV C3:NM_000064:exon9:c.C941T:p.P314L
19 6714374 1 C3 C T exonic synonymous SNV C3:NM_000064:exon5:c.G588A:p.P196P
19 6718387 1 C3 G C exonic nonsynonymous SNV C3:NM_000064:exon3:c.C304G:p.R102G RS2230199 Age-related macular degeneration:Age-related macular degeneration (neovascular vs Geographic atrophy):Age-related macular degeneration (large drusen):Age-related macular degeneration (geographic atrophy):Age-related macular degeneration (neovascular):Rheumatoid arthritis:Age-related macular degeneration:Age-related macular degeneration:Advanced age-related macular degeneration:Advanced age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Age-related macular degeneration:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization)
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 6763718 1 SH2D3A A G exonic synonymous SNV SH2D3A:NM_005490:exon2:c.T42C:p.P14P RS2305805 Methylation levels at chr19:6717609-6717659 [hg18 coord, probe cg15055101] in Cerebellum:Methylation levels at chr19:6717609-6717659 [hg18 coord, probe cg15055101] in Caudal pons:Methylation levels at chr19:6717609-6717659 [hg18 coord, probe cg15055101] in Frontal cortex:Methylation levels at chr19:6717609-6717659 [hg18 coord, probe cg15055101] in Temporal cortex:Height
19 7166376 1 INSR C T exonic synonymous SNV INSR:NM_000208:exon8:c.G1650A:p.A550A,INSR:NM_001079817:exon8:c.G1650A:p.A550A RS2059806 HOMA-B:Total cholesterol change with statins:LDL cholesterol change with statins:Total cholesterol:LDL cholesterol:Height:Urinary albumin-to-creatinine ratio:Adiponectin levels
19 7528734 2 ARHGEF18 A G exonic nonsynonymous SNV ARHGEF18:NM_001130955:exon12:c.A2102G:p.Q701R,ARHGEF18:NM_015318:exon13:c.A1628G:p.Q543R RS2287918 HOMA-IR:Cystatin C in serum:HDL cholesterol:Diastolic blood pressure (DBP)
19 7533767 2 ARHGEF18 T G exonic synonymous SNV ARHGEF18:NM_001130955:exon17:c.T2973G:p.R991R,ARHGEF18:NM_015318:exon18:c.T2499G:p.R833R
19 7533850 2 ARHGEF18 A G exonic nonsynonymous SNV ARHGEF18:NM_001130955:exon17:c.A3056G:p.N1019S,ARHGEF18:NM_015318:exon18:c.A2582G:p.N861S
19 7584223 1 ZNF358 A G exonic nonsynonymous SNV ZNF358:NM_018083:exon2:c.A95G:p.N32S
19 7747293 1 TRAPPC5 T G exonic nonsynonymous SNV TRAPPC5:NM_001042461:exon2:c.T154G:p.S52A,TRAPPC5:NM_001042462:exon2:c.T154G:p.S52A,TRAPPC5:NM_174894:exon2:c.T154G:p.S52A RS6952 Gene expression of C19orf59 (ENSG00000183019) in dendritic cells treated with Mycobacterium tuberculosis
19 7913974 2 EVI5L T C exonic synonymous SNV EVI5L:NM_001159944:exon3:c.T495C:p.H165H,EVI5L:NM_145245:exon4:c.T495C:p.H165H RS555609 Stabilized warfarin dose:Triglycerides:LDL cholesterol:LDL cholesterol:Alcohol consumption:PROP taste detection threshold:Gene expression of TIMM44 (ENSG00000104980) in dendritic cells:College completion:Gene expression change of TIMM44 (ENSG00000104980) in dendritic cells after treatment with Mycobacterium tuberculosis:Mitral annular calcium:Refractive error:Gene expression of LRRC8E (ENSG00000171017) in dendritic cells treated with Mycobacterium tuberculosis:Years of education
19 7916620 2 EVI5L A G exonic synonymous SNV EVI5L:NM_001159944:exon7:c.A951G:p.A317A,EVI5L:NM_145245:exon8:c.A951G:p.A317A
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 7964616 1 LRRC8E G C exonic synonymous SNV LRRC8E:NM_001268285:exon2:c.G822C:p.T274T,LRRC8E:NM_025061:exon3:c.G1209C:p.T403T,LRRC8E:NM_001268284:exon4:c.G1209C:p.T403T
19 7986638 1 SNAPC2 C G exonic nonsynonymous SNV SNAPC2:NM_003083:exon3:c.C352G:p.L118V
19 8028544 1 ELAVL1 A G exonic synonymous SNV ELAVL1:NM_001419:exon6:c.T804C:p.G268G RS14394 Neuroticism:Triglycerides change with statins:Cystatin C in serum:Gene expression of ZNF71 in peripheral blood monocytes:Birth weight
19 8321946 1 CERS4 T C exonic synonymous SNV CERS4:NM_024552:exon9:c.T726C:p.S242S RS36247 HDL cholesterol:Obesity with early age of onset (age >2)
19 8326904 1 CERS4 G A exonic nonsynonymous SNV CERS4:NM_024552:exon12:c.G1096A:p.A366T RS36259 Sporadic Creutzfeldt-Jakob disease:Primary rhegmatogenous retinal detachment
19 8376431 1 NDUFA7 G A exonic synonymous SNV NDUFA7:NM_005001:exon4:c.C300T:p.P100P RS561 Gene expression of NDUFA7 (probeID ILMN_1675239) in cerebellum in Alzheimer's disease cases:Gene expression of NDUFA7 (probeID ILMN_1675239) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of NDUFA7 (probeID ILMN_1675239) in temporal cortex in Alzheimer's disease cases:Refractive error:Gene expression of NDUFA7 (probeID ILMN_1675239) in cerebellum in non-Alzheimer's disease samples:Gene expression of NDUFA7 (probeID ILMN_1675239) in cerebellum in Alzheimer's disease cases and controls:Gene expression of NDUFA7 (probeID ILMN_1675239) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of NDUFA7 (probeID ILMN_1675239) in temporal cortex in Progressive Supranuclear Palsy cases
19 8436164 1 ANGPTL4 C T exonic nonsynonymous SNV ANGPTL4:NM_001039667:exon5:c.C683T:p.T228M,ANGPTL4:NM_139314:exon6:c.C797T:p.T266M RS1044250 HDL cholesterol:Chronic kidney disease:Partial epilepsy:Triglycerides:HDL cholesterol:Gene expression of MARCH2 (probeID ILMN_1669592) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of MARCH2 (probeID ILMN_1669592) in cerebellum in Alzheimer's disease cases and controls:College completion
19 8468337 1 RAB11B C T exonic synonymous SNV RAB11B:NM_004218:exon5:c.C552T:p.R184R RS2230876 HDL cholesterol:Triglycerides:HDL cholesterol:Gene expression of MARCH2 in normal prepouch ileum:Parkinson's disease
19 8503345 1 2-Mar G C exonic nonsynonymous SNV MARCH2:NM_001005416:exon4:c.G446C:p.R149P,MARCH2:NM_001005415:exon5:c.G656C:p.R219P,MARCH2:NM_016496:exon6:c.G656C:p.R219P
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 8551112 1 HNRNPM G T exonic synonymous SNV HNRNPM:NM_001297418:exon12:c.G1395T:p.L465L,HNRNPM:NM_005968:exon14:c.G1800T:p.L600L,HNRNPM:NM_031203:exon15:c.G1683T:p.L561L RS12977861 Alzheimer's disease (APOE4 negative):HDL cholesterol:HDL cholesterol:Infant head circumference
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 8576670 1 ZNF414 C T exonic synonymous SNV ZNF414:NM_001146175:exon5:c.G705A:p.P235P,ZNF414:NM_032370:exon5:c.G705A:p.P235P
19 8578000 1 ZNF414 G A exonic nonsynonymous SNV ZNF414:NM_001146175:exon2:c.C229T:p.P77S,ZNF414:NM_032370:exon2:c.C229T:p.P77S
19 8578118 1 ZNF414 A G exonic synonymous SNV ZNF414:NM_001146175:exon2:c.T111C:p.P37P,ZNF414:NM_032370:exon2:c.T111C:p.P37P RS1064009 Gene expression change of ZNF414 (ENSG00000133250) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of ZNF414 (ENSG00000133250) in dendritic cells treated with Mycobacterium tuberculosis
19 9524185 2 ZNF266 A G exonic synonymous SNV ZNF266:NM_001271314:exon11:c.T1416C:p.A472A,ZNF266:NM_006631:exon11:c.T1416C:p.A472A RS2241356 Gene expression of ZNF266 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Gene expression of ZNF266 [probe 214686_at] in lymphoblastoid cell lines:2 hour glucose:HOMA-B:Serum creatinine:Chronic kidney disease:Cystatin C in serum:Gene expression of ZNF266 in Cerebellum:Height:Gene expression of ZNF266 in normal prepouch ileum:Gene expression of ZNF266 (probeID ILMN_1753782) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ZNF266 (probeID ILMN_1753782) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ZNF266 (probeID ILMN_2396786) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ZNF266 (probeID ILMN_2396786) in temporal cortex in Alzheimer's disease cases and controls
19 10224526 1 P2RY11;PPAN-P2RY11 C T exonic nonsynonymous SNV PPAN-P2RY11:NM_001198690:exon13:c.C1559T:p.P520L
19 10224548 1 P2RY11;PPAN-P2RY11 G A exonic nonsynonymous SNV P2RY11:NM_002566:exon2:c.G259A:p.A87T,PPAN-P2RY11:NM_001040664:exon13:c.G1519A:p.A507T RS3745601 Methylation levels at chr19:10077676-10077726 [hg18 coord, probe cg12819826] in Frontal cortex:Comorbid depressive syndrome and alcohol dependence
19 10226256 1 EIF3G A G exonic synonymous SNV EIF3G:NM_003755:exon10:c.T846C:p.F282F RS7710 Refractive error
19 10265312 2 DNMT1 T C exonic synonymous SNV DNMT1:NM_001318730:exon20:c.A1734G:p.T578T,DNMT1:NM_001379:exon20:c.A1734G:p.T578T,DNMT1:NM_001130823:exon21:c.A1782G:p.T594T,DNMT1:NM_001318731:exon21:c.A1419G:p.T473T RS721186 Total cholesterol
19 10273372 1 DNMT1 T C exonic nonsynonymous SNV DNMT1:NM_001318730:exon12:c.A931G:p.I311V,DNMT1:NM_001379:exon12:c.A931G:p.I311V,DNMT1:NM_001130823:exon13:c.A979G:p.I327V,DNMT1:NM_001318731:exon13:c.A616G:p.I206V RS2228612 Refractive error
19 10291181 1 DNMT1 T C exonic nonsynonymous SNV DNMT1:NM_001130823:exon4:c.A290G:p.H97R,DNMT1:NM_001318730:exon4:c.A290G:p.H97R,DNMT1:NM_001379:exon4:c.A290G:p.H97R
19 10449392 2 ICAM3 A G exonic synonymous SNV ICAM3:NM_001320605:exon2:c.T309C:p.S103S,ICAM3:NM_001320606:exon2:c.T78C:p.S26S,ICAM3:NM_002162:exon2:c.T309C:p.S103S RS2304240 Rheumatoid arthritis:Longstanding arthritis:Triglycerides:HDL cholesterol:Gene expression of ICAM3 in peripheral blood monocytes:Microalbuminuria:Gene expression of RAVER1///ICAM3 in blood:PROP taste detection threshold:Systemic lupus erythematosus (SLE):Familial hypercholesterolemia:Familial hypercholesterolemia (LDL receptor mutation present):Gene expression change of MRPL4 (ENSG00000105364) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of CDC37 (ENSG00000105401) in dendritic cells treated with Mycobacterium tuberculosis
19 10475652 1 TYK2 C A exonic nonsynonymous SNV TYK2:NM_003331:exon8:c.G1084T:p.V362F RS2304256 Type 1 diabetes:Gene expression of TYK2 in peripheral blood monocytes:Selective immunoglobulin A deficiency (IgAD):Soluble intercellular adhesion molecule 1 (ICAM-1):Type 1 diabetes:Primary biliary cirrhosis
19 10668452 1 KRI1 A G exonic synonymous SNV KRI1:NM_023008:exon15:c.T1497C:p.F499F RS3745255 Gene expression of KRI1 [probe 218798_at] in lymphoblastoid cell lines:Longstanding arthritis:Rheumatoid arthritis:Height:Gene expression of SLC44A2 in blood:Variant Creutzfeldt-Jakob disease:Gene expression of ATG4D (ENSG00000130734) in dendritic cells treated with Mycobacterium tuberculosis:Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression change of ATG4D (ENSG00000130734) in dendritic cells after treatment with Mycobacterium tuberculosis:Advanced age-related macular degeneration
19 10679240 1 CDKN2D C G exonic synonymous SNV CDKN2D:NM_001800:exon1:c.G90C:p.R30R,CDKN2D:NM_079421:exon2:c.G90C:p.R30R
19 11039724 1 TIMM29 C G exonic synonymous SNV TIMM29:NM_138358:exon2:c.C129G:p.A43A
19 11224265 1 LDLR A G exonic synonymous SNV LDLR:NM_001195800:exon8:c.A909G:p.R303R,LDLR:NM_001195799:exon9:c.A1290G:p.R430R,LDLR:NM_001195803:exon9:c.A1032G:p.R344R,LDLR:NM_000527:exon10:c.A1413G:p.R471R,LDLR:NM_001195798:exon10:c.A1413G:p.R471R RS5930 Differential splicing of LDLR [probeset 3821042] in lymphoblastoid cell lines:LDL cholesterol:Schizophrenia:LDL cholesterol:Total cholesterol:HDL cholesterol:Total cholesterol:LDL cholesterol:Comorbid depressive syndrome and alcohol dependence:Age at death with kuru exposure:Variant Creutzfeldt-Jakob disease:LDL cholesterol:College completion:Total cholesterol:Coronary artery disease (CAD):Advanced age-related macular degeneration:LDL cholesterol response after 40mg daily simvastatin treatment:Hypertension (early onset hypertension)
19 11230881 1 LDLR T C exonic synonymous SNV LDLR:NM_001195800:exon11:c.T1455C:p.V485V,LDLR:NM_001195799:exon12:c.T1836C:p.V612V,LDLR:NM_001195803:exon12:c.T1578C:p.V526V,LDLR:NM_000527:exon13:c.T1959C:p.V653V,LDLR:NM_001195798:exon13:c.T1959C:p.V653V RS5925 LDL cholesterol change with statins:Gene expression of CCDC121 in peripheral blood monocytes:LDL cholesterol:Total cholesterol:Urinary albumin-to-creatinine ratio:Microalbuminuria:LDL cholesterol: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 11326119 1 DOCK6 A G exonic synonymous SNV DOCK6:NM_020812:exon32:c.T4050C:p.N1350N RS2304155 LDL cholesterol:Rheumatoid arthritis:Total cholesterol:LDL cholesterol:HDL cholesterol:Diastolic blood pressure (DBP):Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
19 11326125 1 DOCK6 C T exonic synonymous SNV DOCK6:NM_020812:exon32:c.G4044A:p.P1348P RS2304154 Total cholesterol:LDL cholesterol:Body mass index (BMI):Advanced age-related macular degeneration (geographic atrophy):Advanced age-related macular degeneration
19 11327626 1 DOCK6 A G exonic synonymous SNV DOCK6:NM_020812:exon30:c.T3858C:p.D1286D RS4804152 LDL cholesterol:Differential exon level expression of DOCK6 [probe 3850754] in brain cortex:Serum creatinine:Total cholesterol:LDL cholesterol:Diastolic blood pressure (DBP):Advanced age-related macular degeneration (geographic atrophy)
19 11465316 1 CCDC159 G C exonic nonsynonymous SNV CCDC159:NM_001080503:exon10:c.G833C:p.C278S RS6887 Adiponectin levels
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 12059699 1 ZNF700 T G exonic nonsynonymous SNV ZNF700:NM_001271848:exon4:c.T869G:p.F290C,ZNF700:NM_144566:exon4:c.T860G:p.F287C
19 12059838 1 ZNF700 G A exonic synonymous SNV ZNF700:NM_001271848:exon4:c.G1008A:p.P336P,ZNF700:NM_144566:exon4:c.G999A:p.P333P
19 12222381 2 ZNF788 C G exonic nonsynonymous SNV ZNF788:NM_001348164:exon2:c.C19G:p.R7G,ZNF788:NM_001348165:exon3:c.C19G:p.R7G,ZNF788:NM_001348163:exon4:c.C19G:p.R7G RS1866382 Rheumatoid arthritis:Waist hip ratio:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Infant head circumference:Advanced age-related macular degeneration
19 12502787 1 ZNF799 G A exonic nonsynonymous SNV ZNF799:NM_001080821:exon4:c.C425T:p.T142M,ZNF799:NM_001322497:exon4:c.C329T:p.T110M,ZNF799:NM_001322498:exon5:c.C329T:p.T110M
19 12541532 1 ZNF443 C A exonic nonsynonymous SNV ZNF443:NM_005815:exon4:c.G1454T:p.C485F
19 12541547 1 ZNF443 T G exonic nonsynonymous SNV ZNF443:NM_005815:exon4:c.A1439C:p.K480T
19 12760200 1 MAN2B1 G A exonic synonymous SNV MAN2B1:NM_000528:exon19:c.C2310T:p.P770P,MAN2B1:NM_001173498:exon19:c.C2307T:p.P769P
19 12772165 1 MAN2B1 G A exonic nonsynonymous SNV MAN2B1:NM_000528:exon7:c.C935T:p.T312I,MAN2B1:NM_001173498:exon7:c.C935T:p.T312I RS1054487 Abnormal Involuntary Movement Scale:Alzheimer's disease:Gene expression of MAN2B1 in blood:Gene expression of PRDX2 in blood:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of DHPS (ENSG00000095059) in dendritic cells:Gene expression change of DHPS (ENSG00000095059) in dendritic cells after treatment with Mycobacterium tuberculosis
19 12786449 1 WDR83 G A exonic nonsynonymous SNV WDR83:NM_032332:exon9:c.G911A:p.R304Q,WDR83:NM_001099737:exon11:c.G911A:p.R304Q
19 12817497 1 TNPO2 G C exonic synonymous SNV TNPO2:NM_001136196:exon13:c.C1383G:p.R461R,TNPO2:NM_013433:exon13:c.C1383G:p.R461R,TNPO2:NM_001136195:exon14:c.C1383G:p.R461R
19 12989560 1 DNASE2 G A exonic synonymous SNV DNASE2:NM_001375:exon4:c.C435T:p.S145S RS2293682 Irritible bowel syndrome:Arthritis including non-Rheumatoid:LDL cholesterol:Gene expression of C19orf56 in blood:Gene expression of PRDX2 in blood:Gene expression of MAST1///DNASE2 in blood:Gene expression of GCDH in blood:Mitral annular calcium:Aortic valve calcium
19 13010520 2 GCDH A G exonic nonsynonymous SNV GCDH:NM_013976:exon12:c.A1250G:p.Q417R RS8012 Rheumatoid arthritis:Gene expression of GCDH in blood cells in Celiac disease:Gene expression of GCDH [probe ILMN_9055] in osteoblasts treated with dexamethasone:Gene expression of GCDH [probe ILMN_9055] in osteoblasts treated with PGE2:Gene expression of MAST1 [transcript NM_014975, probe A_23_P101480] in liver:Gene expression of MAST1///DNASE2 in blood:Gene expression of PRDX2 in blood:Gene expression of GCDH in blood:Resistance to kuru in aged women despite likely exposure:Gene expression of GCDH (probeID ILMN_2296843) in cerebellum in Alzheimer's disease cases and controls:Gene expression of GCDH (probeID ILMN_1797482) in cerebellum in Alzheimer's disease cases:Gene expression of GCDH (probeID ILMN_2296843) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GCDH (probeID ILMN_2296843) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of GCDH (probeID ILMN_1797482) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of GCDH (probeID ILMN_1797482) in cerebellum in non-Alzheimer's disease samples:Gene expression of GCDH (probeID ILMN_2296843) in cerebellum in Alzheimer's disease cases:Gene expression of GCDH (probeID ILMN_2296843) in temporal cortex in Alzheimer's disease cases:Gene expression of GCDH (probeID ILMN_1797482) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of GCDH (probeID ILMN_1797482) in cerebellum in Alzheimer's disease cases and controls:Gene expression of GCDH (probeID ILMN_2296843) in cerebellum in non-Alzheimer's disease samples:Gene expression of GCDH (probeID ILMN_2296843) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of GCDH (probeID ILMN_1797482) in temporal cortex in Alzheimer's disease cases
19 13035522 1 FARSA C A exonic nonsynonymous SNV FARSA:NM_004461:exon10:c.G1126T:p.V376L
19 13054615 1 CALR A C exonic nonsynonymous SNV CALR:NM_004343:exon9:c.A1142C:p.E381A
19 14038791 1 CC2D1A C T exonic nonsynonymous SNV CC2D1A:NM_017721:exon23:c.C2402T:p.T801M RS2305777 Schizophrenia:Fasting blood glucose:Birth weight
19 14165278 2 PALM3 G A exonic synonymous SNV PALM3:NM_001145028:exon6:c.C1161T:p.G387G
19 14200109 1 SAMD1 T C exonic synonymous SNV SAMD1:NM_138352:exon3:c.A702G:p.E234E
19 14231325 1 ASF1B C G exonic synonymous SNV ASF1B:NM_018154:exon4:c.G555C:p.G185G
19 14231330 1 ASF1B A G exonic synonymous SNV ASF1B:NM_018154:exon4:c.T550C:p.L184L
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 14574959 1 PKN1 G A exonic synonymous SNV PKN1:NM_002741:exon12:c.G1725A:p.S575S,PKN1:NM_213560:exon12:c.G1743A:p.S581S RS2230538 LDL cholesterol:Total cholesterol:Waist hip ratio:Refractive error:Mitral annular calcium
19 14629150 1 DNAJB1 G A exonic synonymous SNV DNAJB1:NM_006145:exon1:c.C12T:p.D4D RS3962158 Years of education
19 14829749 1 ZNF333 C T exonic nonsynonymous SNV ZNF333:NM_032433:exon12:c.C1610T:p.A537V RS3764626 Gene expression of ZNF333 [probe 3822875] in peripheral blood mononuclear cells:Gene expression of CASP14 in T cells:Alzheimer's disease:HOMA-IR:Fasting insulin:Gene expression of EMR2 in peripheral blood monocytes:Gene expression of ZNF333 in peripheral blood monocytes:Gene expression of EMR3 in peripheral blood monocytes:Gene expression of ZNF333 [probe ILMN_1170] in osteoblasts treated with dexamethasone:Gene expression of ZNF333 in blood:Gene expression of EMR3 in blood:Gene expression of EMR2 in blood:Sporadic Creutzfeldt-Jakob disease:Gene expression of ZNF333 (probeID ILMN_2209299) in cerebellum in Alzheimer's disease cases:Gene expression of ZNF333 (probeID ILMN_2209299) in breast tumors:Gene expression of ZNF333 (probeID ILMN_2209299) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ZNF333 (probeID ILMN_2209299) in temporal cortex in Alzheimer's disease cases:Gene expression of ZNF333 (probeID ILMN_2209299) in cerebellum in non-Alzheimer's disease samples:Gene expression of ZNF333 (probeID ILMN_2209299) in temporal cortex in Alzheimer's disease cases and controls:College completion
19 15226970 1 ILVBL G A exonic synonymous SNV ILVBL:NM_006844:exon12:c.C1464T:p.L488L RS2074262 HDL cholesterol:Triglycerides:Chronic kidney disease:Aortic valve calcium
19 15227030 1 ILVBL G A exonic synonymous SNV ILVBL:NM_006844:exon12:c.C1404T:p.G468G
19 15229993 1 ILVBL A G exonic synonymous SNV ILVBL:NM_006844:exon9:c.T1035C:p.D345D
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 15784377 1 CYP4F12 C T exonic nonsynonymous SNV CYP4F12:NM_023944:exon2:c.C38T:p.P13L RS16995376 LDL cholesterol:LDL cholesterol
19 15784386 2 CYP4F12 C T exonic nonsynonymous SNV CYP4F12:NM_023944:exon2:c.C47T:p.T16M
19 15789098 2 CYP4F12 A G exonic nonsynonymous SNV CYP4F12:NM_023944:exon3:c.A226G:p.N76D RS609636 Gene expression of CYP4F12 in normal prepouch ileum
19 15789140 2 CYP4F12 A G exonic nonsynonymous SNV CYP4F12:NM_023944:exon3:c.A268G:p.I90V
19 15807830 1 CYP4F12 T C exonic synonymous SNV CYP4F12:NM_023944:exon13:c.T1510C:p.L504L RS593421 LDL cholesterol:Urinary albumin-to-creatinine ratio:Microalbuminuria
19 15807884 2 CYP4F12 A G exonic nonsynonymous SNV CYP4F12:NM_023944:exon13:c.A1564G:p.S522G RS593818 Gene expression of CYP4F12 in blood cells in Celiac disease:Barnes Akathisia Rating Scale:Tardive dyskinesia:Gene expression of OR10H1 [probe ILMN_19170] in osteoblasts treated with BMP2:Gene expression of OR10H1 [probe ILMN_19170] in osteoblasts treated with bmp:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression of CYP4F12 in blood
19 15996820 1 CYP4F2 G A exonic synonymous SNV CYP4F2:NM_001082:exon9:c.C1029T:p.H343H
19 16040292 1 CYP4F11 A G exonic synonymous SNV CYP4F11:NM_021187:exon2:c.T318C:p.I106I,CYP4F11:NM_001128932:exon3:c.T318C:p.I106I RS3765070 Total cholesterol change with statins:Rheumatoid arthritis:Gene expression of CYP4F11 in normal prepouch ileum
19 16238279 1 RAB8A C T exonic synonymous SNV RAB8A:NM_005370:exon5:c.C357T:p.L119L RS1043308 Gene expression of AP1M1 (ENSG00000072958) in dendritic cells treated with Mycobacterium tuberculosis
19 16633950 2 CHERP T C exonic synonymous SNV CHERP:NM_006387:exon11:c.A1893G:p.P631P RS1043481 Fasting blood glucose:LDL cholesterol
19 16666101 1 SLC35E1 G C exonic synonymous SNV SLC35E1:NM_024881:exon5:c.C864G:p.P288P RS2287869 Fasting blood glucose:Birth weight
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 17160720 1 HAUS8 G A exonic nonsynonymous SNV HAUS8:NM_001011699:exon11:c.C1193T:p.P398L,HAUS8:NM_033417:exon11:c.C1196T:p.P399L
19 17163661 1 HAUS8 C T exonic synonymous SNV HAUS8:NM_001011699:exon10:c.G900A:p.T300T,HAUS8:NM_033417:exon10:c.G903A:p.T301T RS2305758 Crohn's disease, combined control dataset:Major depressive disorder:Gene expression of NY-SAR-48 in peripheral blood monocytes:Urinary albumin-to-creatinine ratio:Gene expression of AC020908.7 in blood:Diastolic blood pressure (DBP):Comorbid depressive syndrome and alcohol dependence:Bipolar disorder:Age at death with kuru exposure:Birth weight:Tetrology of fallot:Advanced age-related macular degeneration (geographic atrophy)
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 17303774 1 MYO9B T G exonic nonsynonymous SNV MYO9B:NM_001130065:exon21:c.T3031G:p.S1011A,MYO9B:NM_004145:exon21:c.T3031G:p.S1011A RS1545620 Differential exon level expression of MYO9B [probe 3824053] in peripheral blood mononuclear cells:Height:Urinary albumin-to-creatinine ratio:Gene expression of OCEL1 in blood:Gene expression of USE1 [probeset 219348_at] in sputum:Age at death with kuru exposure
19 17305440 1 MYO9B T C exonic synonymous SNV MYO9B:NM_001130065:exon22:c.T3204C:p.G1068G,MYO9B:NM_004145:exon22:c.T3204C:p.G1068G RS1064305 Differential exon level expression of MYO9B [probe 3824053] in peripheral blood mononuclear cells:Gene expression of MYO9B [probe 3823982] in peripheral blood mononuclear cells:Height:Neuroblastoma (brain cancer):Urinary albumin-to-creatinine ratio:Gene expression of OCEL1 in blood:Gene expression of USE1 [probeset 221706_s_at] in sputum:Gene expression of USE1 [probeset 219348_at] in sputum:Age at death with kuru exposure
19 17306031 1 MYO9B T C exonic synonymous SNV MYO9B:NM_001130065:exon22:c.T3795C:p.P1265P,MYO9B:NM_004145:exon22:c.T3795C:p.P1265P RS2279003 Triglycerides:Microalbuminuria:Obesity with early age of onset (age >2)
19 17312992 1 MYO9B C T exonic synonymous SNV MYO9B:NM_001130065:exon28:c.C4716T:p.V1572V,MYO9B:NM_004145:exon28:c.C4716T:p.V1572V RS2305765 LDL cholesterol:HDL cholesterol:Obesity with early age of onset (age >2):Adiponectin levels
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 17337555 1 OCEL1 C A exonic synonymous SNV OCEL1:NM_024578:exon2:c.C123A:p.T41T
19 17337871 1 OCEL1 A G exonic synonymous SNV OCEL1:NM_024578:exon3:c.A315G:p.G105G RS891204 Gene expression of NR2F6 [probe 209262_s_at] in lymphoblastoid cell lines:HOMA-IR:Fasting insulin:Mitral annular calcium
19 17337882 1 OCEL1 C G exonic nonsynonymous SNV OCEL1:NM_024578:exon3:c.C326G:p.A109G RS891203 Gene expression of NR2F6 [probe 209262_s_at] in lymphoblastoid cell lines:Fasting insulin:HOMA-IR:Lp-PLA2 mass:Mitral annular calcium
19 17351535 1 NR2F6 G A exonic synonymous SNV NR2F6:NM_005234:exon2:c.C318T:p.N106N RS2288539 Gene expression of NR2F6 in CHB-JPT lymphoblastoid cell lines:Gene expression of NR2F6 [probe 209262_s_at] in lymphoblastoid cell lines:Gene expression of NR2F6 in CD4+ lymphocytes:Mitral annular calcium
19 17389704 1 BABAM1 G A exonic synonymous SNV BABAM1:NM_001288757:exon6:c.G612A:p.K204K,BABAM1:NM_001033549:exon9:c.G837A:p.K279K,BABAM1:NM_001288756:exon9:c.G837A:p.K279K,BABAM1:NM_014173:exon9:c.G837A:p.K279K RS8170 HDL cholesterol:Gene expression of OCEL1 in CD4+ lymphocytes:Breast cancer risk (in BRCA1 mutation carriers):Breast cancer (Estrogen receptor positive breast cancer):Breast cancer risk (Estrogen receptor, progesterone receptor and HER2 negative):Breast cancer risk (Estrogen receptor or progesterone receptor positive):Breast cancer (Estrogen receptor negative breast cancer):Breast cancer risk (Progesterone receptor negative):Breast cancer risk (Estrogen receptor or progesterone receptor negative):Breast cancer risk (Excluding breast cancer cases diagnosed with breast cancer more than 5 years prior to study recruitment):Breast cancer risk (BRCA1 Class 2 mutations only):Breast cancer risk (BRCA1 Class 1 mutations only):Breast cancer risk (Excluding BRCA1 mutation carriers who developed ovarian cancer):Epithelial ovarian cancer (serous cases):Epithelial ovarian cancer:Epithelial ovarian cancer survival (serous cases):Epithelial ovarian cancer survival:Microalbuminuria:Gene expression of DDA1 in blood:Gene expression of MRPL34 in blood:Gene expression of GTPBP3 in blood:Gene expression of OCEL1 in blood:Breast cancer:Breast cancer (Estrogen receptor negative breast cancer):College completion:Years of education:Breast cancer (BRCA1-carriers):Birth weight:Breast cancer (Estrogen receptor negative breast cancer)
19 17412366 1 ABHD8 G A exonic synonymous SNV ABHD8:NM_024527:exon2:c.C60T:p.A20A
19 17412399 1 ABHD8 G A exonic synonymous SNV ABHD8:NM_024527:exon2:c.C27T:p.I9I RS11086067 LDL cholesterol:Total cholesterol:Lp-PLA2 mass:Gene expression of ANKRD41 in peripheral blood monocytes:Gene expression of OCEL1 in peripheral blood monocytes:Gene expression of MRPL34 in peripheral blood monocytes:HDL cholesterol:Microalbuminuria
19 17435887 1 ANO8 C T exonic synonymous SNV ANO8:NM_020959:exon17:c.G2970A:p.S990S
19 17438642 2 ANO8 A G exonic synonymous SNV ANO8:NM_020959:exon14:c.T2274C:p.V758V RS8102944 Chronic kidney disease
19 17448961 2 GTPBP3 A C exonic synonymous SNV GTPBP3:NM_001128855:exon2:c.A198C:p.T66T,GTPBP3:NM_001195422:exon2:c.A264C:p.T88T,GTPBP3:NM_032620:exon2:c.A198C:p.T66T,GTPBP3:NM_133644:exon2:c.A198C:p.T66T RS1864112 Chronic kidney disease:HDL cholesterol:Triglycerides
19 17450016 2 GTPBP3 T C exonic nonsynonymous SNV GTPBP3:NM_133644:exon5:c.T845C:p.V282A,GTPBP3:NM_001128855:exon6:c.T749C:p.V250A,GTPBP3:NM_001195422:exon6:c.T815C:p.V272A,GTPBP3:NM_032620:exon6:c.T749C:p.V250A RS3810206 Gene expression of DDA1 in normal prepouch ileum
19 17628587 1 PGLS A G exonic synonymous SNV PGLS:NM_012088:exon4:c.A567G:p.T189T
19 17666636 1 COLGALT1 C T exonic synonymous SNV COLGALT1:NM_024656:exon1:c.C114T:p.F38F
19 17837981 1 MAP1S A G exonic synonymous SNV MAP1S:NM_001308363:exon5:c.A1710G:p.A570A,MAP1S:NM_018174:exon5:c.A1788G:p.A596A
19 17922795 2 B3GNT3 G A exonic nonsynonymous SNV B3GNT3:NM_014256:exon3:c.G983A:p.R328H RS36686 Eye color:Simpson-Angus Scale:Partial epilepsy:Gene expression of JAK3 [probeset 211109_at] in sputum:Infant head circumference:Refractive error
19 18047283 1 CCDC124 T G exonic synonymous SNV CCDC124:NM_001136203:exon2:c.T54G:p.R18R,CCDC124:NM_138442:exon2:c.T54G:p.R18R RS4808722 Gene expression of CCDC124 in blood:Gene expression of IL12RB1 in blood:Parkinson's disease:Advanced age-related macular degeneration (geographic atrophy):College completion
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 18279692 1 PIK3R2 C A exonic stopgain PIK3R2:NM_005027:exon15:c.C1965A:p.Y655X
19 18288004 1 IFI30 A G exonic nonsynonymous SNV IFI30:NM_006332:exon5:c.A538G:p.M180V
19 18288069 2 IFI30 A G exonic synonymous SNV IFI30:NM_006332:exon5:c.A603G:p.P201P RS7125 Irritible bowel syndrome:Rheumatoid arthritis:Gene expression of IL12RB1 in blood:Gene expression of MAST3 in blood:Gene expression of AC116021.5///ENST00000316350 in blood:Obesity (body mass index (BMI)):Body mass index (BMI):Obesity with early age of onset (age >2):Gene expression of IFI30 (ENSG00000216490) in dendritic cells
19 18480609 1 PGPEP1 C T exonic synonymous SNV PGPEP1:NM_001329471:exon5:c.C531T:p.P177P RS7226 Irritible bowel syndrome:Triglycerides:Gene expression of LRRC25///PGPEP1 in blood:Gene expression of ELL///PGPEP1 in blood:PROP taste detection threshold:Tetrology of fallot
19 18497024 2 GDF15 G C exonic nonsynonymous SNV GDF15:NM_004864:exon1:c.G25C:p.V9L RS1059519 PROP taste detection threshold:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
19 18497141 1 GDF15 T A exonic nonsynonymous SNV GDF15:NM_004864:exon1:c.T142A:p.S48T RS1059369 College completion
19 18499238 1 GDF15 G T exonic synonymous SNV GDF15:NM_004864:exon2:c.G420T:p.P140P RS1804826 Triglycerides:PROP taste detection threshold
19 18499422 1 GDF15 C G exonic nonsynonymous SNV GDF15:NM_004864:exon2:c.C604G:p.H202D
19 18538742 1 SSBP4 A C exonic synonymous SNV SSBP4:NM_001009998:exon4:c.A229C:p.R77R,SSBP4:NM_032627:exon4:c.A229C:p.R77R RS10405636 2 hour glucose:LDL cholesterol:Total cholesterol:LDL cholesterol:Height:Urinary albumin-to-creatinine ratio:Years of education
19 18545786 1 ISYNA1 G T exonic synonymous SNV ISYNA1:NM_001253389:exon8:c.C1230A:p.T410T,ISYNA1:NM_001170938:exon10:c.C1452A:p.T484T,ISYNA1:NM_016368:exon11:c.C1614A:p.T538T
19 18546678 1 ISYNA1 T C exonic synonymous SNV ISYNA1:NM_001253389:exon5:c.A645G:p.L215L,ISYNA1:NM_001170938:exon7:c.A867G:p.L289L,ISYNA1:NM_016368:exon8:c.A1029G:p.L343L RS2303697 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
19 19011244 1 COPE T C exonic synonymous SNV COPE:NM_199442:exon7:c.A597G:p.P199P,COPE:NM_199444:exon7:c.A594G:p.P198P,COPE:NM_007263:exon8:c.A750G:p.P250P,COPE:NM_001330469:exon9:c.A819G:p.P273P RS1127821 Neuroblastoma (brain cancer):Adiponectin levels:Gene expression of DDX49 (ENSG00000105671) in dendritic cells treated with Mycobacterium tuberculosis
19 19040312 2 HOMER3 G C exonic nonsynonymous SNV HOMER3:NM_001145724:exon8:c.C918G:p.S306R,HOMER3:NM_001145721:exon10:c.C1017G:p.S339R,HOMER3:NM_001145722:exon10:c.C1026G:p.S342R,HOMER3:NM_004838:exon10:c.C1026G:p.S342R
19 19049194 1 HOMER3 G A exonic synonymous SNV HOMER3:NM_001145724:exon3:c.C271T:p.L91L,HOMER3:NM_001145721:exon4:c.C271T:p.L91L,HOMER3:NM_001145722:exon4:c.C271T:p.L91L,HOMER3:NM_004838:exon4:c.C271T:p.L91L
19 19105259 1 SUGP2 G A exonic synonymous SNV SUGP2:NM_001017392:exon10:c.C3165T:p.D1055D,SUGP2:NM_001321697:exon10:c.C3165T:p.D1055D,SUGP2:NM_001321698:exon10:c.C3207T:p.D1069D,SUGP2:NM_001321699:exon10:c.C3207T:p.D1069D,SUGP2:NM_014884:exon10:c.C3165T:p.D1055D RS4808897 Comorbid depressive syndrome and alcohol dependence:Multiple myeloma:Gene expression of SUGP2 in normal prepouch ileum
19 19136541 1 SUGP2 C T exonic nonsynonymous SNV SUGP2:NM_001017392:exon3:c.G616A:p.G206S,SUGP2:NM_001321697:exon3:c.G616A:p.G206S,SUGP2:NM_001321698:exon3:c.G658A:p.G220S,SUGP2:NM_001321699:exon3:c.G658A:p.G220S,SUGP2:NM_014884:exon3:c.G616A:p.G206S RS4808907 HDL cholesterol change with statins:Gene expression of SFRS14 in blood:Birth weight
19 19212658 1 SLC25A42 G A exonic synonymous SNV SLC25A42:NM_001321544:exon3:c.G150A:p.A50A,SLC25A42:NM_178526:exon3:c.G150A:p.A50A
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 19449686 1 MAU2 G T exonic synonymous SNV MAU2:NM_015329:exon5:c.G489T:p.S163S RS2074090 Fasting blood glucose:Rheumatoid arthritis:LDL cholesterol:Triglycerides:Total cholesterol:Body mass index (BMI):Mitral annular calcium
19 19606634 1 GATAD2A G A exonic synonymous SNV GATAD2A:NM_001300946:exon5:c.G696A:p.S232S,GATAD2A:NM_017660:exon6:c.G696A:p.S232S
19 20002439 1 ZNF253 G T exonic nonsynonymous SNV ZNF253:NM_001331134:exon2:c.G155T:p.G52V,ZNF253:NM_001331133:exon3:c.G191T:p.G64V,ZNF253:NM_021047:exon4:c.G383T:p.G128V
19 20003109 1 ZNF253 A G exonic synonymous SNV ZNF253:NM_001331134:exon2:c.A825G:p.L275L,ZNF253:NM_001331133:exon3:c.A861G:p.L287L,ZNF253:NM_021047:exon4:c.A1053G:p.L351L
19 23545250 1 ZNF91 A G exonic synonymous SNV ZNF91:NM_001300951:exon3:c.T435C:p.T145T,ZNF91:NM_003430:exon4:c.T531C:p.T177T RS1044095 HOMA-B:Advanced age-related macular degeneration (geographic atrophy):Gemcitabine-induced neutropenia/leukopenia in cancer patients:Advanced age-related macular degeneration
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 30193653 1 C19orf12 T G exonic nonsynonymous SNV C19orf12:NM_001282929:exon2:c.A200C:p.K67T,C19orf12:NM_001282930:exon2:c.A200C:p.K67T,C19orf12:NM_001031726:exon3:c.A425C:p.K142T,C19orf12:NM_001256047:exon3:c.A392C:p.K131T,C19orf12:NM_031448:exon3:c.A392C:p.K131T,C19orf12:NM_001282931:exon4:c.A200C:p.K67T
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 32930069 2 DPY19L3 G A exonic synonymous SNV DPY19L3:NM_001172774:exon7:c.G648A:p.A216A,DPY19L3:NM_207325:exon7:c.G648A:p.A216A RS6510249 HDL cholesterol:HDL cholesterol:Triglycerides:Comorbid depressive syndrome and alcohol dependence:Refractive error
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 33117666 1 ANKRD27 T C exonic synonymous SNV ANKRD27:NM_032139:exon16:c.A1488G:p.G496G RS6510271 LDL cholesterol:HDL cholesterol:LDL cholesterol:Suicide attempts in bipolar disorder (males):Lysine/valine ratio
19 33370161 1 CEP89 A C exonic synonymous SNV CEP89:NM_032816:exon19:c.T2259G:p.V753V RS745959 HDL cholesterol:Lysine/valine ratio:Adiponectin levels:Obesity with early age of onset (age >2)
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 33498978 1 RHPN2 A G exonic synonymous SNV RHPN2:NM_033103:exon7:c.T702C:p.C234C RS2163807 Fasting insulin:HOMA-IR
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 33696708 1 LRP3 T C exonic synonymous SNV LRP3:NM_002333:exon5:c.T1032C:p.T344T
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 33698018 1 LRP3 C T exonic nonsynonymous SNV LRP3:NM_002333:exon7:c.C1850T:p.A617V
19 33698291 2 LRP3 T C exonic nonsynonymous SNV LRP3:NM_002333:exon7:c.T2123C:p.V708A RS3745974 Autism with verbal ability:Autism
19 33793146 1 CEBPA C G exonic nonsynonymous SNV CEBPA:NM_001287424:exon1:c.G280C:p.E94Q,CEBPA:NM_001287435:exon1:c.G133C:p.E45Q,CEBPA:NM_004364:exon1:c.G175C:p.E59Q
19 33882222 1 PEPD G A exonic synonymous SNV PEPD:NM_001166056:exon11:c.C1008T:p.H336H,PEPD:NM_001166057:exon11:c.C939T:p.H313H,PEPD:NM_000285:exon13:c.C1131T:p.H377H RS17569 HDL cholesterol:Waist hip ratio:Obesity with early age of onset (age >2):Adiponectin levels
19 34843761 1 KIAA0355 C A exonic synonymous SNV KIAA0355:NM_014686:exon14:c.C3114A:p.P1038P
19 34959979 2 UBA2 A G exonic synonymous SNV UBA2:NM_005499:exon17:c.A1776G:p.S592S RS7259160 Autism:Adiponectin levels
19 34973476 2 WTIP G A exonic synonymous SNV WTIP:NM_001080436:exon1:c.G597A:p.E199E
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 35741456 1 LSR T C exonic synonymous SNV LSR:NM_001260489:exon2:c.T492C:p.V164V,LSR:NM_001260490:exon2:c.T492C:p.V164V,LSR:NM_015925:exon2:c.T492C:p.V164V,LSR:NM_205834:exon2:c.T492C:p.V164V,LSR:NM_205835:exon2:c.T492C:p.V164V RS2073900 Schizophrenia:Asthma:Gene expression of HPN in blood:Gene expression of FXYD5 in blood:Salmonella-induced pyroptosis:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Primary rhegmatogenous retinal detachment:Adiponectin levels
19 35757427 1 LSR G A exonic nonsynonymous SNV LSR:NM_001260490:exon3:c.G764A:p.S255N,LSR:NM_205835:exon4:c.G884A:p.S295N,LSR:NM_001260489:exon5:c.G1031A:p.S344N,LSR:NM_015925:exon5:c.G1031A:p.S344N,LSR:NM_205834:exon6:c.G1088A:p.S363N
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 36497358 2 SYNE4 C G exonic nonsynonymous SNV SYNE4:NM_001297735:exon3:c.G495C:p.Q165H,SYNE4:NM_001039876:exon5:c.G834C:p.Q278H
19 36583651 2 WDR62 G A exonic synonymous SNV WDR62:NM_001083961:exon19:c.G2271A:p.L757L,WDR62:NM_173636:exon19:c.G2271A:p.L757L
19 36590329 2 WDR62 T C exonic nonsynonymous SNV WDR62:NM_001083961:exon22:c.T2549C:p.L850S,WDR62:NM_173636:exon22:c.T2549C:p.L850S RS2285745 Spine bone mineral density (BMD):Gene expression of POLR2I in blood:Gene expression of ALKBH6///CLIP3 in blood:Gene expression of CAPNS1///COX7A1 in blood:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
19 36594659 2 WDR62 A T exonic nonsynonymous SNV WDR62:NM_001083961:exon30:c.A3929T:p.Q1310L,WDR62:NM_173636:exon30:c.A3914T:p.Q1305L RS2074435 Lung function, predicted ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC):College completion
19 36594853 2 WDR62 G A exonic nonsynonymous SNV WDR62:NM_001083961:exon30:c.G4123A:p.G1375S,WDR62:NM_173636:exon30:c.G4108A:p.G1370S
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 36727365 1 ZNF146 G A exonic nonsynonymous SNV ZNF146:NM_001099638:exon3:c.G23A:p.R8K,ZNF146:NM_001099639:exon3:c.G23A:p.R8K,ZNF146:NM_007145:exon4:c.G23A:p.R8K RS2070132 Differential exon level expression of ZNF146 [probe 3831276] in peripheral blood mononuclear cells:Differential exon level expression of ZNF146 [probe 3831276] in brain cortex:Total cholesterol:LDL cholesterol:Rheumatoid arthritis:Methylation levels at chr19:41411052-41411102 [hg18 coord, probe cg02358804] in Frontal cortex:Gene expression of ZNF545 in peripheral blood monocytes:Gene expression of ZFP14 in peripheral blood monocytes:Waist hip ratio:Gene expression of [probe 2600301 centered at chr19:41360499] in blood:Gene expression of ZNF565 in blood:Gene expression of ZFP82 in blood:Gene expression of ZNF146 in blood:Gene expression of ZFP14 in blood:Comorbid depressive syndrome and alcohol dependence:Gene expression change of ZNF146 (ENSG00000167635) in dendritic cells after treatment with Mycobacterium tuberculosis:Hypertension (early onset hypertension)
19 37038092 2 ZNF529 T C exonic synonymous SNV ZNF529:NM_001145650:exon5:c.A1314G:p.G438G,ZNF529:NM_020951:exon5:c.A1368G:p.G456G,ZNF529:NM_001145649:exon6:c.A1368G:p.G456G,ZNF529:NM_001321351:exon6:c.A1053G:p.G351G RS2278168 Gene expression of ZFP14 in peripheral blood monocytes:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
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 38189440 2 ZNF607 T C exonic nonsynonymous SNV ZNF607:NM_001172677:exon5:c.A1589G:p.K530R,ZNF607:NM_032689:exon5:c.A1592G:p.K531R RS958305 2 hour glucose:LDL cholesterol change with statins:Total cholesterol change with statins:Triglycerides:Paclitaxel sensitivity in NCI60 cancer cell lines:Primary rhegmatogenous retinal detachment
19 38189616 2 ZNF607 T C exonic synonymous SNV ZNF607:NM_001172677:exon5:c.A1413G:p.T471T,ZNF607:NM_032689:exon5:c.A1416G:p.T472T
19 38696847 1 SIPA1L3 G A exonic synonymous SNV SIPA1L3:NM_015073:exon22:c.G5313A:p.A1771A
19 38861333 2 CATSPERG G A exonic synonymous SNV CATSPERG:NM_001330496:exon28:c.G3261A:p.P1087P,CATSPERG:NM_021185:exon29:c.G3381A:p.P1127P RS1052375 Gene expression of C19orf33 in normal prepouch ileum:Salmonella-induced pyroptosis:Acute lung injury following major trauma
19 38899459 1 FAM98C G C exonic nonsynonymous SNV FAM98C:NM_001351675:exon6:c.G741C:p.W247C,FAM98C:NM_174905:exon8:c.G987C:p.W329C
19 39196745 2 ACTN4 C T exonic synonymous SNV ACTN4:NM_001322033:exon5:c.C546T:p.N182N,ACTN4:NM_004924:exon5:c.C546T:p.N182N RS3745859 HDL cholesterol:Triglycerides:Bipolar disorder:Adiponectin levels:Birth weight
19 39322087 2 ECH1 T G exonic nonsynonymous SNV ECH1:NM_001398:exon2:c.A122C:p.E41A RS9419 Serum creatinine:Methylation levels at chr19:44014948-44014998 [hg18 coord, probe cg00204262] in Caudal pons:Salmonella-induced pyroptosis:Years of education:Parkinson's disease:Birth weight
19 39329205 1 HNRNPL C T exonic synonymous SNV HNRNPL:NM_001005335:exon10:c.G990A:p.Q330Q,HNRNPL:NM_001533:exon10:c.G1389A:p.Q463Q
19 39360597 1 RINL C T exonic nonsynonymous SNV RINL:NM_001195833:exon9:c.G1328A:p.R443Q,RINL:NM_198445:exon9:c.G986A:p.R329Q
19 39360720 1 RINL G A exonic nonsynonymous SNV RINL:NM_001195833:exon9:c.C1205T:p.P402L,RINL:NM_198445:exon9:c.C863T:p.P288L
19 39433299 1 FBXO17 A G exonic synonymous SNV FBXO17:NM_024907:exon6:c.T786C:p.Y262Y,FBXO17:NM_148169:exon6:c.T813C:p.Y271Y RS8113389 Gene expression of SARS2 in CEU lymphoblastoid cell lines:Triglycerides:Urinary albumin-to-creatinine ratio:Gene expression of SARS2 in normal prepouch ileum
19 39914748 1 PLEKHG2 G A exonic nonsynonymous SNV PLEKHG2:NM_001351693:exon19:c.G2798A:p.R933K,PLEKHG2:NM_022835:exon19:c.G2975A:p.R992K RS31726 Gene expression of RPS16 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Differential exon level expression of SUPT5H [probe 3833046] in peripheral blood mononuclear cells:Differential exon level expression of SUPT5H [probe 3833046] in brain cortex:2 hour glucose:LDL cholesterol change with statins:Total cholesterol change with statins:Rheumatoid arthritis:Gene expression of SUPT5H in blood:Gene expression of EID2B in blood:Gene expression of CCM2 in blood:Hypertension (early onset hypertension):Aortic valve calcium:Maternal transmission distortion
19 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 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 39955533 1 SUPT5H G A exonic synonymous SNV SUPT5H:NM_001130825:exon10:c.G708A:p.E236E,SUPT5H:NM_001319991:exon10:c.G708A:p.E236E,SUPT5H:NM_003169:exon10:c.G720A:p.E240E,SUPT5H:NM_001111020:exon11:c.G720A:p.E240E,SUPT5H:NM_001130824:exon11:c.G720A:p.E240E,SUPT5H:NM_001319990:exon11:c.G720A:p.E240E RS2304217 Differential exon level expression of RPS16 [probe 3862031] in peripheral blood mononuclear cells:Age at death with kuru exposure:Gene expression of RPS16 in normal prepouch ileum:Aortic valve calcium
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 40357683 1 FCGBP T G exonic synonymous SNV FCGBP:NM_003890:exon34:c.A15630C:p.A5210A RS759120 Triglycerides change with statins
19 40360928 1 FCGBP G A exonic synonymous SNV FCGBP:NM_003890:exon33:c.C15480T:p.R5160R RS1053686 Microalbuminuria:Birth weight
19 40368395 2 FCGBP C T exonic nonsynonymous SNV FCGBP:NM_003890:exon28:c.G12953A:p.R4318H
19 40478362 1 PSMC4 T C exonic synonymous SNV PSMC4:NM_006503:exon3:c.T222C:p.H74H
19 40480501 1 PSMC4 C T exonic synonymous SNV PSMC4:NM_006503:exon5:c.C540T:p.A180A,PSMC4:NM_153001:exon5:c.C447T:p.A149A
19 40720079 1 MAP3K10 C T exonic synonymous SNV MAP3K10:NM_002446:exon9:c.C2493T:p.D831D
19 40929363 2 SERTAD1 T C exonic nonsynonymous SNV SERTAD1:NM_013376:exon2:c.A91G:p.T31A RS268687 HOMA-IR:Fasting insulin
19 41082868 1 SHKBP1 T C exonic synonymous SNV SHKBP1:NM_138392:exon1:c.T63C:p.I21I RS16974365 Gene expression of LTBP4 in liver
19 41096189 1 SHKBP1 A G exonic synonymous SNV SHKBP1:NM_138392:exon16:c.A1629G:p.T543T
19 41209689 1 COQ8B G A exonic synonymous SNV COQ8B:NM_001142555:exon7:c.C525T:p.A175A,COQ8B:NM_024876:exon8:c.C648T:p.A216A RS4803357 Triglycerides:HDL cholesterol
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 41700493 2 CYP2S1 G C exonic synonymous SNV CYP2S1:NM_030622:exon2:c.G222C:p.P74P RS338599 HDL cholesterol change with statins:PROP taste detection threshold
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 41858921 2 TGFB1 G A exonic nonsynonymous SNV TGFB1:NM_000660:exon1:c.C29T:p.P10L
19 41869392 2 B9D2 T C exonic nonsynonymous SNV B9D2:NM_030578:exon2:c.A33G:p.I11M RS2241714 Stabilized warfarin dose:Rheumatoid arthritis:Abnormal Involuntary Movement Scale:Tardive dyskinesia:Cystatin C in serum:Gene expression of TMEM91 in peripheral blood monocytes:Gene expression of B3GNT8 in peripheral blood monocytes:Gene expression of B9D2 in peripheral blood monocytes:Total cholesterol:Asthma:Gene expression of TMEM91 in blood:Coronary artery disease (CAD):Advanced age-related macular degeneration:Gene expression of BCKDHA in normal prepouch ileum:Tetrology of fallot:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Coronary artery disease (CAD)
19 41903220 2 EXOSC5 G A exonic nonsynonymous SNV EXOSC5:NM_020158:exon1:c.C14T:p.T5M RS10853751 Eye color:Stabilized warfarin dose:Differential exon level expression of TMEM91 [probe 3834195] in peripheral blood mononuclear cells:2 hour glucose:Fasting insulin:HOMA-B:HOMA-IR:Chronic kidney disease:Height:Gene expression of EXOSC5 [transcript NM_020158, probe A_24_P211151] in liver:Gene expression of BCKDHA///B3GNT8 in blood:Gene expression of BCKDHA///ATP5SL in blood:Gene expression of TMEM91 in blood:Advanced age-related macular degeneration:Gene expression of BCKDHA in normal prepouch ileum:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
19 41928652 2 BCKDHA C T exonic synonymous SNV BCKDHA:NM_000709:exon7:c.C972T:p.F324F,BCKDHA:NM_001164783:exon7:c.C969T:p.F323F RS284652 Gene expression of BCKDHA in normal prepouch ileum
19 41930396 2 BCKDHA A G exonic synonymous SNV BCKDHA:NM_000709:exon9:c.A1221G:p.L407L,BCKDHA:NM_001164783:exon9:c.A1218G:p.L406L RS4674 2 hour glucose:Fasting insulin:HOMA-B:Chronic kidney disease:Height:Advanced age-related macular degeneration:Coronary artery disease (CAD):Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of BCKDHA in normal prepouch ileum
19 41932084 2 B3GNT8 G T exonic synonymous SNV B3GNT8:NM_198540:exon3:c.C600A:p.A200A RS284660 HOMA-B:Fasting insulin:Chronic kidney disease:Height:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
19 41932120 2 B3GNT8 C T exonic synonymous SNV B3GNT8:NM_198540:exon3:c.G564A:p.V188V RS284661 HOMA-B:Fasting insulin:Height:Gene expression of B3GNT8 (ENSG00000177191) in dendritic cells:Gene expression of BCKDHA in normal prepouch ileum:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration
19 42736267 2 GSK3A A G exonic synonymous SNV GSK3A:NM_019884:exon10:c.T1320C:p.L440L
19 42799049 1 CIC C T exonic synonymous SNV CIC:NM_015125:exon20:c.C4533T:p.I1511I,CIC:NM_001304815:exon21:c.C7260T:p.I2420I RS1052023 Barnes Akathisia Rating Scale
19 44047826 2 XRCC1 T A exonic nonsynonymous SNV XRCC1:NM_006297:exon16:c.A1726T:p.N576Y
19 44057227 2 XRCC1 T C exonic synonymous SNV XRCC1:NM_006297:exon7:c.A618G:p.P206P
19 44351836 2 ZNF283 G A exonic synonymous SNV ZNF283:NM_001297752:exon6:c.G666A:p.Q222Q,ZNF283:NM_181845:exon7:c.G1083A:p.Q361Q RS957569 Gene expression of ZNF283 in CEU-CHB-JPT lymphoblastoid cell lines:Triglycerides:HOMA-IR:Fasting insulin:HOMA-B:Rheumatoid arthritis
19 44352665 2 ZNF283 T C exonic nonsynonymous SNV ZNF283:NM_001297752:exon6:c.T1495C:p.C499R,ZNF283:NM_181845:exon7:c.T1912C:p.C638R RS2356437 Gene expression of ZNF283 in CEU-CHB-JPT lymphoblastoid cell lines:Arthritis including non-Rheumatoid:Triglycerides:HOMA-IR:Fasting insulin:HOMA-B:Rheumatoid arthritis:Bipolar disorder:Age at death with kuru exposure
19 44377357 2 ZNF404 C T exonic nonsynonymous SNV ZNF404:NM_001033719:exon2:c.G1000A:p.G334S
19 44417575 2 ZNF45 A G exonic synonymous SNV ZNF45:NM_003425:exon10:c.T2013C:p.F671F RS417699 Hypertension:Gene expression of FLJ30469 in brain cortex:Gene expression of FLJ30469 probe [GI_32698975-S] in brain cortex with no Alzheimer's interaction:Methylation levels at chr19:49122726-49122776 [hg18 coord, probe cg00185103] in Frontal cortex:Methylation levels at chr19:49122726-49122776 [hg18 coord, probe cg00185103] in Temporal cortex:Gene expression of KCNN4 in peripheral blood monocytes:Gene expression of UHRF1 in peripheral blood monocytes:Gene expression of ZNF404 (probeID ILMN_1682227) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ZNF404 (probeID ILMN_1682227) in temporal cortex in Alzheimer's disease cases and controls:Maternal transmission distortion:Birth weight
19 44418824 2 ZNF45 C T exonic nonsynonymous SNV ZNF45:NM_003425:exon10:c.G764A:p.R255K RS399098 Differential exon level expression of ZNF45 [probe 3864727] in peripheral blood mononuclear cells:Differential exon level expression of ZNF45 [probe 3864727] in brain cortex:Total cholesterol:Methylation levels at chr19:49122726-49122776 [hg18 coord, probe cg00185103] in Frontal cortex:Methylation levels at chr19:49122726-49122776 [hg18 coord, probe cg00185103] in Temporal cortex:Neuroblastoma (brain cancer):Gene expression of KCNN4 in blood:Hypertension (early onset hypertension):Gene expression of ZNF404 (probeID ILMN_1682227) in temporal cortex in Alzheimer's disease cases and controls:Birth weight:Gene expression of ZNF404 (probeID ILMN_1682227) in cerebellum in Alzheimer's disease cases and controls
19 44419030 2 ZNF45 A G exonic synonymous SNV ZNF45:NM_003425:exon10:c.T558C:p.H186H
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 44570393 2 ZNF223 C A exonic nonsynonymous SNV ZNF223:NM_013361:exon5:c.C412A:p.L138I RS6509138 Triglycerides:Triglycerides change with statins:Sporadic Creutzfeldt-Jakob disease:Gene expression of ZNF223 in normal prepouch ileum:Breast cancer
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 44981883 2 ZNF180 C G exonic nonsynonymous SNV ZNF180:NM_001278508:exon4:c.G740C:p.C247S,ZNF180:NM_001278509:exon5:c.G734C:p.C245S,ZNF180:NM_001288759:exon5:c.G812C:p.C271S,ZNF180:NM_001291633:exon5:c.G734C:p.C245S,ZNF180:NM_013256:exon5:c.G815C:p.C272S RS1897820 Lp-PLA2 activity:Lp-PLA2 mass
19 44983567 2 ZNF180 C G exonic nonsynonymous SNV ZNF180:NM_001278508:exon3:c.G192C:p.W64C,ZNF180:NM_001278509:exon4:c.G186C:p.W62C,ZNF180:NM_001288759:exon4:c.G264C:p.W88C,ZNF180:NM_001291633:exon4:c.G186C:p.W62C,ZNF180:NM_013256:exon4:c.G267C:p.W89C
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 45262848 1 BCL3 C A exonic synonymous SNV BCL3:NM_005178:exon9:c.C1341A:p.P447P
19 45281265 1 CBLC A G exonic nonsynonymous SNV CBLC:NM_001130852:exon1:c.A77G:p.Q26R,CBLC:NM_012116:exon1:c.A77G:p.Q26R
19 45296832 1 CBLC A G exonic synonymous SNV CBLC:NM_001130852:exon7:c.A1101G:p.S367S,CBLC:NM_012116:exon8:c.A1239G:p.S413S
19 45297479 1 CBLC C T exonic nonsynonymous SNV CBLC:NM_001130852:exon8:c.C1165T:p.P389S,CBLC:NM_012116:exon9:c.C1303T:p.P435S
19 45312432 1 BCAM G A exonic synonymous SNV BCAM:NM_001013257:exon1:c.G51A:p.L17L,BCAM:NM_005581:exon1:c.G51A:p.L17L
19 45322891 1 BCAM C T exonic synonymous SNV BCAM:NM_001013257:exon13:c.C1671T:p.S557S,BCAM:NM_005581:exon13:c.C1671T:p.S557S
19 45322962 1 BCAM A T exonic nonsynonymous SNV BCAM:NM_001013257:exon13:c.A1742T:p.Q581L,BCAM:NM_005581:exon13:c.A1742T:p.Q581L
19 45375238 1 NECTIN2 G A exonic nonsynonymous SNV NECTIN2:NM_001042724:exon3:c.G607A:p.E203K,NECTIN2:NM_002856:exon3:c.G607A:p.E203K
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 45490636 2 CLPTM1 T C exonic synonymous SNV CLPTM1:NM_001282175:exon8:c.T951C:p.G317G,CLPTM1:NM_001282176:exon8:c.T687C:p.G229G,CLPTM1:NM_001294:exon8:c.T993C:p.G331G RS204468 HDL cholesterol:HOMA-B:HDL cholesterol:Triglycerides:Total cholesterol:HDL cholesterol:Height:Gene expression of RELB (ENSG00000104856) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of ZNF296 (ENSG00000170684) in dendritic cells treated with Mycobacterium tuberculosis
19 45561063 2 CLASRP A G exonic nonsynonymous SNV CLASRP:NM_001278439:exon6:c.A334G:p.K112E,CLASRP:NM_007056:exon7:c.A520G:p.K174E
19 45801018 1 MARK4 T C exonic synonymous SNV MARK4:NM_001199867:exon15:c.T1683C:p.R561R,MARK4:NM_031417:exon15:c.T1683C:p.R561R
19 45810035 1 CKM A G exonic synonymous SNV CKM:NM_001824:exon8:c.T1119C:p.I373I RS4884 Fasting blood glucose:Gene expression of CKM in peripheral blood monocytes:LDL cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Mitral annular calcium:Aortic valve calcium
19 45854919 1 ERCC2 T G exonic nonsynonymous SNV ERCC2:NM_000400:exon23:c.A2251C:p.K751Q RS13181 LDL cholesterol:Total cholesterol:Gene expression of VASP in blood:Gene expression of KLC3///ERCC2 in blood:Gene expression of ERCC2 in blood:Systolic blood pressure (SBP):DNA repair capacity in cultured peripheral lymphocytes (BPDE-damage host-cell reactivation testing) in lung cancer cases and controls (never smokers):Acute lung injury following major trauma:DNA repair capacity in cultured peripheral lymphocytes (BPDE-damage host-cell reactivation testing) in lung cancer cases and controls:DNA repair capacity in cultured peripheral lymphocytes (BPDE-damage host-cell reactivation testing) in lung cancer cases and controls (ever smokers):DNA repair capacity in cultured peripheral lymphocytes (BPDE-damage host-cell reactivation testing) in controls
19 45912002 1 CD3EAP A C exonic nonsynonymous SNV CD3EAP:NM_001297590:exon3:c.A782C:p.K261T,CD3EAP:NM_012099:exon3:c.A776C:p.K259T RS735482 Gene expression of ERCC1 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Longstanding arthritis:Chronic kidney disease:Gene expression of CD3EAP///ERCC1 in blood:Gene expression of VASP in blood:Gene expression of ERCC1 in blood:Bipolar disorder:Resistance to kuru in aged women despite likely exposure:Salmonella-induced pyroptosis
19 45912343 1 CD3EAP A G exonic nonsynonymous SNV CD3EAP:NM_001297590:exon3:c.A1123G:p.K375E,CD3EAP:NM_012099:exon3:c.A1117G:p.K373E RS762562 Chronic kidney disease:Serum creatinine:Cystatin C in serum:Salmonella-induced pyroptosis
19 45912406 1 CD3EAP G A exonic nonsynonymous SNV CD3EAP:NM_001297590:exon3:c.G1186A:p.D396N,CD3EAP:NM_012099:exon3:c.G1180A:p.D394N RS2336219 Gene expression of ERCC1 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Longstanding arthritis:Chronic kidney disease:Gene expression of ERCC1 in peripheral blood monocytes:Gene expression of ERCC1 in blood:Gene expression of CD3EAP///ERCC1 in blood:Gene expression of VASP in blood:Bipolar disorder:Resistance to kuru in aged women despite likely exposure:Primary rhegmatogenous retinal detachment:Salmonella-induced pyroptosis
19 45923653 1 ERCC1 A G exonic synonymous SNV ERCC1:NM_202001:exon3:c.T354C:p.N118N,ERCC1:NM_001166049:exon4:c.T354C:p.N118N,ERCC1:NM_001983:exon4:c.T354C:p.N118N RS11615 Cystatin C in serum:LDL cholesterol:Plasma aldosterone concentration:Body mass index (BMI):Neuroblastoma (brain cancer):Non-Hodgkin lymphoma (Diffuse large B-cell lymphoma):Gene expression of FOSB in blood:Gene expression of VASP in blood:Resistance to kuru in aged women despite likely exposure:Hypertension (early onset hypertension):Primary rhegmatogenous retinal detachment
19 46057081 1 OPA3 A G exonic synonymous SNV OPA3:NM_025136:exon2:c.T231C:p.A77A
19 46133251 2 EML2 C T exonic synonymous SNV EML2:NM_012155:exon7:c.G564A:p.S188S,EML2:NM_001193268:exon10:c.G1167A:p.S389S,EML2:NM_001193269:exon10:c.G1005A:p.S335S
19 46133256 2 EML2 G A exonic nonsynonymous SNV EML2:NM_012155:exon7:c.C559T:p.L187F,EML2:NM_001193268:exon10:c.C1162T:p.L388F,EML2:NM_001193269:exon10:c.C1000T:p.L334F RS7252175 Hip bone mineral density (BMD):Differential exon level expression of EML2 [probe 3865538] in brain cortex:Total cholesterol:Gene expression of FOXA3 in blood:Gene expression of SNRPD2 in blood:Gene expression of hsa-miR-330-3p in gluteal adipose:Sporadic Creutzfeldt-Jakob disease
19 46141845 2 EML2 T C exonic nonsynonymous SNV EML2:NM_012155:exon3:c.A97G:p.M33V,EML2:NM_001193268:exon6:c.A700G:p.M234V,EML2:NM_001193269:exon6:c.A538G:p.M180V RS12151009 Differential exon level expression of EML2 [probe 3865538] in brain cortex:Total cholesterol:Gene expression of SNRPD2 in blood:Gene expression of FOXA3 in blood:Sporadic Creutzfeldt-Jakob disease:Years of education
19 46206262 1 QPCTL G A exonic synonymous SNV QPCTL:NM_001163377:exon6:c.G822A:p.L274L,QPCTL:NM_017659:exon7:c.G1104A:p.L368L
19 46216642 1 FBXO46 G T exonic nonsynonymous SNV FBXO46:NM_001080469:exon2:c.C112A:p.P38T,FBXO46:NM_001329632:exon2:c.C112A:p.P38T,FBXO46:NM_001329633:exon2:c.C112A:p.P38T,FBXO46:NM_001329634:exon2:c.C112A:p.P38T
19 46268902 2 SIX5 C T exonic nonsynonymous SNV SIX5:NM_175875:exon3:c.G2077A:p.V693M RS2341097 Gene expression of SYMPK in CEU lymphoblastoid cell lines:Fasting blood glucose:Serum creatinine:Methylation levels at chr19:50977274-50977324 [hg18 coord, probe cg20908204] in Cerebellum:Height:Diastolic blood pressure (DBP):Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Coronary artery disease (CAD)
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 46289503 2 DMWD C T exonic synonymous SNV DMWD:NM_004943:exon3:c.G1251A:p.P417P RS8109951 Fasting blood glucose:Serum creatinine:Methylation levels at chr19:50977274-50977324 [hg18 coord, probe cg20908204] in Cerebellum:Gene expression of SIX5 in CD4+ lymphocytes:Height:Diastolic blood pressure (DBP):Coronary artery disease (CAD):Endometriosis:Advanced age-related macular degeneration:Type 2 diabetes:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
19 46319415 1 SYMPK G C exonic synonymous SNV SYMPK:NM_004819:exon26:c.C3381G:p.A1127A
19 46387344 1 IRF2BP1 G A exonic synonymous SNV IRF2BP1:NM_015649:exon1:c.C1689T:p.F563F RS11550348 PROP taste detection threshold
19 46387503 1 IRF2BP1 T C exonic synonymous SNV IRF2BP1:NM_015649:exon1:c.A1530G:p.L510L RS3745926 Total cholesterol:Urinary albumin-to-creatinine ratio:Microalbuminuria
19 46404579 1 MYPOP A G exonic synonymous SNV MYPOP:NM_001012643:exon2:c.T453C:p.P151P
19 46520026 2 CCDC61 A G exonic nonsynonymous SNV CCDC61:NM_001267723:exon10:c.A1166G:p.Q389R RS2287306 LDL cholesterol:Total cholesterol:HDL cholesterol:LDL cholesterol
19 47177913 2 PRKD2 A G exonic nonsynonymous SNV PRKD2:NM_001079882:exon17:c.T2033C:p.V678A,PRKD2:NM_016457:exon18:c.T2504C:p.V835A,PRKD2:NM_001079880:exon19:c.T2504C:p.V835A,PRKD2:NM_001079881:exon19:c.T2504C:p.V835A
19 47223949 1 STRN4 G A exonic synonymous SNV STRN4:NM_001039877:exon17:c.C2193T:p.H731H,STRN4:NM_013403:exon17:c.C2172T:p.H724H RS313841 Gene expression of FKRP (ENSG00000181027) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of STRN4 (ENSG00000090372) in dendritic cells:Gene expression of FKRP (ENSG00000181027) in dendritic cells:Gene expression of STRN4 (ENSG00000090372) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of PRKD2 (ENSG00000105287) in dendritic cells
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 47548678 2 NPAS1 G A exonic synonymous SNV NPAS1:NM_002517:exon12:c.G1542A:p.A514A
19 47549454 2 TMEM160 C T exonic nonsynonymous SNV TMEM160:NM_017854:exon3:c.G358A:p.G120S
19 47823484 2 C5AR1 T C exonic unknown UNKNOWN
19 47878858 1 DHX34 C T exonic nonsynonymous SNV DHX34:NM_014681:exon10:c.C2200T:p.R734C
19 47883086 1 DHX34 T G exonic synonymous SNV DHX34:NM_014681:exon14:c.T2826G:p.A942A
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 48389425 2 SULT2A1 A G exonic synonymous SNV SULT2A1:NM_003167:exon1:c.T90C:p.F30F
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 48715153 2 CARD8 T C exonic synonymous SNV CARD8:NM_001184900:exon11:c.A1428G:p.Q476Q,CARD8:NM_001184901:exon11:c.A1278G:p.Q426Q,CARD8:NM_014959:exon12:c.A1278G:p.Q426Q RS3745718 Blood glucose - glucose tolerance test:Gene expression of CARD8 in CEU lymphoblastoid cell lines:Gene expression of CARD8 [probe 204950_at] in lymphoblastoid cell lines:Triglycerides change with statins:Gene expression of CARD8 in Cerebellum:Gene expression of AHCY in peripheral blood monocytes:Gene expression of CARD8 in peripheral blood monocytes:Gene expression of PLA2G4C in peripheral blood monocytes:Gene expression of SULT1B1 in peripheral blood monocytes:Gene expression of CARD8 (probeID ILMN_1654376) in whole blood:Gene expression of CARD8 (probeID ILMN_2192281) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of CARD8 (probeID ILMN_2192281) in cerebellum in Alzheimer's disease cases and controls
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 48973705 1 CYTH2 G C exonic nonsynonymous SNV CYTH2:NM_004228:exon2:c.G115C:p.E39Q,CYTH2:NM_017457:exon2:c.G115C:p.E39Q
19 49206417 2 FUT2 A G exonic synonymous SNV FUT2:NM_000511:exon2:c.A204G:p.A68A,FUT2:NM_001097638:exon2:c.A204G:p.A68A RS492602 Vitamin B12 (female):LDL cholesterol:Cystatin C in serum:Chronic kidney disease:Serum creatinine:Crohn's disease:Triglycerides:Total cholesterol:LDL cholesterol:Body mass index (BMI):Psoriasis:FUT2 gene expression in psoriasis lesional skin:FUT2 gene expression in normal skin:FUT2 gene expression in psoriasis uninvolved skin:Psoriasis:Plasma vitamin B12:Urinary albumin-to-creatinine ratio:Gene expression of AC008888.7 in blood:Gene expression of CA11 in blood:Gene expression of CLDN10 in blood:Serum ratio of (ADpSGEGDFXAEGGGVR)/(DSGEGDFXAEGGGVR):Gene expression of FAM83E (probeID ILMN_1658301) in cerebellum in Alzheimer's disease cases:Birth weight:Advanced age-related macular degeneration:College completion:Gene expression of FAM83E (probeID ILMN_1658301) in cerebellum in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Obesity with early age of onset (age >2):Total cholesterol:Gene expression of FUT2 in normal prepouch ileum:Fasting plasma vitamin B12 (pmol/L) in children:Years of education:Infant head circumference:Adiponectin levels
19 49206462 2 FUT2 C T exonic synonymous SNV FUT2:NM_000511:exon2:c.C249T:p.Y83Y,FUT2:NM_001097638:exon2:c.C249T:p.Y83Y RS681343 LDL cholesterol:Chronic kidney disease:Cystatin C in serum:Serum creatinine:Triglycerides:LDL cholesterol:Total cholesterol:Body mass index (BMI):Urinary albumin-to-creatinine ratio:Gene expression of FUT2 in normal prepouch ileum:Obesity with early age of onset (age >2):Years of education:Advanced age-related macular degeneration:Fasting plasma vitamin B12 (pmol/L) in children:Adiponectin levels:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Infant head circumference:Birth weight:College completion
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 49218111 2 MAMSTR G T exonic synonymous SNV MAMSTR:NM_001297753:exon4:c.C171A:p.P57P,MAMSTR:NM_182574:exon4:c.C171A:p.P57P,MAMSTR:NM_001130915:exon6:c.C480A:p.P160P
19 49218602 2 MAMSTR C T exonic synonymous SNV MAMSTR:NM_001297753:exon3:c.G33A:p.A11A,MAMSTR:NM_182574:exon3:c.G33A:p.A11A,MAMSTR:NM_001130915:exon5:c.G342A:p.A114A
19 49469087 1 FTL T C exonic synonymous SNV FTL:NM_000146:exon2:c.T163C:p.L55L RS2230267 Microalbuminuria:Urinary albumin-to-creatinine ratio
19 49485548 1 GYS1 G A exonic synonymous SNV GYS1:NM_001161587:exon6:c.C834T:p.F278F,GYS1:NM_002103:exon7:c.C1026T:p.F342F RS5464 Simpson-Angus Scale:HOMA-B:HOMA-IR:Triglycerides:Urinary albumin-to-creatinine ratio:Acute lung injury following major trauma
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 49621964 2 C19orf73 T C exonic nonsynonymous SNV C19orf73:NM_018111:exon1:c.A316G:p.S106G RS2232003 Schizophrenia:Serum creatinine:Chronic kidney disease:Gene expression of C19orf73 [transcript NM_018111, probe A_23_P153524] in liver:Gene expression of PPP1R15A [transcript NM_014330, probe A_23_P90172] in liver:Gene expression of CGB7 (ENSG00000196337) in dendritic cells:Hypertension (early onset hypertension):Advanced age-related macular degeneration (geographic atrophy):Obsessive-compulsive disorder (OCD):Gene expression of PPFIA3 in normal prepouch ileum
19 49658209 1 HRC A C exonic nonsynonymous SNV HRC:NM_002152:exon1:c.T286G:p.S96A RS3745297 LDL cholesterol change with statins:Height:Gene expression of TRPM4 in blood:Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
19 49658367 1 HRC C T exonic nonsynonymous SNV HRC:NM_002152:exon1:c.G128A:p.S43N RS3745298 Gene expression of TRPM4 in blood:Comorbid depressive syndrome and alcohol dependence:Advanced age-related macular degeneration (geographic atrophy):Gene expression of KCNA7 (ENSG00000104848) in dendritic cells treated with Mycobacterium tuberculosis:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression change of KCNA7 (ENSG00000104848) in dendritic cells after treatment with Mycobacterium tuberculosis
19 49658390 1 HRC T C exonic synonymous SNV HRC:NM_002152:exon1:c.A105G:p.L35L RS3745299 Gene expression of HRC [transcript NM_002152, probe A_23_P142125] in liver:Comorbid depressive syndrome and alcohol dependence:Gene expression of CGB7 (ENSG00000196337) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of TRPM4 in normal prepouch ileum:Gene expression change of PPFIA3 (ENSG00000177380) in dendritic cells after treatment with Mycobacterium tuberculosis
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 50140092 2 RRAS G A exonic synonymous SNV RRAS:NM_006270:exon3:c.C333T:p.N111N RS1865077 Differential exon level expression of RRAS [probe 3867971] in peripheral blood mononuclear cells:Premature ovarian failure:Simpson-Angus Scale:HOMA-B:Microalbuminuria:Gene expression of IRF3 in blood:Gene expression of NOSIP in blood:Paternal transmission distortion:Transmission distortion
19 50154904 2 SCAF1 A C exonic nonsynonymous SNV SCAF1:NM_021228:exon7:c.A1258C:p.T420P
19 50156896 2 SCAF1 T C exonic synonymous SNV SCAF1:NM_021228:exon7:c.T3250C:p.L1084L
19 50161091 1 SCAF1 A G exonic nonsynonymous SNV SCAF1:NM_021228:exon10:c.A3692G:p.K1231R
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 50383636 1 TBC1D17 T C exonic nonsynonymous SNV TBC1D17:NM_001168222:exon3:c.T197C:p.L66P,TBC1D17:NM_024682:exon4:c.T296C:p.L99P RS3745486 Autism
19 50411742 2 NUP62 A G exonic synonymous SNV NUP62:NM_001193357:exon2:c.T1323C:p.D441D,NUP62:NM_012346:exon2:c.T1323C:p.D441D,NUP62:NM_153718:exon2:c.T1323C:p.D441D,NUP62:NM_016553:exon3:c.T1323C:p.D441D,NUP62:NM_153719:exon3:c.T1323C:p.D441D
19 50412417 1 NUP62 G A exonic synonymous SNV NUP62:NM_001193357:exon2:c.C648T:p.S216S,NUP62:NM_012346:exon2:c.C648T:p.S216S,NUP62:NM_153718:exon2:c.C648T:p.S216S,NUP62:NM_016553:exon3:c.C648T:p.S216S,NUP62:NM_153719:exon3:c.C648T:p.S216S RS999583 Urinary albumin-to-creatinine ratio
19 50435747 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 50726570 2 MYH14 G A exonic synonymous SNV MYH14:NM_001077186:exon5:c.G657A:p.A219A,MYH14:NM_001145809:exon5:c.G657A:p.A219A,MYH14:NM_024729:exon5:c.G657A:p.A219A RS4801822 LDL cholesterol:Coronary artery disease (CAD):Salmonella-induced pyroptosis
19 50760716 2 MYH14 C G exonic synonymous SNV MYH14:NM_024729:exon16:c.C2082G:p.R694R,MYH14:NM_001077186:exon17:c.C2106G:p.R702R,MYH14:NM_001145809:exon18:c.C2205G:p.R735R RS378811 HOMA-IR:LDL cholesterol
19 50762418 1 MYH14 A G exonic synonymous SNV MYH14:NM_024729:exon17:c.A2127G:p.P709P,MYH14:NM_001077186:exon18:c.A2151G:p.P717P,MYH14:NM_001145809:exon19:c.A2250G:p.P750P
19 50796905 1 MYH14 G A exonic synonymous SNV MYH14:NM_024729:exon37:c.G5307A:p.S1769S,MYH14:NM_001077186:exon38:c.G5331A:p.S1777S,MYH14:NM_001145809:exon39:c.G5430A:p.S1810S RS3745509 2 hour glucose:Obesity with early age of onset (age >2):Mitral annular calcium
19 50902196 1 POLD1 C T exonic nonsynonymous SNV POLD1:NM_001308632:exon1:c.C88T:p.R30W,POLD1:NM_001256849:exon2:c.C88T:p.R30W,POLD1:NM_002691:exon2:c.C88T:p.R30W
19 51301395 1 C19orf48 C T exonic nonsynonymous SNV C19orf48:NM_001290150:exon3:c.G311A:p.G104E,C19orf48:NM_001290151:exon4:c.G311A:p.G104E,C19orf48:NM_001290152:exon4:c.G311A:p.G104E,C19orf48:NM_001290155:exon4:c.G311A:p.G104E,C19orf48:NM_032712:exon4:c.G311A:p.G104E,C19orf48:NM_199250:exon4:c.G311A:p.G104E,C19orf48:NM_001290153:exon5:c.G311A:p.G104E,C19orf48:NM_001290154:exon5:c.G311A:p.G104E,C19orf48:NM_199249:exon5:c.G311A:p.G104E,C19orf48:NM_001290149:exon6:c.G311A:p.G104E RS4801853 Gene expression of C19orf48 in lymphoblastoid cell lines:LDL cholesterol:Gene expression of C19orf48 in CD4+ lymphocytes:Gene expression of C19orf48 in blood:Gene expression of ZNF473 in normal prepouch ileum
19 51301456 1 C19orf48 G A exonic nonsynonymous SNV C19orf48:NM_001290150:exon3:c.C250T:p.R84C,C19orf48:NM_001290151:exon4:c.C250T:p.R84C,C19orf48:NM_001290152:exon4:c.C250T:p.R84C,C19orf48:NM_001290155:exon4:c.C250T:p.R84C,C19orf48:NM_032712:exon4:c.C250T:p.R84C,C19orf48:NM_199250:exon4:c.C250T:p.R84C,C19orf48:NM_001290153:exon5:c.C250T:p.R84C,C19orf48:NM_001290154:exon5:c.C250T:p.R84C,C19orf48:NM_199249:exon5:c.C250T:p.R84C,C19orf48:NM_001290149:exon6:c.C250T:p.R84C RS4802741 Abnormal Involuntary Movement Scale:LDL cholesterol change with statins:Gene expression of ZNF473 in normal prepouch ileum
19 51837171 1 VSIG10L A G exonic synonymous SNV VSIG10L:NM_001163922:exon9:c.T2448C:p.P816P RS7255306 Gene expression of CLDND2 (ENSG00000160318) in dendritic cells treated with Mycobacterium tuberculosis
19 51841417 1 VSIG10L C T exonic nonsynonymous SNV VSIG10L:NM_001163922:exon6:c.G1775A:p.R592Q
19 51843808 1 VSIG10L C T exonic nonsynonymous SNV VSIG10L:NM_001163922:exon3:c.G1068A:p.M356I
19 52714719 1 PPP2R1A C T exonic synonymous SNV PPP2R1A:NM_014225:exon4:c.C477T:p.S159S
19 53086362 1 ZNF701 A T exonic synonymous SNV ZNF701:NM_018260:exon4:c.A1050T:p.G350G,ZNF701:NM_001172655:exon5:c.A1248T:p.G416G
19 53270384 2 ZNF600 A G exonic nonsynonymous SNV ZNF600:NM_198457:exon3:c.T625C:p.C209R,ZNF600:NM_001321867:exon4:c.T832C:p.C278R,ZNF600:NM_001321866:exon6:c.T832C:p.C278R RS1820128 Adiponectin levels:Refractive error
19 53303527 2 ZNF28 A G exonic nonsynonymous SNV ZNF28:NM_006969:exon4:c.T1571C:p.M524T
19 53303705 2 ZNF28 T G exonic nonsynonymous SNV ZNF28:NM_006969:exon4:c.A1393C:p.K465Q
19 53454789 1 ZNF816 A T exonic nonsynonymous SNV ZNF816:NM_001202456:exon4:c.T239A:p.I80N,ZNF816:NM_001202457:exon4:c.T239A:p.I80N,ZNF816:NM_001031665:exon5:c.T239A:p.I80N RS12459008 Barnes Akathisia Rating Scale:Abnormal Involuntary Movement Scale:Lp-PLA2 activity:Lp-PLA2 mass:Rheumatoid arthritis:Gene expression of ZNF702 in peripheral blood monocytes:Urinary albumin-to-creatinine ratio
19 53958263 1 ZNF761;ZNF765-ZNF761 G A exonic nonsynonymous SNV ZNF761:NM_001289951:exon6:c.G502A:p.V168I,ZNF761:NM_001289952:exon6:c.G502A:p.V168I,ZNF761:NM_001008401:exon7:c.G502A:p.V168I,ZNF765-ZNF761:NM_001350496:exon14:c.G502A:p.V168I RS1984432 HDL cholesterol:Schizophrenia:HDL cholesterol:Gene expression of TEP1 in peripheral blood monocytes:Gene expression of FLJ16231 in CD4+ lymphocytes:Adiponectin levels:College completion
19 53959343 1 ZNF761;ZNF765-ZNF761 G A exonic nonsynonymous SNV ZNF761:NM_001289951:exon6:c.G1582A:p.G528S,ZNF761:NM_001289952:exon6:c.G1582A:p.G528S,ZNF761:NM_001008401:exon7:c.G1582A:p.G528S,ZNF765-ZNF761:NM_001350496:exon14:c.G1582A:p.G528S RS2708742 LDL cholesterol:Gene expression of RAB30 in peripheral blood monocytes
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 54600232 2 OSCAR A C exonic nonsynonymous SNV OSCAR:NM_001282350:exon3:c.T257G:p.I86S,OSCAR:NM_133168:exon3:c.T257G:p.I86S,OSCAR:NM_001282349:exon4:c.T290G:p.I97S,OSCAR:NM_133169:exon4:c.T290G:p.I97S,OSCAR:NM_130771:exon5:c.T302G:p.I101S,OSCAR:NM_206818:exon5:c.T302G:p.I101S
19 54649671 2 CNOT3 T C exonic synonymous SNV CNOT3:NM_014516:exon9:c.T729C:p.P243P
19 54652203 2 CNOT3 T C exonic synonymous SNV CNOT3:NM_014516:exon11:c.T1215C:p.G405G RS43211 HDL cholesterol change with statins:Cystatin C in serum:Triglycerides:Parkinson's disease
19 54656709 1 CNOT3 A T exonic synonymous SNV CNOT3:NM_014516:exon16:c.A2010T:p.T670T
19 54672342 1 TMC4 C T exonic synonymous SNV TMC4:NM_001145303:exon4:c.G525A:p.V175V,TMC4:NM_144686:exon4:c.G507A:p.V169V
19 54677759 2 MBOAT7 T C exonic synonymous SNV MBOAT7:NM_001146056:exon6:c.A1179G:p.P393P,MBOAT7:NM_001146083:exon7:c.A1179G:p.P393P,MBOAT7:NM_024298:exon8:c.A1398G:p.P466P
19 54697079 2 TSEN34 C T exonic synonymous SNV TSEN34:NM_001077446:exon4:c.C795T:p.P265P,TSEN34:NM_001282332:exon5:c.C795T:p.P265P,TSEN34:NM_001282333:exon5:c.C804T:p.P268P,TSEN34:NM_024075:exon5:c.C795T:p.P265P RS7595 Gene expression of IGSF21 in Temporal cortex:Height change (cm/y) in children
19 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 55559715 2 RDH13 G A exonic synonymous SNV RDH13:NM_001145971:exon5:c.C640T:p.L214L,RDH13:NM_138412:exon6:c.C427T:p.L143L RS2305543 Cystatin C in serum:Late onset Alzheimer's disease:Gene expression change of EPS8L1 (ENSG00000131037) in dendritic cells after treatment with Mycobacterium tuberculosis
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 55624113 1 PPP1R12C G A exonic synonymous SNV PPP1R12C:NM_001271618:exon2:c.C372T:p.G124G,PPP1R12C:NM_017607:exon2:c.C372T:p.G124G
19 55699454 2 PTPRH T C exonic nonsynonymous SNV PTPRH:NM_001161440:exon11:c.A1933G:p.K645E,PTPRH:NM_002842:exon13:c.A2467G:p.K823E
19 55708508 1 PTPRH G T exonic nonsynonymous SNV PTPRH:NM_001161440:exon7:c.C1433A:p.T478K,PTPRH:NM_002842:exon9:c.C1967A:p.T656K
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 55713535 1 PTPRH G A exonic nonsynonymous SNV PTPRH:NM_001161440:exon4:c.C508T:p.H170Y,PTPRH:NM_002842:exon6:c.C1042T:p.H348Y
19 55715319 1 PTPRH C G exonic synonymous SNV PTPRH:NM_002842:exon5:c.G717C:p.S239S RS9304763 Infant head circumference
19 55716800 1 PTPRH A G exonic synonymous SNV PTPRH:NM_002842:exon4:c.T513C:p.T171T RS2288516 HDL cholesterol
19 55738634 2 TMEM86B T C exonic nonsynonymous SNV TMEM86B:NM_173804:exon3:c.A596G:p.H199R RS4644955 Irritible bowel syndrome:Longstanding arthritis:HDL cholesterol:Triglycerides change with statins:Urinary albumin-to-creatinine ratio:Gene expression of TMEM86B in blood:Primary rhegmatogenous retinal detachment:Birth weight
19 55739689 1 TMEM86B G A exonic synonymous SNV TMEM86B:NM_173804:exon2:c.C168T:p.P56P
19 55913038 1 UBE2S C T exonic synonymous SNV UBE2S:NM_014501:exon4:c.G435A:p.A145A
19 55964720 1 ISOC2 G A exonic synonymous SNV ISOC2:NM_001136202:exon5:c.C363T:p.S121S,ISOC2:NM_001136201:exon6:c.C573T:p.S191S,ISOC2:NM_024710:exon6:c.C621T:p.S207S RS2303089 Adiponectin levels
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 56090524 1 ZNF579 G A exonic nonsynonymous SNV ZNF579:NM_152600:exon2:c.C482T:p.A161V
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 56154339 1 ZNF580 C T exonic synonymous SNV ZNF580:NM_016202:exon1:c.C465T:p.C155C,ZNF580:NM_001163423:exon2:c.C465T:p.C155C,ZNF580:NM_207115:exon2:c.C465T:p.C155C
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 56658422 1 ZNF444 T C exonic nonsynonymous SNV ZNF444:NM_001253792:exon3:c.T142C:p.W48R,ZNF444:NM_018337:exon3:c.T142C:p.W48R
19 56733460 1 ZSCAN5A C T exonic synonymous SNV ZSCAN5A:NM_001322077:exon5:c.G624A:p.P208P,ZSCAN5A:NM_001322078:exon5:c.G585A:p.P195P,ZSCAN5A:NM_001322062:exon6:c.G1131A:p.P377P,ZSCAN5A:NM_001322064:exon6:c.G975A:p.P325P,ZSCAN5A:NM_001322065:exon6:c.G975A:p.P325P,ZSCAN5A:NM_001322066:exon6:c.G975A:p.P325P,ZSCAN5A:NM_001322067:exon6:c.G975A:p.P325P,ZSCAN5A:NM_001322068:exon6:c.G975A:p.P325P,ZSCAN5A:NM_001322069:exon6:c.G975A:p.P325P,ZSCAN5A:NM_001322070:exon6:c.G975A:p.P325P,ZSCAN5A:NM_001322073:exon6:c.G972A:p.P324P,ZSCAN5A:NM_001322074:exon6:c.G972A:p.P324P,ZSCAN5A:NM_001322075:exon6:c.G972A:p.P324P,ZSCAN5A:NM_001322076:exon6:c.G972A:p.P324P,ZSCAN5A:NM_024303:exon6:c.G975A:p.P325P,ZSCAN5A:NM_001322061:exon7:c.G1131A:p.P377P,ZSCAN5A:NM_001322072:exon7:c.G975A:p.P325P
19 57325083 2 PEG3 C T exonic nonsynonymous SNV PEG3:NM_001146186:exon7:c.G4727A:p.R1576H,PEG3:NM_001146184:exon9:c.G4727A:p.R1576H,PEG3:NM_001146185:exon9:c.G4349A:p.R1450H,PEG3:NM_001146187:exon9:c.G4355A:p.R1452H,PEG3:NM_006210:exon10:c.G4727A:p.R1576H
19 57326721 2 PEG3 C T exonic nonsynonymous SNV PEG3:NM_001146186:exon7:c.G3089A:p.R1030Q,PEG3:NM_001146184:exon9:c.G3089A:p.R1030Q,PEG3:NM_001146185:exon9:c.G2711A:p.R904Q,PEG3:NM_001146187:exon9:c.G2717A:p.R906Q,PEG3:NM_006210:exon10:c.G3089A:p.R1030Q
19 57672031 2 DUXA T C exonic nonsynonymous SNV DUXA:NM_001012729:exon2:c.A160G:p.T54A
19 57672039 2 DUXA T G exonic nonsynonymous SNV DUXA:NM_001012729:exon2:c.A152C:p.E51A
19 57672080 2 DUXA C T exonic synonymous SNV DUXA:NM_001012729:exon2:c.G111A:p.K37K
19 57672087 2 DUXA T G exonic nonsynonymous SNV DUXA:NM_001012729:exon2:c.A104C:p.N35T
19 57868336 2 ZNF304 A G exonic nonsynonymous SNV ZNF304:NM_020657:exon3:c.A1099G:p.K367E,ZNF304:NM_001290318:exon4:c.A1240G:p.K414E,ZNF304:NM_001290319:exon4:c.A973G:p.K325E,ZNF304:NM_001329456:exon4:c.A823G:p.K275E RS862709 Urinary albumin-to-creatinine ratio:Parkinson's disease
19 57909872 2 ZNF548 G A exonic nonsynonymous SNV ZNF548:NM_152909:exon3:c.G217A:p.A73T,ZNF548:NM_001172773:exon4:c.G253A:p.A85T RS4801478 Body mass index (BMI):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 58718269 1 ZNF274 G A exonic unknown UNKNOWN RS7256349 2 hour glucose:Fasting blood glucose:HDL cholesterol:HDL cholesterol:Gene expression of ZNF544 in blood:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:College completion
19 58774071 2 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 58864479 1 A1BG T C exonic nonsynonymous SNV A1BG:NM_130786:exon3:c.A155G:p.H52R RS893184 Fasting blood glucose:Urinary albumin-to-creatinine ratio:Gene expression of AC010642.5 in blood:Gene expression of ZNF324 in blood:Gene expression of ZNF497 [probeset 230857_s_at] in sputum:Gene expression of NCRNA00181 [probeset 232462_s_at] in sputum:Transmission distortion
19 58982384 2 ZNF324 A G exonic synonymous SNV ZNF324:NM_014347:exon4:c.A525G:p.R175R
19 118678364 2
19 148681299 2
19 153284192 2
20 278515 2 ZCCHC3 T C exonic synonymous SNV ZCCHC3:NM_033089:exon1:c.T288C:p.D96D
20 279185 1 ZCCHC3 C T exonic synonymous SNV ZCCHC3:NM_033089:exon1:c.C958T:p.L320L
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 377226 1 TRIB3 C T exonic synonymous SNV TRIB3:NM_001301188:exon4:c.C969T:p.A323A,TRIB3:NM_001301190:exon4:c.C969T:p.A323A,TRIB3:NM_001301193:exon4:c.C969T:p.A323A,TRIB3:NM_001301196:exon4:c.C969T:p.A323A,TRIB3:NM_021158:exon4:c.C969T:p.A323A,TRIB3:NM_001301201:exon5:c.C1050T:p.A350A RS6115830 Comorbid depressive syndrome and alcohol dependence:Resistance to kuru in aged women despite likely exposure
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 1108122 1 PSMF1 C T exonic synonymous SNV PSMF1:NM_001323407:exon3:c.C72T:p.I24I,PSMF1:NM_001323408:exon3:c.C336T:p.I112I,PSMF1:NM_001323409:exon3:c.C336T:p.I112I,PSMF1:NM_001323410:exon3:c.C336T:p.I112I,PSMF1:NM_006814:exon3:c.C336T:p.I112I,PSMF1:NM_178578:exon4:c.C336T:p.I112I
20 1293046 1 SDCBP2 G A exonic nonsynonymous SNV SDCBP2:NM_015685:exon3:c.C412T:p.R138C,SDCBP2:NM_001199784:exon7:c.C667T:p.R223C,SDCBP2:NM_080489:exon7:c.C667T:p.R223C RS1048621 Gene expression of SDCBP2 [probe 3894545] in peripheral blood mononuclear cells:Total cholesterol:Partial epilepsy:Gene expression of NSFL1C in blood:Gene expression of [probe 650554 centered at chr20:1364589] in blood:Hypertension (early onset hypertension):Birth weight:Tetrology of fallot:Gene expression of SDCBP2 (probeID ILMN_2376822) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of SDCBP2 (probeID ILMN_2376822) in cerebellum in Alzheimer's disease cases and controls
20 1293107 1 SDCBP2 G A exonic synonymous SNV SDCBP2:NM_015685:exon3:c.C351T:p.H117H,SDCBP2:NM_001199784:exon7:c.C606T:p.H202H,SDCBP2:NM_080489:exon7:c.C606T:p.H202H
20 1293247 2 SDCBP2 C T exonic nonsynonymous SNV SDCBP2:NM_015685:exon2:c.G289A:p.V97M,SDCBP2:NM_001199784:exon6:c.G544A:p.V182M,SDCBP2:NM_080489:exon6:c.G544A:p.V182M RS2273959 Autism:Gene expression of [probe 650554 centered at chr20:1364589] in blood:Gene expression of SDCBP2 (probeID ILMN_2376822) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of SDCBP2 (probeID ILMN_2376822) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of SDCBP2 (probeID ILMN_2376822) in temporal cortex in Alzheimer's disease cases:Transmission distortion:Gene expression of SDCBP2 (probeID ILMN_2376822) in cerebellum in non-Alzheimer's disease samples:Gene expression of SDCBP2 (probeID ILMN_2376822) in temporal cortex in Progressive Supranuclear Palsy cases:Maternal transmission distortion:Gene expression of SDCBP2 (probeID ILMN_2376822) in cerebellum in Alzheimer's disease cases and controls:Tetrology of fallot:Gene expression of SDCBP2 (probeID ILMN_2376822) in cerebellum in Alzheimer's disease cases
20 1350709 2 FKBP1A T C exonic synonymous SNV FKBP1A:NM_001199786:exon4:c.A258G:p.P86P RS8392 PROP taste detection threshold:Gene expression of FKBP1A (ENSG00000088832) in dendritic cells:Gene expression of FKBP1A (ENSG00000088832) in dendritic cells treated with Mycobacterium tuberculosis
20 1426393 1 NSFL1C C T exonic nonsynonymous SNV NSFL1C:NM_018839:exon7:c.G775A:p.D259N,NSFL1C:NM_016143:exon8:c.G868A:p.D290N RS9575 Barnes Akathisia Rating Scale:HOMA-IR:Gene expression of NSFL1C in Temporal cortex:Gene expression of NSFL1C in Cerebellum:Gene expression of NSFL1C in Caudal pons:Gene expression of NSFL1C in Frontal cortex:Body mass index (BMI):Gene expression of NSFL1C [transcript NM_182483, probe A_23_P210719] in liver:Gene expression of NSFL1C (probeID ILMN_2366719) in cerebellum in Alzheimer's disease cases and controls:Gene expression of NSFL1C (probeID ILMN_2366719) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of NSFL1C (probeID ILMN_1657624) in cerebellum in Alzheimer's disease cases and controls:Gene expression of NSFL1C (probeID ILMN_1657624) in temporal cortex in Alzheimer's disease cases and controls
20 2464353 1 ZNF343 A G exonic synonymous SNV ZNF343:NM_001282498:exon4:c.T984C:p.F328F,ZNF343:NM_001282496:exon6:c.T1254C:p.F418F,ZNF343:NM_001321800:exon6:c.T1254C:p.F418F,ZNF343:NM_001321805:exon6:c.T1251C:p.F417F,ZNF343:NM_024325:exon6:c.T1254C:p.F418F,ZNF343:NM_001282495:exon7:c.T1254C:p.F418F,ZNF343:NM_001282497:exon7:c.T1377C:p.F459F,ZNF343:NM_001321801:exon7:c.T1377C:p.F459F,ZNF343:NM_001321802:exon7:c.T1374C:p.F458F,ZNF343:NM_001321803:exon7:c.T1374C:p.F458F
20 2633936 2 NOP56 T C exonic synonymous SNV NOP56:NM_006392:exon3:c.T105C:p.S35S
20 2816821 1 PCED1A C T exonic synonymous SNV PCED1A:NM_001271168:exon7:c.G828A:p.P276P,PCED1A:NM_022760:exon7:c.G981A:p.P327P
20 2846052 1 VPS16 T C exonic nonsynonymous SNV VPS16:NM_080413:exon18:c.T1750C:p.W584R,VPS16:NM_022575:exon22:c.T2182C:p.W728R
20 3147762 2 LZTS3 A G exonic synonymous SNV LZTS3:NM_001282533:exon3:c.T48C:p.D16D
20 3171337 1 DDRGK1 C T exonic nonsynonymous SNV DDRGK1:NM_023935:exon9:c.G907A:p.A303T RS11591 Infant head circumference
20 3210301 1 SLC4A11 G A exonic synonymous SNV SLC4A11:NM_032034:exon13:c.C1659T:p.N553N,SLC4A11:NM_001174089:exon14:c.C1611T:p.N537N,SLC4A11:NM_001174090:exon14:c.C1740T:p.N580N
20 3211235 1 SLC4A11 C T exonic synonymous SNV SLC4A11:NM_032034:exon11:c.G1389A:p.T463T,SLC4A11:NM_001174089:exon12:c.G1341A:p.T447T,SLC4A11:NM_001174090:exon12:c.G1470A:p.T490T RS6084312 Eye color:Stabilized warfarin dose:Gene expression of C20orf116 in blood:Cognitive response to topiramate treatment as measured by the Controlled Oral Word Association cognitive test
20 3214819 2 SLC4A11 T G exonic synonymous SNV SLC4A11:NM_032034:exon4:c.A481C:p.R161R,SLC4A11:NM_001174089:exon5:c.A433C:p.R145R,SLC4A11:NM_001174090:exon5:c.A562C:p.R188R RS3827075 Rheumatoid arthritis:HDL cholesterol change with statins:Methylation levels at chr20:3166095-3166145 [hg18 coord, probe cg08284598] in Cerebellum:Gene expression of C20orf116 in blood:Gene expression of UBOX5 in blood:Cognitive response to topiramate treatment as measured by the Animals cognitive test:Bipolar disorder
20 3218634 2 SLC4A11 G C exonic nonsynonymous SNV SLC4A11:NM_001174090:exon1:c.C77G:p.P26R
20 3285126 1 C20orf194 A T exonic synonymous SNV C20orf194:NM_001009984:exon21:c.T1743A:p.I581I RS2254916 Rheumatoid arthritis:Infant head circumference
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 3546058 1 ATRN A G exonic nonsynonymous SNV ATRN:NM_001207047:exon11:c.A1502G:p.H501R,ATRN:NM_001323332:exon11:c.A1850G:p.H617R,ATRN:NM_139321:exon11:c.A1850G:p.H617R,ATRN:NM_139322:exon11:c.A1850G:p.H617R
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 3624830 1 ATRN G A exonic synonymous SNV ATRN:NM_139321:exon28:c.G4080A:p.P1360P RS2246808 Mitral annular calcium:Parkinson's disease
20 3838441 1 MAVS C G exonic nonsynonymous SNV MAVS:NM_020746:exon3:c.C277G:p.Q93E
20 3843027 1 MAVS C A exonic nonsynonymous SNV MAVS:NM_001206491:exon4:c.C169A:p.Q57K,MAVS:NM_020746:exon5:c.C592A:p.Q198K RS7262903 Gene expression of KIAA1271 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of SNORD22 in peripheral blood monocytes:Gene expression of VISA in peripheral blood monocytes:Gene expression of KIAA1271 [probe ILMN_138982] in osteoblasts treated with PGE2:Gene expression of MAVS [transcript NM_020746, probe A_24_P928798] in liver:Gene expression of RP11-119B16.1 in blood:Gene expression of PANK2 in blood
20 3846397 1 MAVS C T exonic nonsynonymous SNV MAVS:NM_001206491:exon6:c.C803T:p.S268F,MAVS:NM_020746:exon7:c.C1226T:p.S409F RS7269320 Fasting blood glucose:Gene expression of SNORD22 in peripheral blood monocytes:Gene expression of VISA in peripheral blood monocytes:1-Methylnicotinamide:cis-Aconitate:Gene expression of RP11-119B16.1 in blood:Gene expression of PANK2 in blood
20 3870124 1 PANK2 G C exonic nonsynonymous SNV PANK2:NM_001324192:exon1:c.G377C:p.G126A,PANK2:NM_153638:exon1:c.G377C:p.G126A
20 4163302 1 SMOX A G exonic synonymous SNV SMOX:NM_001270691:exon5:c.A1176G:p.A392A,SMOX:NM_175839:exon5:c.A1176G:p.A392A,SMOX:NM_175840:exon6:c.A1017G:p.A339A,SMOX:NM_175842:exon6:c.A1017G:p.A339A RS1051904 Fasting insulin:HOMA-IR:HDL cholesterol:Adiponectin levels
20 4164283 1 SMOX A G exonic synonymous SNV SMOX:NM_001270691:exon6:c.A1512G:p.T504T,SMOX:NM_175839:exon6:c.A1512G:p.T504T,SMOX:NM_175840:exon7:c.A1353G:p.T451T,SMOX:NM_175842:exon7:c.A1353G:p.T451T RS1741327 Differential exon level expression of SMOX [probe 3874654] in brain cortex:Gene expression of SMOX in blood:Adiponectin levels
20 4680251 1 PRNP A G exonic nonsynonymous SNV PRNP:NM_000311:exon2:c.A385G:p.M129V,PRNP:NM_001080121:exon2:c.A385G:p.M129V,PRNP:NM_001080122:exon2:c.A385G:p.M129V,PRNP:NM_001080123:exon2:c.A385G:p.M129V,PRNP:NM_183079:exon2:c.A385G:p.M129V RS1799990 Variant Creutzfeldt-Jakob disease:Resistance to kuru despite exposure:Kuru incubation:Sporadic Creutzfeldt-Jakob disease:Iatrogenic Creutzfeldt-Jakob disease:Waist hip ratio:Gene expression of PRNP in blood:Variant Creutzfeldt-Jakob disease:Sporadic Creutzfeldt-Jakob disease:College completion:Years of education:Birth weight
20 4843470 1 SLC23A2 C A exonic synonymous SNV SLC23A2:NM_005116:exon14:c.G1440T:p.A480A,SLC23A2:NM_203327:exon14:c.G1440T:p.A480A
20 6100088 1 FERMT1 A G exonic synonymous SNV FERMT1:NM_017671:exon2:c.T114C:p.H38H RS10373 Alzheimer's disease:Childhood acute lymphoblastic leukemia:HDL cholesterol change with statins:Chronic kidney disease:Serum creatinine
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 10019093 1 ANKEF1 A G exonic synonymous SNV ANKEF1:NM_198798:exon2:c.A144G:p.G48G,ANKEF1:NM_022096:exon3:c.A144G:p.G48G RS575534 Childhood acute lymphoblastic leukemia
20 10030188 1 ANKEF1 T A exonic nonsynonymous SNV ANKEF1:NM_198798:exon6:c.T971A:p.L324Q,ANKEF1:NM_001303472:exon7:c.T404A:p.L135Q,ANKEF1:NM_022096:exon7:c.T971A:p.L324Q RS652633 Lp-PLA2 mass:HDL cholesterol:Years of education
20 10032413 1 ANKEF1 T G exonic synonymous SNV ANKEF1:NM_198798:exon7:c.T1746G:p.A582A,ANKEF1:NM_001303472:exon8:c.T1179G:p.A393A,ANKEF1:NM_022096:exon8:c.T1746G:p.A582A RS683145 HDL cholesterol:Years of education
20 10386013 1 MKKS C A exonic nonsynonymous SNV MKKS:NM_018848:exon6:c.G1595T:p.G532V,MKKS:NM_170784:exon6:c.G1595T:p.G532V RS1545 Rheumatoid arthritis:Arthritis including non-Rheumatoid:Neuroblastoma (brain cancer):Gene expression of MKKS in blood:Diastolic blood pressure (DBP):Refractive error:College completion
20 10386059 1 MKKS G A exonic nonsynonymous SNV MKKS:NM_018848:exon6:c.C1549T:p.R517C,MKKS:NM_170784:exon6:c.C1549T:p.R517C RS1547 Rheumatoid arthritis:Arthritis including non-Rheumatoid:Neuroblastoma (brain cancer):Gene expression of MKKS in blood:Diastolic blood pressure (DBP):Refractive error
20 10393629 1 MKKS G A exonic synonymous SNV MKKS:NM_018848:exon3:c.C534T:p.I178I,MKKS:NM_170784:exon3:c.C534T:p.I178I
20 10394046 1 MKKS G A exonic synonymous SNV MKKS:NM_018848:exon3:c.C117T:p.P39P,MKKS:NM_170784:exon3:c.C117T:p.P39P RS16991547 Plasma aldosterone concentration corrected by plasma renin activity:Neuroblastoma (brain cancer):Diastolic blood pressure (DBP):Refractive error
20 10620275 1 JAG1 G A exonic synonymous SNV JAG1:NM_000214:exon26:c.C3528T:p.Y1176Y RS1051421 Serum creatinine:Cystatin C in serum:Partial epilepsy:Total cholesterol:LDL cholesterol:Gene expression of C20orf94 in CD4+ lymphocytes:Refractive error:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:College completion
20 10620386 1 JAG1 A G exonic synonymous SNV JAG1:NM_000214:exon26:c.T3417C:p.Y1139Y RS1051419 Lumbar spine bone mineral density (BMD):Cystatin C in serum:Serum creatinine:Diastolic blood pressure (DBP):Infant head circumference
20 13053018 2 SPTLC3 T G exonic nonsynonymous SNV SPTLC3:NM_018327:exon3:c.T418G:p.L140V,SPTLC3:NM_001349945:exon4:c.T418G:p.L140V RS243887 Obesity with early age of onset (age >2):Hypertension (early onset hypertension):Maternal transmission distortion
20 13053035 2 SPTLC3 A G exonic synonymous SNV SPTLC3:NM_018327:exon3:c.A435G:p.S145S,SPTLC3:NM_001349945:exon4:c.A435G:p.S145S RS243888 Hypertension (early onset hypertension):Obesity with early age of onset (age >2)
20 13134768 1 SPTLC3 T C exonic synonymous SNV SPTLC3:NM_018327:exon10:c.T1398C:p.Y466Y,SPTLC3:NM_001349945:exon11:c.T1398C:p.Y466Y RS6078938 Irritible bowel syndrome:2 hour glucose:Total cholesterol:Aortic valve calcium:Docetaxel-induced neutropenia/leukopenia in cancer patients
20 13140720 1 SPTLC3 G A exonic nonsynonymous SNV SPTLC3:NM_018327:exon11:c.G1486A:p.A496T,SPTLC3:NM_001349945:exon12:c.G1486A:p.A496T
20 13695607 1 ESF1 T G exonic nonsynonymous SNV ESF1:NM_001276380:exon14:c.A2470C:p.I824L,ESF1:NM_016649:exon14:c.A2470C:p.I824L
20 13747441 1 ESF1 A G exonic nonsynonymous SNV ESF1:NM_001276380:exon8:c.T1649C:p.I550T,ESF1:NM_016649:exon8:c.T1649C:p.I550T RS3180370 HDL cholesterol change with statins:Microalbuminuria:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):PROP taste detection threshold:Sporadic Creutzfeldt-Jakob disease:Adiponectin levels:Years of education:Salmonella-induced pyroptosis:Tetrology of fallot
20 16410559 1 KIF16B A T exonic synonymous SNV KIF16B:NM_001199865:exon13:c.T1371A:p.I457I,KIF16B:NM_001199866:exon13:c.T1371A:p.I457I,KIF16B:NM_024704:exon13:c.T1371A:p.I457I
20 17600357 2 RRBP1 G A exonic nonsynonymous SNV RRBP1:NM_004587:exon19:c.C2297T:p.S766L,RRBP1:NM_001042576:exon20:c.C2297T:p.S766L RS11960 Differential exon level expression of RRBP1 [probe 3899201] in peripheral blood mononuclear cells:Tetrology of fallot
20 17605240 2 RRBP1 A T exonic nonsynonymous SNV RRBP1:NM_004587:exon13:c.T1829A:p.L610H,RRBP1:NM_001042576:exon14:c.T1829A:p.L610H
20 18143117 2 KAT14 T G exonic nonsynonymous SNV KAT14:NM_020536:exon6:c.T1199G:p.V400G
20 18167977 2 KAT14 T C exonic synonymous SNV KAT14:NM_020536:exon10:c.T2223C:p.P741P
20 18296072 2 ZNF133 T A exonic nonsynonymous SNV ZNF133:NM_001283005:exon2:c.T520A:p.S174T,ZNF133:NM_001283006:exon3:c.T598A:p.S200T,ZNF133:NM_001283007:exon3:c.T616A:p.S206T,ZNF133:NM_001083330:exon4:c.T574A:p.S192T,ZNF133:NM_001282998:exon4:c.T577A:p.S193T,ZNF133:NM_001282999:exon4:c.T577A:p.S193T,ZNF133:NM_001283008:exon4:c.T292A:p.S98T,ZNF133:NM_001282997:exon5:c.T577A:p.S193T,ZNF133:NM_001283000:exon5:c.T577A:p.S193T,ZNF133:NM_001283001:exon5:c.T577A:p.S193T,ZNF133:NM_001283002:exon5:c.T586A:p.S196T,ZNF133:NM_001283003:exon5:c.T388A:p.S130T,ZNF133:NM_001283004:exon5:c.T388A:p.S130T,ZNF133:NM_001282995:exon6:c.T574A:p.S192T,ZNF133:NM_001282996:exon6:c.T628A:p.S210T,ZNF133:NM_003434:exon7:c.T574A:p.S192T
20 18462421 2 POLR3F A G exonic synonymous SNV POLR3F:NM_001282526:exon8:c.A717G:p.T239T,POLR3F:NM_006466:exon8:c.A840G:p.T280T RS1055171 Birth weight
20 18513350 1 SEC23B G A exonic nonsynonymous SNV SEC23B:NM_001172745:exon11:c.G1276A:p.V426I,SEC23B:NM_001172746:exon11:c.G1222A:p.V408I,SEC23B:NM_006363:exon11:c.G1276A:p.V426I,SEC23B:NM_032985:exon11:c.G1276A:p.V426I,SEC23B:NM_032986:exon11:c.G1276A:p.V426I
20 20493222 1 RALGAPA2 G A exonic synonymous SNV RALGAPA2:NM_020343:exon32:c.C4791T:p.P1597P
20 21142813 1 KIZ T C exonic unknown UNKNOWN RS2236178 LDL cholesterol:Differential exon level expression of C20orf19 [probe 3879393] in brain cortex:Differential exon level expression of C20orf19 [probe 3879393] in peripheral blood mononuclear cells:Total cholesterol:LDL cholesterol:Height:Waist hip ratio:Neuroblastoma (brain cancer):Gene expression of XRN2 in blood:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Birth weight:Salmonella-induced pyroptosis:Advanced age-related macular degeneration (geographic atrophy):Mitral annular calcium:Advanced age-related macular degeneration
20 22562674 2 FOXA2 T C exonic synonymous SNV FOXA2:NM_021784:exon2:c.A1206G:p.Q402Q,FOXA2:NM_153675:exon3:c.A1188G:p.Q396Q
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 25038484 1 ACSS1 G T exonic synonymous SNV ACSS1:NM_001252675:exon1:c.C255A:p.T85T,ACSS1:NM_001252677:exon1:c.C255A:p.T85T,ACSS1:NM_032501:exon1:c.C255A:p.T85T
20 25187213 1 ENTPD6 G A exonic nonsynonymous SNV ENTPD6:NM_001247:exon2:c.G41A:p.S14N,ENTPD6:NM_001317941:exon2:c.G41A:p.S14N,ENTPD6:NM_001322378:exon2:c.G41A:p.S14N,ENTPD6:NM_001322387:exon2:c.G41A:p.S14N,ENTPD6:NM_001322388:exon2:c.G41A:p.S14N,ENTPD6:NM_001322391:exon2:c.G41A:p.S14N,ENTPD6:NM_001322396:exon2:c.G41A:p.S14N,ENTPD6:NM_001322397:exon2:c.G41A:p.S14N,ENTPD6:NM_001322390:exon3:c.G41A:p.S14N RS2076559 Gene expression of ABHD12 [probe 228124_at] in lymphoblastoid cell lines:Spine bone mineral density (BMD):Gene expression of CT022_HUMAN in blood cells in Celiac disease:Schizophrenia:Differential exon level expression of ABHD12 [probe 3901876] in brain cortex:Differential exon level expression of ENTPD6 [probe 3880722] in peripheral blood mononuclear cells:Tardive dyskinesia:HOMA-B:Gene expression of C20orf22 in Temporal cortex:Gene expression of C20orf22 in Cerebellum:LDL cholesterol:Total cholesterol:Gene expression of PYGB in CD4+ lymphocytes:Height:Gene expression of PYGB in blood:Gene expression of [probe 2710615 centered at chr20:25223568] in blood:Gene expression of [probe 7610382 centered at chr20:25229091] in blood:Systolic blood pressure (SBP):Tetrology of fallot:Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls
20 25193949 1 ENTPD6 G A exonic synonymous SNV ENTPD6:NM_001114089:exon4:c.G453A:p.P151P,ENTPD6:NM_001322386:exon4:c.G453A:p.P151P,ENTPD6:NM_001322389:exon4:c.G495A:p.P165P,ENTPD6:NM_001322392:exon4:c.G450A:p.P150P,ENTPD6:NM_001322393:exon4:c.G453A:p.P151P,ENTPD6:NM_001322394:exon4:c.G450A:p.P150P,ENTPD6:NM_001322395:exon4:c.G495A:p.P165P,ENTPD6:NM_001322398:exon4:c.G495A:p.P165P,ENTPD6:NM_001247:exon5:c.G504A:p.P168P,ENTPD6:NM_001317941:exon5:c.G501A:p.P167P,ENTPD6:NM_001322378:exon5:c.G504A:p.P168P,ENTPD6:NM_001322388:exon5:c.G504A:p.P168P,ENTPD6:NM_001322391:exon5:c.G504A:p.P168P,ENTPD6:NM_001322396:exon5:c.G501A:p.P167P,ENTPD6:NM_001322397:exon5:c.G504A:p.P168P,ENTPD6:NM_001322390:exon6:c.G504A:p.P168P RS2076561 HOMA-B:Gene expression of C20orf22 in Temporal cortex:Gene expression of C20orf22 in Cerebellum:LDL cholesterol:Height:Systolic blood pressure (SBP):Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls
20 25195509 2 ENTPD6 A G exonic nonsynonymous SNV ENTPD6:NM_001322385:exon4:c.A409G:p.K137E,ENTPD6:NM_001114089:exon5:c.A553G:p.K185E,ENTPD6:NM_001322386:exon5:c.A553G:p.K185E,ENTPD6:NM_001322387:exon5:c.A460G:p.K154E,ENTPD6:NM_001322389:exon5:c.A595G:p.K199E,ENTPD6:NM_001322392:exon5:c.A550G:p.K184E,ENTPD6:NM_001322393:exon5:c.A553G:p.K185E,ENTPD6:NM_001322394:exon5:c.A550G:p.K184E,ENTPD6:NM_001322395:exon5:c.A595G:p.K199E,ENTPD6:NM_001322398:exon5:c.A595G:p.K199E,ENTPD6:NM_001247:exon6:c.A604G:p.K202E,ENTPD6:NM_001317941:exon6:c.A601G:p.K201E,ENTPD6:NM_001322378:exon6:c.A604G:p.K202E,ENTPD6:NM_001322388:exon6:c.A604G:p.K202E,ENTPD6:NM_001322391:exon6:c.A604G:p.K202E,ENTPD6:NM_001322396:exon6:c.A601G:p.K201E,ENTPD6:NM_001322397:exon6:c.A604G:p.K202E,ENTPD6:NM_001322390:exon7:c.A604G:p.K202E RS6050446 HOMA-B:LDL cholesterol change with statins:Waist hip ratio:Body mass index (BMI)
20 25259006 1 PYGB G T exonic nonsynonymous SNV PYGB:NM_002862:exon8:c.G907T:p.A303S RS2228976 Gene expression of C20orf22 in YRI lymphoblastoid cell lines:Fasting blood glucose:Total cholesterol:College completion:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_2318685) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls:Years of education
20 25260931 1 PYGB A G exonic synonymous SNV PYGB:NM_002862:exon10:c.A1122G:p.A374A RS2227890 Gene expression of ABHD12 [probe 228124_at] in lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:Gene expression of C20orf22 in Cerebellum:Gene expression of C20orf22 in Frontal cortex:Gene expression of C20orf22 in Caudal pons:Gene expression of C20orf22 in Temporal cortex:Height:Gene expression of ABHD12 (probeID ILMN_2318685) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of PYGB (probeID ILMN_1778360) in whole blood:Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and controls:College completion:Gene expression of ABHD12 in normal prepouch ileum:Years of education:Gene expression of ABHD12 (probeID ILMN_1745116) in whole blood:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in Alzheimer's disease cases and controls:Gene expression of PYGB in normal prepouch ileum:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls
20 25262769 1 PYGB G A exonic nonsynonymous SNV PYGB:NM_002862:exon12:c.G1504A:p.D502N RS2227891 Gene expression of C20orf22 in YRI lymphoblastoid cell lines:Fasting blood glucose:Total cholesterol:Years of education:Gene expression change of PYGB (ENSG00000100994) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_2318685) in temporal cortex in Alzheimer's disease cases and controls:College completion:Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls
20 25264814 1 PYGB T C exonic synonymous SNV PYGB:NM_002862:exon14:c.T1695C:p.D565D RS2227892 Gene expression of C20orf22 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of PYGB in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:Gene expression of C20orf22 in Cerebellum:Gene expression of C20orf22 in Frontal cortex:Gene expression of C20orf22 in Caudal pons:Gene expression of C20orf22 in Temporal cortex:LDL cholesterol:Total cholesterol:Height:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and controls:Years of education:Gene expression of ABHD12 (probeID ILMN_2318685) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls:College completion:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in Alzheimer's disease cases and controls
20 25276297 1 PYGB G A exonic synonymous SNV PYGB:NM_002862:exon19:c.G2370A:p.Q790Q RS1130694 Gene expression of ABHD12 [probe 228124_at] in lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:Gene expression of C20orf22 in Temporal cortex:Gene expression of C20orf22 in Cerebellum:Gene expression of C20orf22 in Caudal pons:Gene expression of C20orf22 in Frontal cortex:College completion:Gene expression of ABHD12 (probeID ILMN_2318685) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls:Years of education:Gene expression of ABHD12 in normal prepouch ileum:Gene expression of PYGB in normal prepouch ileum
20 25282944 1 ABHD12 A G exonic synonymous SNV ABHD12:NM_001042472:exon12:c.T1068C:p.D356D,ABHD12:NM_015600:exon12:c.T1068C:p.D356D
20 25288632 1 ABHD12 G A exonic synonymous SNV ABHD12:NM_001042472:exon9:c.C837T:p.R279R,ABHD12:NM_015600:exon9:c.C837T:p.R279R RS6107027 Gene expression of C20orf22 in CEU lymphoblastoid cell lines:Gene expression of ABHD12 [probe 228124_at] in lymphoblastoid cell lines:Fasting blood glucose:Gene expression of C20orf22 in Temporal cortex:Gene expression of C20orf22 in Caudal pons:Gene expression of C20orf22 in Frontal cortex:Gene expression of C20orf22 in Cerebellum:LDL cholesterol:Total cholesterol:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):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 temporal cortex in Alzheimer's disease cases and controls:Years of education:College completion:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ABHD12 in normal prepouch ileum
20 25398790 1 GINS1 G A exonic nonsynonymous SNV GINS1:NM_021067:exon4:c.G289A:p.V97I RS6076347 Gene expression of C20orf22 in CEU lymphoblastoid cell lines:Gene expression of ABHD12 [probe 228124_at] in lymphoblastoid cell lines:HDL cholesterol:Gene expression of CT022_HUMAN in blood cells in Celiac disease:Differential exon level expression of ABHD12 [probe 3901876] in brain cortex:Acute insulin response to glucose:Gene expression of C20orf22 [probe ILMN_15850] in osteoblasts:Acute insulin response:Alzheimer's disease:Fasting blood glucose:HOMA-B:Cystatin C in serum:Gene expression of C20orf22 in Frontal cortex:Gene expression of C20orf22 in Cerebellum:Gene expression of C20orf22 in Caudal pons:Gene expression of C20orf22 in Temporal cortex:Gene expression of ABHD12 in peripheral blood monocytes:Gene expression of NANP in peripheral blood monocytes:Gene expression of PYGB in peripheral blood monocytes:LDL cholesterol:Total cholesterol:Gene expression of C20orf22 in CD4+ lymphocytes:Gene expression of ABHD12 in blood:Gene expression of PYGB in blood:Gene expression of [probe 2710615 centered at chr20:25223568] in blood:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Alkaline phosphatase (ALP) in plasma:Gene expression of ABHD12 in liver:Years of education:Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Progressive Supranuclear Palsy cases: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 non-Alzheimer's disease samples:Gene expression of ABHD12 (probeID ILMN_1745116) 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 GINS1 (ENSG00000101003) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases:Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of ABHD12 in normal prepouch ileum:College completion
20 25456888 1 NINL A G exonic synonymous SNV NINL:NM_025176:exon17:c.T3039C:p.S1013S RS437635 Gene expression of ABHD12 [probe 228124_at] in lymphoblastoid cell lines:Fasting blood glucose:HOMA-B:Gene expression of C20orf22 in Frontal cortex:Gene expression of C20orf22 in Caudal pons:Gene expression of C20orf22 in Temporal cortex:Gene expression of C20orf22 in Cerebellum:LDL cholesterol:Total cholesterol:Body mass index (BMI):Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Gene expression of ABHD12 (probeID ILMN_1745116) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_2318685) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ABHD12 (probeID ILMN_1745116) in cerebellum in Alzheimer's disease cases and controls:College completion:Years of education:Gene expression of ABHD12 (probeID ILMN_2318685) in temporal cortex in Alzheimer's disease cases and controls
20 30193538 1 ID1 A G exonic synonymous SNV ID1:NM_002165:exon1:c.A348G:p.G116G,ID1:NM_181353:exon1:c.A348G:p.G116G RS15817 Advanced age-related macular degeneration (geographic atrophy):Refractive error
20 30381660 1 TPX2 G A exonic nonsynonymous SNV TPX2:NM_012112:exon14:c.G1519A:p.E507K
20 30381758 1 TPX2 G C exonic synonymous SNV TPX2:NM_012112:exon14:c.G1617C:p.S539S RS1062794 HOMA-B:HOMA-IR:Fasting insulin:HDL cholesterol:Height:Diastolic blood pressure (DBP):Infant head circumference
20 30382315 1 TPX2 A G exonic synonymous SNV TPX2:NM_012112:exon15:c.A1797G:p.R599R RS3203770 HDL cholesterol:Triglycerides:Height:Diastolic blood pressure (DBP)
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 31024274 1 ASXL1 T C exonic synonymous SNV ASXL1:NM_015338:exon12:c.T3759C:p.S1253S
20 31609581 1 BPIFB2 C T exonic synonymous SNV BPIFB2:NM_025227:exon15:c.C1311T:p.V437V RS17124003 Alzheimer's disease:LDL cholesterol change with statins:Total cholesterol:Diastolic blood pressure (DBP):Height:Resistance to kuru in aged women despite likely exposure:Mitral annular calcium
20 32881908 1 AHCY T C exonic nonsynonymous SNV AHCY:NM_000687:exon3:c.A274G:p.I92V,AHCY:NM_001161766:exon3:c.A190G:p.I64V,AHCY:NM_001322084:exon3:c.A190G:p.I64V,AHCY:NM_001322085:exon3:c.A190G:p.I64V,AHCY:NM_001322086:exon3:c.A280G:p.I94V
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 33470694 1 ACSS2 C T exonic synonymous SNV ACSS2:NM_001076552:exon2:c.C276T:p.F92F,ACSS2:NM_018677:exon2:c.C276T:p.F92F RS4911163 Gene expression of ACAS2 in CEU-CHB-JPT lymphoblastoid cell lines:Hip bone mineral density (BMD):Gene expression of TRPC4AP in blood cells in Celiac disease:Gene expression of TRPC4AP [probe ILMN_20082] in osteoblasts:Serum creatinine:Rheumatoid arthritis:Gene expression of TRPC4AP in Frontal cortex:Gene expression of TRPC4AP in Temporal cortex:Gene expression of TRPC4AP in Caudal pons:Total cholesterol:HDL cholesterol:Gene expression of ACSS2 in CD4+ lymphocytes:Height:Gene expression of GGTL3 in blood:Gene expression of MYH7B///TRPC4AP in blood:Gene expression of ACSS2///GSS in blood:Gene expression of TRPC4AP in liver:Hypertension (early onset hypertension):Years of education:Gene expression of ACSS2 (probeID ILMN_1714197) in cerebellum in Alzheimer's disease cases and controls:Gene expression of ACSS2 (probeID ILMN_1714197) in temporal cortex in Alzheimer's disease cases and controls
20 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 33971914 2 UQCC1 C T exonic nonsynonymous SNV UQCC1:NM_018244:exon3:c.G152A:p.R51Q,UQCC1:NM_199487:exon3:c.G152A:p.R51Q RS4911494 Height:Height:Spine bone mineral density (BMD):LDL cholesterol:Height:Hip axis length:Height (males):Height (females):Femur length:Gene expression of C20orf44 [probe ILMN_26543] in osteoblasts:Knee osteoarthritis:Hand osteoarthritis:Total cholesterol:Height (adolescents):Height:Height (adults):LDL cholesterol:Total cholesterol:Height:Waist hip ratio:Gene expression of C20orf44 [probe ILMN_26543] in untreated osteoblasts:Gene expression of C20orf44 [probe ILMN_26543] in osteoblasts treated with PGE2:Gene expression of C20orf44 [probe ILMN_26543] in osteoblasts treated with dexamethasone:Gene expression of C20orf44 [probe ILMN_26543] in osteoblasts treated with BMP2:Gene expression of EIF6 in blood:Gene expression of CEP250 in blood:Gene expression of UQCC in blood:Diastolic blood pressure (DBP):Comorbid depressive syndrome and alcohol dependence:Birth weight:Gene expression of CEP250 (probeID ILMN_1799011) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of CEP250 (probeID ILMN_1799011) in cerebellum in Alzheimer's disease cases:Gene expression of CEP250 (probeID ILMN_1799011) in cerebellum in non-Alzheimer's disease samples:Gene expression of CEP250 (probeID ILMN_1799011) in cerebellum in Alzheimer's disease cases and controls:Salmonella-induced pyroptosis:Gene expression of CEP250 (probeID ILMN_1799011) in temporal cortex in Alzheimer's disease cases and controls
20 35507542 1 TLDC2 G A exonic synonymous SNV TLDC2:NM_001304783:exon3:c.G288A:p.R96R,TLDC2:NM_080628:exon3:c.G288A:p.R96R RS3748459 HDL cholesterol:Triglycerides:Total cholesterol:Cystatin C in serum:Rheumatoid arthritis:Comorbid depressive syndrome and alcohol dependence:Salmonella-induced pyroptosis
20 35865054 2 RPN2 C T exonic synonymous SNV RPN2:NM_001324306:exon14:c.C1354T:p.L452L,RPN2:NM_001135771:exon15:c.C1729T:p.L577L,RPN2:NM_001324299:exon15:c.C1729T:p.L577L,RPN2:NM_001324302:exon15:c.C1729T:p.L577L,RPN2:NM_001324303:exon16:c.C1825T:p.L609L,RPN2:NM_001324304:exon16:c.C1825T:p.L609L,RPN2:NM_002951:exon16:c.C1825T:p.L609L,RPN2:NM_001324301:exon17:c.C1873T:p.L625L,RPN2:NM_001324305:exon17:c.C1873T:p.L625L RS4608 Gene expression of C20orf132 (probeID ILMN_2363127) in temporal cortex in Alzheimer's disease cases and controls:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Gene expression of C20orf132 (probeID ILMN_2363127) in cerebellum in Alzheimer's disease cases and controls
20 36030939 2 SRC G C exonic synonymous SNV SRC:NM_005417:exon12:c.G1218C:p.A406A,SRC:NM_198291:exon12:c.G1218C:p.A406A
20 39792063 1 PLCG1 A G exonic nonsynonymous SNV PLCG1:NM_002660:exon9:c.A835G:p.S279G,PLCG1:NM_182811:exon9:c.A835G:p.S279G RS2228246 Emergence of suicidal ideation during treatment with antidepressants:Emergence of suicidal ideation during treatment with antidepressants  (narrow definition - emergence from suicidal ideation absent at baseline):Emergence of suicidal ideation during treatment with antidepressants  (broad definition - no increase in suicide ideation)
20 39797465 2 PLCG1 T C exonic nonsynonymous SNV PLCG1:NM_002660:exon21:c.T2438C:p.I813T,PLCG1:NM_182811:exon21:c.T2438C:p.I813T RS386611104 Gene expression of THNSL1 [probe 222931_s_at] in lymphoblastoid cell lines:Irritible bowel syndrome:LDL cholesterol:Cystatin C in serum:Rheumatoid arthritis:Total cholesterol:LDL cholesterol:Body mass index (BMI):Gene expression of [probe 5290575 centered at chr20:39239179] in blood:Metabolic syndrome domains (Central obesity):Metabolic syndrome domains (Atherogenic Dyslipidemia - PC2):Metabolic syndrome domains (Atherogenic Dyslipidemia - PC1):Metabolic syndrome domains (Vascular Inflammation - PC2):Metabolic syndrome domains (Elevated plasma glucose):Metabolic syndrome domains (Multivariate analysis):PROP taste detection threshold:Infant head circumference:Amyotrophic lateral sclerosis (ALS) age of onset:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Total cholesterol:Coronary artery disease (CAD):Birth weight:Mitral annular calcium:Prostate cancer
20 42089511 2 SRSF6 T C exonic synonymous SNV SRSF6:NM_006275:exon6:c.T843C:p.P281P RS2235611 Urinary albumin-to-creatinine ratio:Microalbuminuria:Coronary artery disease (CAD):Allele-specific Expression Patterns in human glioblastoma cell line U87MG
20 42225114 2 IFT52 G A exonic synonymous SNV IFT52:NM_001303458:exon3:c.G159A:p.V53V,IFT52:NM_001303459:exon3:c.G159A:p.V53V,IFT52:NM_016004:exon3:c.G159A:p.V53V RS2664519 Gene expression of MYBL2 in CHB-JPT lymphoblastoid cell lines:Height:Urinary albumin-to-creatinine ratio:Infant head circumference:Obesity with early age of onset (age >2)
20 42328639 2 MYBL2 T C exonic synonymous SNV MYBL2:NM_001278610:exon6:c.T834C:p.P278P,MYBL2:NM_002466:exon7:c.T906C:p.P302P RS285162 Height:Urinary albumin-to-creatinine ratio:Systolic blood pressure (SBP)
20 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 43034815 1 HNF4A A C exonic nonsynonymous SNV HNF4A:NM_000457:exon2:c.A233C:p.D78A,HNF4A:NM_001030003:exon2:c.A167C:p.D56A,HNF4A:NM_001030004:exon2:c.A167C:p.D56A,HNF4A:NM_175914:exon2:c.A167C:p.D56A,HNF4A:NM_178849:exon2:c.A233C:p.D78A,HNF4A:NM_178850:exon2:c.A233C:p.D78A,HNF4A:NM_001258355:exon3:c.A212C:p.D71A,HNF4A:NM_001287182:exon3:c.A158C:p.D53A,HNF4A:NM_001287183:exon3:c.A158C:p.D53A,HNF4A:NM_001287184:exon3:c.A158C:p.D53A
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 43629135 2 STK4 G A exonic nonsynonymous SNV STK4:NM_006282:exon8:c.G934A:p.V312M RS17420378 Bipolar disorder, combined control dataset, gender differentiated:Bipolar disorder:Transmission distortion:Birth weight:Paternal transmission distortion
20 43976991 1 SDC4 A G exonic nonsynonymous SNV SDC4:NM_002999:exon1:c.T34C:p.F12L RS2228384 Eye color:Chronic obstructive pulmonary disease (COPD):LDL cholesterol:Gene expression of C20orf169 in blood:Acute lung injury following major trauma:Primary rhegmatogenous retinal detachment
20 44052992 1 PIGT G A exonic synonymous SNV PIGT:NM_001184730:exon8:c.G1065A:p.T355T,PIGT:NM_001184728:exon9:c.G1203A:p.T401T,PIGT:NM_001184729:exon9:c.G1170A:p.T390T,PIGT:NM_015937:exon10:c.G1371A:p.T457T RS13217 Gene expression of PIGT in peripheral blood monocytes:Gene expression of SDC4 (ENSG00000124145) in dendritic cells:Gene expression of SPINT3 (ENSG00000101446) in dendritic cells treated with Mycobacterium tuberculosis:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Gene expression of SYS1 in normal prepouch ileum:Gene expression change of SPINT3 (ENSG00000101446) in dendritic cells after treatment with Mycobacterium tuberculosis
20 44054349 1 PIGT T C exonic synonymous SNV PIGT:NM_001184730:exon10:c.T1314C:p.Y438Y,PIGT:NM_001184728:exon11:c.T1452C:p.Y484Y,PIGT:NM_001184729:exon11:c.T1419C:p.Y473Y,PIGT:NM_015937:exon12:c.T1620C:p.Y540Y RS707577 Schizophrenia:Recurrent early onset major depressive disorder (males):Recurrent early onset major depressive disorder (females):Recurrent early onset major depressive disorder:LDL cholesterol:Total cholesterol:Gene expression of C20orf35 [probe ILMN_16777] in osteoblasts treated with dexamethasone:Gene expression of C20orf169 in blood:Systolic blood pressure (SBP):Gene expression of WFDC2 (probeID ILMN_1706612) in cerebellum in Alzheimer's disease cases and controls:Gene expression of SYS1 (probeID ILMN_1756590) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of WFDC2 (probeID ILMN_1706612) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of SYS1 in normal prepouch ileum:Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Gene expression of WFDC2 (probeID ILMN_1799120) in cerebellum in Alzheimer's disease cases and controls:Gene expression of WFDC2 (probeID ILMN_1799120) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of SYS1 (probeID ILMN_1756590) in cerebellum in Alzheimer's disease cases and controls
20 44505973 1 ZSWIM3 T C exonic nonsynonymous SNV ZSWIM3:NM_080752:exon2:c.T776C:p.V259A RS2903808 Gene expression of ZSWIM1 [probe 217592_at] in lymphoblastoid cell lines:Differential exon level expression of SNX21 [probe 3887087] in brain cortex:2 hour glucose:Methylation levels at chr20:43889508-43889558 [hg18 coord, probe cg08201421] in Cerebellum:HDL cholesterol:Triglycerides:Gene expression of CTSA///PLTP in blood:Gene expression of TNNC2 in blood:Gene expression of WFDC3 in blood:Gene expression of DNTTIP1 in blood:Gene expression of TNNC2 (probeID ILMN_1693428) in cerebellum in Alzheimer's disease cases and controls:Gene expression of TNNC2 (probeID ILMN_1693428) in cerebellum in Alzheimer's disease cases:Gene expression of TNNC2 (probeID ILMN_1693428) in cerebellum in non-Alzheimer's disease samples:Gene expression of TNNC2 (probeID ILMN_1693428) in cerebellum in Progressive Supranuclear Palsy cases:Infant head circumference
20 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 44691350 1 NCOA5 T G exonic synonymous SNV NCOA5:NM_001348148:exon7:c.A1014C:p.T338T,NCOA5:NM_020967:exon8:c.A1329C:p.T443T RS1537028 Irritible bowel syndrome:HDL cholesterol:Gene expression of SNX21 [transcript NM_152897, probe A_24_P117177] in liver:Comorbid depressive syndrome and alcohol dependence:PROP taste detection threshold:Bipolar disorder:Infant head circumference:Birth weight
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 45204266 2 SLC13A3 G A exonic synonymous SNV SLC13A3:NM_001193339:exon9:c.C1128T:p.P376P,SLC13A3:NM_001193340:exon10:c.C1032T:p.P344P,SLC13A3:NM_001193342:exon10:c.C984T:p.P328P,SLC13A3:NM_022829:exon10:c.C1278T:p.P426P,SLC13A3:NM_001011554:exon11:c.C1137T:p.P379P RS1880898 Major depressive disorder (narrow definition):Major depressive disorder (narrow definition) (females):Major depressive disorder (narrow definition) (males):Rheumatoid arthritis:Advanced age-related macular degeneration
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 46256424 1 NCOA3 C T exonic nonsynonymous SNV NCOA3:NM_001174087:exon7:c.C652T:p.R218C,NCOA3:NM_001174088:exon7:c.C652T:p.R218C,NCOA3:NM_006534:exon7:c.C652T:p.R218C,NCOA3:NM_181659:exon7:c.C652T:p.R218C
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 47685320 1 CSE1L G C exonic synonymous SNV CSE1L:NM_001256135:exon7:c.G636C:p.L212L,CSE1L:NM_001316:exon7:c.G636C:p.L212L RS2227946 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
20 47841660 1 DDX27 G T exonic nonsynonymous SNV DDX27:NM_001348187:exon6:c.G617T:p.G206V,DDX27:NM_017895:exon6:c.G617T:p.G206V RS11553387 Bipolar disorder:Hypertension (early onset hypertension):Obesity with early age of onset (age >2):Allele-specific Expression Patterns in human glioblastoma cell line U87MG:Infant head circumference:Years of education
20 47850182 1 DDX27 C T exonic synonymous SNV DDX27:NM_017895:exon11:c.C1302T:p.F434F,DDX27:NM_001348187:exon12:c.C1395T:p.F465F RS238148 Height:Body mass index (BMI):Comorbid depressive syndrome and alcohol dependence:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
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 47865784 1 ZNFX1 C T exonic nonsynonymous SNV ZNFX1:NM_021035:exon14:c.G3777A:p.M1259I RS6512577 Gene expression of probe 239373_at in lymphoblastoid cell lines:Triglycerides change with statins:Height:Gene expression of ZNFX1 in blood:Gene expression of CSE1L in blood:Sporadic Creutzfeldt-Jakob disease:Tetrology of fallot:Hypertension (early onset hypertension):Years of education:Infant head circumference:Obesity with early age of onset (age >2):Allele-specific Expression Patterns in human glioblastoma cell line U87MG
20 48257149 1 B4GALT5 C T exonic synonymous SNV B4GALT5:NM_004776:exon6:c.G660A:p.E220E RS421801 Total cholesterol change with statins:LDL cholesterol change with statins:Gene expression of B4GALT5 in peripheral blood monocytes:Asthma:Gene expression of B4GALT5 [probeset 221484_at] in sputum:PROP taste detection threshold:Obesity with early age of onset (age >2)
20 48259034 1 B4GALT5 A G exonic synonymous SNV B4GALT5:NM_004776:exon5:c.T577C:p.L193L RS2235855 HOMA-B:Total cholesterol:PROP taste detection threshold
20 48522330 1 SPATA2 G A exonic synonymous SNV SPATA2:NM_001135773:exon3:c.C1389T:p.C463C,SPATA2:NM_006038:exon3:c.C1389T:p.C463C RS495337 Parkinson's disease (PD):Psoriasis:Chronic kidney disease:Serum creatinine:Psoriasis:Psoriasis (cutaneous psoriasis):Psoriatic arthritis:Gene expression of HIST1H4F in blood:Gene expression of [probe 6520358 centered at chr1:156369550] in blood:Adiponectin levels:Gene expression of RNF114 in normal prepouch ileum:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
20 48522585 1 SPATA2 G A exonic synonymous SNV SPATA2:NM_001135773:exon3:c.C1134T:p.S378S,SPATA2:NM_006038:exon3:c.C1134T:p.S378S RS492702 Chronic kidney disease:Serum creatinine:Adiponectin levels:Gene expression of RNF114 in normal prepouch ileum:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
20 48524827 1 SPATA2 A G exonic synonymous SNV SPATA2:NM_001135773:exon2:c.T201C:p.Y67Y,SPATA2:NM_006038:exon2:c.T201C:p.Y67Y RS2769982 Simpson-Angus Scale:Chronic kidney disease:Serum creatinine:Gene expression of ZNF313 in peripheral blood monocytes:Gene expression of SPATA2 in peripheral blood monocytes:Gene expression of BID in peripheral blood monocytes:Adiponectin levels
20 48770159 2 TMEM189;TMEM189-UBE2V1 T C exonic nonsynonymous SNV TMEM189:NM_001162505:exon1:c.A16G:p.N6D,TMEM189:NM_199129:exon1:c.A16G:p.N6D,TMEM189-UBE2V1:NM_199203:exon1:c.A16G:p.N6D
20 48808011 2 CEBPB C T exonic synonymous SNV CEBPB:NM_001285878:exon1:c.C372T:p.A124A,CEBPB:NM_005194:exon1:c.C441T:p.A147A
20 50769183 1 ZFP64 G A exonic synonymous SNV ZFP64:NM_022088:exon5:c.C1386T:p.A462A,ZFP64:NM_018197:exon6:c.C1548T:p.A516A,ZFP64:NM_199426:exon6:c.C1542T:p.A514A RS3746415 HDL cholesterol:HDL cholesterol:Obesity with early age of onset (age >2)
20 50769379 1 ZFP64 C T exonic nonsynonymous SNV ZFP64:NM_022088:exon5:c.G1190A:p.S397N,ZFP64:NM_018197:exon6:c.G1352A:p.S451N,ZFP64:NM_199426:exon6:c.G1346A:p.S449N RS3746414 Eye color:HDL cholesterol:Partial epilepsy:HDL cholesterol:Neuroblastoma (brain cancer):Chronic lymphocytic leukemia outcome in response to chemotherapy (progression free survival):Sporadic Creutzfeldt-Jakob disease:Obesity with early age of onset (age >2)
20 50769549 1 ZFP64 A G exonic synonymous SNV ZFP64:NM_022088:exon5:c.T1020C:p.H340H,ZFP64:NM_018197:exon6:c.T1182C:p.H394H,ZFP64:NM_199426:exon6:c.T1176C:p.H392H RS3746413 HDL cholesterol:HDL cholesterol:Gene expression of ZFP64 [transcript NM_199427, probe A_32_P148737] in liver:Obesity with early age of onset (age >2)
20 50803444 1 ZFP64 C T exonic synonymous SNV ZFP64:NM_018197:exon2:c.G213A:p.S71S,ZFP64:NM_022088:exon2:c.G213A:p.S71S,ZFP64:NM_199426:exon2:c.G207A:p.S69S,ZFP64:NM_199427:exon2:c.G213A:p.S71S
20 52192408 1 ZNF217 C T exonic synonymous SNV ZNF217:NM_006526:exon3:c.G2895A:p.A965A
20 52192637 1 ZNF217 T C exonic nonsynonymous SNV ZNF217:NM_006526:exon3:c.A2666G:p.D889G RS34323943 PROP taste detection threshold:Breast cancer:Prostate cancer
20 52193088 1 ZNF217 C T exonic nonsynonymous SNV ZNF217:NM_006526:exon3:c.G2215A:p.V739I RS6063966 Spine bone mineral density (BMD):Neuroticism:Simpson-Angus Scale:HOMA-IR:Fasting insulin:Fasting blood glucose:HOMA-B:Choline:cis-Aconitate:Breast cancer:Gene expression of ZNF217 (ENSG00000171940) in dendritic cells:Primary rhegmatogenous retinal detachment:Gene expression change of ZNF217 (ENSG00000171940) in dendritic cells after treatment with Mycobacterium tuberculosis
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 55052115 1 RTFDC1 C T exonic synonymous SNV RTFDC1:NM_001283036:exon4:c.C333T:p.H111H,RTFDC1:NM_001283037:exon4:c.C333T:p.H111H,RTFDC1:NM_016407:exon4:c.C333T:p.H111H,RTFDC1:NM_001283035:exon5:c.C423T:p.H141H
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 56136536 2 PCK1 A G exonic synonymous SNV PCK1:NM_002591:exon2:c.A69G:p.L23L
20 56137807 2 PCK1 A G exonic synonymous SNV PCK1:NM_002591:exon4:c.A462G:p.S154S RS1042523 Serum creatinine:Chronic kidney disease:Triglycerides:Waist hip ratio:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
20 56137834 2 PCK1 A G exonic synonymous SNV PCK1:NM_002591:exon4:c.A489G:p.S163S RS1062601 Serum creatinine:Chronic kidney disease:Triglycerides:HDL cholesterol:Waist hip ratio:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Transmission distortion
20 56137895 2 PCK1 G C exonic nonsynonymous SNV PCK1:NM_002591:exon4:c.G550C:p.V184L RS707555 Triglycerides:HDL cholesterol:Fasting blood glucose:Serum creatinine:Chronic kidney disease:Triglycerides:Waist hip ratio:College completion
20 56140665 1 PCK1 C T exonic synonymous SNV PCK1:NM_002591:exon10:c.C1674T:p.I558I
20 57290347 2 NPEPL1 C G exonic nonsynonymous SNV NPEPL1:NM_024663:exon12:c.C1537G:p.L513V,NPEPL1:NM_001204872:exon13:c.C1453G:p.L485V,NPEPL1:NM_001204873:exon13:c.C1393G:p.L465V RS6026468 Gene expression of NPEPL1 in JPT lymphoblastoid cell lines:Rheumatoid arthritis
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 57598870 1 TUBB1 C G exonic nonsynonymous SNV TUBB1:NM_030773:exon4:c.C388G:p.L130V
20 57599016 2 TUBB1 T G exonic synonymous SNV TUBB1:NM_030773:exon4:c.T534G:p.T178T
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 60768615 2 MTG2 G A exonic nonsynonymous SNV MTG2:NM_015666:exon2:c.G139A:p.G47S RS6062133 HDL cholesterol:Systolic blood pressure (SBP):Diastolic blood pressure (DBP):Birth weight:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
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 60892545 1 LAMA5 C T exonic nonsynonymous SNV LAMA5:NM_005560:exon55:c.G7367A:p.R2456H
20 60895697 1 LAMA5 C T exonic nonsynonymous SNV LAMA5:NM_005560:exon50:c.G6677A:p.R2226H RS2297587 Rheumatoid arthritis:Triglycerides change with statins:Serum creatinine:Gene expression of RPS21 (ENSG00000171858) in dendritic cells:Obesity with early age of onset (age >2):Gene expression change of CABLES2 (ENSG00000149679) in dendritic cells after treatment with Mycobacterium tuberculosis
20 60897488 1 LAMA5 G A exonic synonymous SNV LAMA5:NM_005560:exon47:c.C6183T:p.F2061F
20 60897772 2 LAMA5 T C exonic nonsynonymous SNV LAMA5:NM_005560:exon46:c.A6107G:p.H2036R
20 60898654 1 LAMA5 G A exonic synonymous SNV LAMA5:NM_005560:exon45:c.C5922T:p.N1974N
20 60899182 1 LAMA5 C T exonic nonsynonymous SNV LAMA5:NM_005560:exon43:c.G5722A:p.A1908T RS11698080 Triglycerides change with statins:Serum creatinine:Obesity with early age of onset (age >2)
20 60899206 1 LAMA5 C T exonic nonsynonymous SNV LAMA5:NM_005560:exon43:c.G5698A:p.V1900M RS2427283 Serum creatinine
20 60900481 2 LAMA5 A G exonic nonsynonymous SNV LAMA5:NM_005560:exon41:c.T5420C:p.F1807S
20 60900579 2 LAMA5 C A exonic synonymous SNV LAMA5:NM_005560:exon41:c.G5322T:p.T1774T
20 60901762 1 LAMA5 C T exonic nonsynonymous SNV LAMA5:NM_005560:exon40:c.G5269A:p.V1757I
20 60902402 1 LAMA5 G A exonic nonsynonymous SNV LAMA5:NM_005560:exon38:c.C4999T:p.R1667W
20 60903419 1 LAMA5 C T exonic synonymous SNV LAMA5:NM_005560:exon35:c.G4530A:p.L1510L
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 60913127 2 LAMA5 A G exonic synonymous SNV LAMA5:NM_005560:exon14:c.T1836C:p.A612A RS8124907 Gene expression of CABLES2 in peripheral blood monocytes:Gene expression of OSBPL2 in peripheral blood monocytes:Microalbuminuria
20 60926828 1 LAMA5 G A exonic synonymous SNV LAMA5:NM_005560:exon6:c.C888T:p.I296I
20 60927349 2 LAMA5 C T exonic synonymous SNV LAMA5:NM_005560:exon4:c.G636A:p.A212A RS483876 Urinary albumin-to-creatinine ratio
20 60966374 1 CABLES2 G C exonic synonymous SNV CABLES2:NM_031215:exon9:c.C1227G:p.G409G
20 60968596 1 CABLES2 A G exonic synonymous SNV CABLES2:NM_031215:exon6:c.T780C:p.H260H RS1570027 LDL cholesterol:Serum creatinine:Cystatin C in serum:Height:Gene expression of C20orf151 (ENSG00000130701) in dendritic cells:Gene expression of LAMA5 (ENSG00000130702) in dendritic cells treated with Mycobacterium tuberculosis
20 60986019 1 RBBP8NL A C exonic nonsynonymous SNV RBBP8NL:NM_080833:exon14:c.T1910G:p.L637R RS2236200 LDL cholesterol:Serum creatinine:Rheumatoid arthritis:Height:Gene expression of RPS21///CABLES2 in blood:Gene expression change of RPS21 (ENSG00000171858) in dendritic cells after treatment with Mycobacterium tuberculosis
20 61288038 1 SLCO4A1 G A exonic nonsynonymous SNV SLCO4A1:NM_016354:exon2:c.G232A:p.V78I
20 61288355 1 SLCO4A1 G T exonic synonymous SNV SLCO4A1:NM_016354:exon2:c.G549T:p.G183G RS3195701 Tetrology of fallot:Adiponectin levels:Hypertension (early onset hypertension)
20 61443636 1 OGFR G A exonic synonymous SNV OGFR:NM_007346:exon7:c.G669A:p.L223L
20 61443660 1 OGFR G A exonic synonymous SNV OGFR:NM_007346:exon7:c.G693A:p.P231P RS3204347 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
20 61443870 1 OGFR C G exonic synonymous SNV OGFR:NM_007346:exon7:c.C903G:p.P301P
20 61468571 2 COL9A3 T C exonic synonymous SNV COL9A3:NM_001853:exon30:c.T1740C:p.P580P
20 61488785 1 TCFL5 T C exonic synonymous SNV TCFL5:NM_001301726:exon4:c.A1197G:p.Q399Q,TCFL5:NM_006602:exon4:c.A1200G:p.Q400Q RS2294996 Gene expression of TCFL5 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of TCFL5 [probe ILMN_12278] in osteoblasts:Fasting blood glucose:Gene expression of TCFL5 in Temporal cortex:Gene expression of TCFL5 in Cerebellum:Gene expression of TCFL5 in Frontal cortex:Gene expression of TCFL5 in Caudal pons:Gene expression of TCFL5 in CD4+ lymphocytes:Gene expression of TCFL5 [probe ILMN_12278] in osteoblasts treated with PGE2:Gene expression of TCFL5 [probe ILMN_12278] in untreated osteoblasts:Gene expression of TCFL5 [probe ILMN_12278] in osteoblasts treated with dexamethasone:Gene expression of TCFL5 [probe ILMN_12278] in osteoblasts treated with BMP2:Late onset Alzheimer's disease:Gene expression of COL9A3///TCFL5 in blood:PROP taste detection threshold:Resistance to kuru in aged women despite likely exposure:Gene expression of TCFL5 in liver:Gene expression of TCFL5 (probeID ILMN_1814247) in cerebellum in Alzheimer's disease cases:Gene expression of TCFL5 (probeID ILMN_1814247) in cerebellum in Alzheimer's disease cases and controls:Gene expression of TCFL5 (probeID ILMN_1814247) in temporal cortex in Alzheimer's disease cases:Gene expression of TCFL5 (probeID ILMN_1814247) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of TCFL5 (probeID ILMN_1814247) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of TCFL5 (probeID ILMN_1814247) in cerebellum in Progressive Supranuclear Palsy cases:Gene expression of TCFL5 (probeID ILMN_1814247) in cerebellum in non-Alzheimer's disease samples
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 61528306 1 DIDO1 A G exonic nonsynonymous SNV DIDO1:NM_001193369:exon7:c.T1631C:p.M544T,DIDO1:NM_001193370:exon7:c.T1631C:p.M544T,DIDO1:NM_033081:exon7:c.T1631C:p.M544T,DIDO1:NM_080797:exon7:c.T1631C:p.M544T RS1883848 Gene expression of Hs.517172 in CEU-CHB-JPT-YRI lymphoblastoid cell lines:Differential exon level expression of DIDO1 [probe 3913564] in brain cortex:Body mass index (BMI):Resistance to kuru in aged women despite likely exposure:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:College completion:Years of education:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
20 61588159 1 SLC17A9 A G exonic synonymous SNV SLC17A9:NM_022082:exon2:c.A102G:p.T34T,SLC17A9:NM_001302643:exon3:c.A84G:p.T28T RS2245341 2 hour glucose:LDL cholesterol
20 61594679 2 SLC17A9 A G exonic nonsynonymous SNV SLC17A9:NM_022082:exon6:c.A683G:p.N228S,SLC17A9:NM_001302643:exon7:c.A665G:p.N222S
20 61595636 1 SLC17A9 C T exonic synonymous SNV SLC17A9:NM_022082:exon8:c.C879T:p.S293S,SLC17A9:NM_001302643:exon9:c.C861T:p.S287S RS2248900 LDL cholesterol:Total cholesterol:Tetrology of fallot:Gene expression of DIDO1 (ENSG00000101191) in dendritic cells
20 61834092 1 YTHDF1 G A exonic synonymous SNV YTHDF1:NM_017798:exon4:c.C1200T:p.D400D
20 61834695 2 YTHDF1 G A exonic synonymous SNV YTHDF1:NM_017798:exon4:c.C597T:p.A199A RS6122103 Fasting blood glucose:Parkinson's disease
20 62191558 1 HELZ2 G A exonic synonymous SNV HELZ2:NM_033405:exon12:c.C5916T:p.A1972A,HELZ2:NM_001037335:exon18:c.C7623T:p.A2541A
20 62194103 2 HELZ2 A G exonic synonymous SNV HELZ2:NM_033405:exon3:c.T4365C:p.P1455P,HELZ2:NM_001037335:exon9:c.T6072C:p.P2024P
20 62194128 2 HELZ2 G A exonic nonsynonymous SNV HELZ2:NM_033405:exon3:c.C4340T:p.P1447L,HELZ2:NM_001037335:exon9:c.C6047T:p.P2016L
20 62196807 2 HELZ2 T C exonic nonsynonymous SNV HELZ2:NM_033405:exon3:c.A1661G:p.H554R,HELZ2:NM_001037335:exon9:c.A3368G:p.H1123R
20 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 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 62236148 2 GMEB2 T C exonic synonymous SNV GMEB2:NM_012384:exon3:c.A177G:p.A59A RS6090471 Cystatin C in serum:Height:Advanced age-related macular degeneration (geographic atrophy)
20 62320968 2 RTEL1 T C exonic synonymous SNV RTEL1:NM_001283010:exon22:c.T1323C:p.D441D,RTEL1:NM_001283009:exon23:c.T1992C:p.D664D,RTEL1:NM_016434:exon23:c.T1992C:p.D664D,RTEL1:NM_032957:exon23:c.T2064C:p.D688D
20 62326110 2 RTEL1 A C exonic nonsynonymous SNV RTEL1:NM_001283010:exon31:c.A2457C:p.Q819H,RTEL1:NM_001283009:exon32:c.A3126C:p.Q1042H,RTEL1:NM_016434:exon32:c.A3126C:p.Q1042H,RTEL1:NM_032957:exon32:c.A3198C:p.Q1066H RS3208008 LDL cholesterol:Total cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression of TNFRSF6B [transcript NM_032945, probe A_23_P218646] in liver
20 62328375 2 TNFRSF6B A G exonic synonymous SNV TNFRSF6B:NM_003823:exon1:c.A255G:p.L85L
20 62340115 2 ZGPAT C G exonic nonsynonymous SNV ZGPAT:NM_001083113:exon2:c.C183G:p.S61R,ZGPAT:NM_001195653:exon2:c.C183G:p.S61R,ZGPAT:NM_001195654:exon2:c.C183G:p.S61R,ZGPAT:NM_032527:exon2:c.C183G:p.S61R,ZGPAT:NM_181485:exon2:c.C183G:p.S61R RS1291212 Serum creatinine:Systolic blood pressure (SBP):Diastolic blood pressure (DBP)
20 62372813 2 SLC2A4RG G A exonic synonymous SNV SLC2A4RG:NM_020062:exon3:c.G372A:p.P124P RS2427536 Schizophrenia:Serum creatinine:HDL cholesterol:Gene expression of EEF1A2 [probe ILMN_2929] in osteoblasts with treatment interaction:Gene expression of ZGPAT///RP4-583P15.5 in blood:Gene expression of RP4-583P15.5///SLC2A4RG in blood
20 62373707 2 SLC2A4RG G T exonic nonsynonymous SNV SLC2A4RG:NM_020062:exon6:c.G699T:p.E233D RS8957 LDL cholesterol:Microalbuminuria:Urinary albumin-to-creatinine ratio:Gene expression change of LIME1 (ENSG00000203896) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression change of ZGPAT (ENSG00000197114) in dendritic cells after treatment with Mycobacterium tuberculosis:Gene expression of SLC2A4RG (ENSG00000125520) in dendritic cells
20 62492922 1 ABHD16B T A exonic nonsynonymous SNV ABHD16B:NM_080622:exon1:c.T29A:p.L10Q
20 62493978 1 ABHD16B G A exonic nonsynonymous SNV ABHD16B:NM_080622:exon1:c.G1085A:p.R362Q
20 62494027 1 ABHD16B G C exonic synonymous SNV ABHD16B:NM_080622:exon1:c.G1134C:p.A378A RS2236152 Birth weight
20 62591460 1 ZNF512B G A exonic synonymous SNV ZNF512B:NM_020713:exon17:c.C2460T:p.P820P
20 62595169 1 ZNF512B A G exonic synonymous SNV ZNF512B:NM_020713:exon9:c.T1578C:p.L526L RS817325 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
20 62597694 1 ZNF512B T G exonic synonymous SNV ZNF512B:NM_020713:exon5:c.A834C:p.V278V RS817329 Differential exon level expression of [probeset 3914266] in peripheral blood mononuclear cells:Differential exon level expression of ZNF512B [probeset 3914253] in peripheral blood mononuclear cells:Differential exon level expression of [probeset 3914265] in peripheral blood mononuclear cells:Differential exon level expression of [probeset 3914265] in brain cortex:Differential exon level expression of ZNF512B [probeset 3914253] in brain cortex:Differential exon level expression of [probeset 3914266] in brain cortex:Total cholesterol:Neuroblastoma (brain cancer):Gene expression of UCKL1 in blood:Sporadic Creutzfeldt-Jakob disease:Transmission distortion
21 19169155 2 C21orf91 G C exonic nonsynonymous SNV C21orf91:NM_001100420:exon3:c.C408G:p.D136E,C21orf91:NM_001100421:exon3:c.C408G:p.D136E,C21orf91:NM_017447:exon3:c.C408G:p.D136E RS1047978 Simpson-Angus Scale:Total cholesterol:PROP taste detection threshold
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 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 33757947 1 URB1 A T exonic nonsynonymous SNV URB1:NM_014825:exon2:c.T189A:p.D63E
21 34614255 1 IFNAR2 T G exonic nonsynonymous SNV IFNAR2:NM_000874:exon2:c.T28G:p.F10V,IFNAR2:NM_001289125:exon2:c.T28G:p.F10V,IFNAR2:NM_001289126:exon2:c.T28G:p.F10V,IFNAR2:NM_001289128:exon2:c.T28G:p.F10V,IFNAR2:NM_207584:exon2:c.T28G:p.F10V,IFNAR2:NM_207585:exon2:c.T28G:p.F10V RS1051393 Parkinson's disease:Gene expression of IL10RB (probeID ILMN_2230892) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of IFNAR2 (probeID ILMN_1765146) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of IFNAR2 (probeID ILMN_1765146) in cerebellum in Alzheimer's disease cases and controls:Gene expression of IL10RB (probeID ILMN_2230892) in cerebellum in Alzheimer's disease cases and controls
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 34715699 2 IFNAR1 G C exonic nonsynonymous SNV IFNAR1:NM_000629:exon4:c.G502C:p.V168L RS2257167 Diastolic blood pressure (DBP)
21 34883618 1 GART T C exonic nonsynonymous SNV GART:NM_000819:exon17:c.A2255G:p.D752G,GART:NM_001136005:exon17:c.A2255G:p.D752G,GART:NM_001136006:exon17:c.A2255G:p.D752G RS8971 Spine bone mineral density (BMD):Alzheimer's disease:Late onset Alzheimer's disease:Gene expression of GART in blood:Gene expression of [probe 4480647 centered at chr21:33733423] in blood:Gene expression of IFNGR2 in blood:Years of education:College completion
21 34897113 1 GART C T exonic nonsynonymous SNV GART:NM_000819:exon11:c.G1261A:p.V421I,GART:NM_001136005:exon11:c.G1261A:p.V421I,GART:NM_001136006:exon11:c.G1261A:p.V421I,GART:NM_175085:exon11:c.G1261A:p.V421I RS8788 Years of education:College completion:Birth weight
21 34924243 1 SON T C exonic synonymous SNV SON:NM_001291411:exon3:c.T2706C:p.D902D,SON:NM_032195:exon3:c.T2706C:p.D902D,SON:NM_138927:exon3:c.T2706C:p.D902D
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 34925689 1 SON G A exonic synonymous SNV SON:NM_001291411:exon3:c.G4152A:p.L1384L,SON:NM_032195:exon3:c.G4152A:p.L1384L,SON:NM_138927:exon3:c.G4152A:p.L1384L
21 34926260 1 SON C T exonic nonsynonymous SNV SON:NM_001291411:exon3:c.C4723T:p.R1575C,SON:NM_032195:exon3:c.C4723T:p.R1575C,SON:NM_138927:exon3:c.C4723T:p.R1575C RS13047599 HDL cholesterol:Serum creatinine:Gene expression of TMEM50B in blood:Years of education:Birth weight:College completion
21 34945721 1 SON T C exonic synonymous SNV SON:NM_001291412:exon8:c.T1077C:p.N359N,SON:NM_138927:exon9:c.T6993C:p.N2331N
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 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 38525356 2 TTC3 T C exonic nonsynonymous SNV TTC3:NM_001330681:exon18:c.T1589C:p.M530T,TTC3:NM_001330682:exon18:c.T1589C:p.M530T,TTC3:NM_001001894:exon27:c.T2519C:p.M840T,TTC3:NM_001320703:exon27:c.T2585C:p.M862T,TTC3:NM_001320704:exon27:c.T2519C:p.M840T,TTC3:NM_001330683:exon27:c.T2519C:p.M840T,TTC3:NM_003316:exon27:c.T2519C:p.M840T RS1053808 Lp-PLA2 mass: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:Gene expression of PIGP (probeID ILMN_1774949) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of PIGP (probeID ILMN_1774949) in cerebellum in Alzheimer's disease cases and controls
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 38568308 2 TTC3 C T exonic synonymous SNV TTC3:NM_001330681:exon33:c.C4620T:p.H1540H,TTC3:NM_001330682:exon33:c.C4620T:p.H1540H,TTC3:NM_001001894:exon42:c.C5550T:p.H1850H,TTC3:NM_001330683:exon42:c.C5550T:p.H1850H,TTC3:NM_003316:exon42:c.C5550T:p.H1850H,TTC3:NM_001320703:exon43:c.C5670T:p.H1890H,TTC3:NM_001320704:exon43:c.C5604T:p.H1868H RS6579 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 Temporal cortex:Gene expression of DSCR5 in Caudal pons:Triglycerides:Height
21 40191431 1 ETS2 T G exonic synonymous SNV ETS2:NM_005239:exon8:c.T816G:p.T272T,ETS2:NM_001256295:exon9:c.T1236G:p.T412T RS457705 HDL cholesterol:Lung function, ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC)
21 40191638 1 ETS2 A G exonic synonymous SNV ETS2:NM_005239:exon8:c.A1023G:p.P341P,ETS2:NM_001256295:exon9:c.A1443G:p.P481P RS461155 HDL cholesterol:Lung function, ratio of forced expiratory volume in 1 second (FEV1) to forced vital capacity (FVC) (FEV1/FVC)
21 40552307 2 PSMG1 A G exonic synonymous SNV PSMG1:NM_001261824:exon3:c.T297C:p.A99A,PSMG1:NM_001320795:exon3:c.T36C:p.A12A,PSMG1:NM_003720:exon3:c.T297C:p.A99A,PSMG1:NM_203433:exon3:c.T297C:p.A99A RS3171465 Serum creatinine:Rheumatoid arthritis:Gene expression of BRWD1 in Frontal cortex:Gene expression of BRWD1 in Caudal pons:Gene expression of BRWD1 in Temporal cortex:Gene expression of BRWD1 in Cerebellum:Gene expression of BRWD1 [transcript NM_033656, probe A_24_P231025] in liver:Gene expression of BRWD1 (probeID ILMN_1801866) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of BRWD1 (probeID ILMN_1801866) in cerebellum in Alzheimer's disease cases and controls
21 40571246 2 BRWD1 A G exonic nonsynonymous SNV BRWD1:NM_018963:exon40:c.T5096C:p.L1699P,BRWD1:NM_033656:exon40:c.T5096C:p.L1699P RS1041439 Gene expression of C21orf107 in JPT lymphoblastoid cell lines:Triglycerides:LDL cholesterol:Gene expression of BRWD1 in blood:Gene expression of HMGN1 in blood:Refractive error:Gene expression of BRWD1 (probeID ILMN_1801866) in temporal cortex in Progressive Supranuclear Palsy cases:Gene expression of BRWD1 (probeID ILMN_1801866) in temporal cortex in Alzheimer's disease cases:Gene expression of BRWD1 (probeID ILMN_1801866) in cerebellum in non-Alzheimer's disease samples:Gene expression of BRWD1 (probeID ILMN_1801866) in temporal cortex in Alzheimer's disease cases and controls:Advanced age-related macular degeneration (geographic atrophy):Gene expression of BRWD1 (probeID ILMN_1801866) in cerebellum in Alzheimer's disease cases and controls:Gene expression of BRWD1 (probeID ILMN_1801866) in cerebellum in Alzheimer's disease cases:Gene expression of BRWD1 (probeID ILMN_1801866) in cerebellum in Progressive Supranuclear Palsy cases
21 40670460 2 BRWD1 G C exonic nonsynonymous SNV BRWD1:NM_001007246:exon5:c.C247G:p.Q83E,BRWD1:NM_018963:exon5:c.C247G:p.Q83E,BRWD1:NM_033656:exon5:c.C247G:p.Q83E RS2056844 Gene expression of C21orf107 in CEU-CHB-JPT lymphoblastoid cell lines:Gene expression of LOC400452 in CEU lymphoblastoid cell lines:Triglycerides:Serum creatinine:Gene expression of BRWD1 in Cerebellum:Gene expression of BRWD1 in Caudal pons:Gene expression of BRWD1 in Frontal cortex:Gene expression of BRWD1 in Temporal cortex:Total cholesterol:Triglycerides:Gene expression of HMGN1 (probeID ILMN_2151579) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of BRWD1 (probeID ILMN_1801866) in cerebellum in Alzheimer's disease cases and controls:Gene expression of HMGN1 (probeID ILMN_2151579) in cerebellum in Alzheimer's disease cases and controls:Gene expression of BRWD1 (probeID ILMN_1801866) in temporal cortex in Alzheimer's disease cases and controls
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 43162128 1 RIPK4 T G exonic nonsynonymous SNV RIPK4:NM_020639:exon8:c.A1225C:p.K409Q
21 43164232 2 RIPK4 C A exonic synonymous SNV RIPK4:NM_020639:exon7:c.G1005T:p.L335L
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 43239972 2 PRDM15 A G exonic synonymous SNV PRDM15:NM_001040424:exon18:c.T2337C:p.N779N,PRDM15:NM_001282934:exon19:c.T2397C:p.N799N,PRDM15:NM_022115:exon25:c.T3324C:p.N1108N
21 43327793 2 C2CD2 C T exonic synonymous SNV C2CD2:NM_199050:exon8:c.G654A:p.S218S,C2CD2:NM_015500:exon9:c.G1119A:p.S373S
21 44189166 1 PDE9A T C exonic synonymous SNV PDE9A:NM_001001580:exon11:c.T840C:p.P280P,PDE9A:NM_001001575:exon12:c.T1011C:p.P337P,PDE9A:NM_001001576:exon12:c.T840C:p.P280P,PDE9A:NM_001001569:exon13:c.T1107C:p.P369P,PDE9A:NM_001001572:exon13:c.T870C:p.P290P,PDE9A:NM_001001577:exon13:c.T1089C:p.P363P,PDE9A:NM_001001568:exon14:c.T1110C:p.P370P,PDE9A:NM_001001573:exon14:c.T870C:p.P290P,PDE9A:NM_001001578:exon14:c.T1185C:p.P395P,PDE9A:NM_001001579:exon14:c.T870C:p.P290P,PDE9A:NM_001001571:exon15:c.T1188C:p.P396P,PDE9A:NM_001001574:exon15:c.T1233C:p.P411P,PDE9A:NM_001001581:exon15:c.T1290C:p.P430P,PDE9A:NM_001001584:exon15:c.T870C:p.P290P,PDE9A:NM_001001585:exon15:c.T870C:p.P290P,PDE9A:NM_001001567:exon16:c.T1311C:p.P437P,PDE9A:NM_001001570:exon16:c.T1332C:p.P444P,PDE9A:NM_001001582:exon16:c.T1368C:p.P456P,PDE9A:NM_001001583:exon16:c.T1413C:p.P471P,PDE9A:NM_001315533:exon17:c.T1167C:p.P389P,PDE9A:NM_002606:exon17:c.T1491C:p.P497P
21 44189172 1 PDE9A A C exonic synonymous SNV PDE9A:NM_001001580:exon11:c.A846C:p.A282A,PDE9A:NM_001001575:exon12:c.A1017C:p.A339A,PDE9A:NM_001001576:exon12:c.A846C:p.A282A,PDE9A:NM_001001569:exon13:c.A1113C:p.A371A,PDE9A:NM_001001572:exon13:c.A876C:p.A292A,PDE9A:NM_001001577:exon13:c.A1095C:p.A365A,PDE9A:NM_001001568:exon14:c.A1116C:p.A372A,PDE9A:NM_001001573:exon14:c.A876C:p.A292A,PDE9A:NM_001001578:exon14:c.A1191C:p.A397A,PDE9A:NM_001001579:exon14:c.A876C:p.A292A,PDE9A:NM_001001571:exon15:c.A1194C:p.A398A,PDE9A:NM_001001574:exon15:c.A1239C:p.A413A,PDE9A:NM_001001581:exon15:c.A1296C:p.A432A,PDE9A:NM_001001584:exon15:c.A876C:p.A292A,PDE9A:NM_001001585:exon15:c.A876C:p.A292A,PDE9A:NM_001001567:exon16:c.A1317C:p.A439A,PDE9A:NM_001001570:exon16:c.A1338C:p.A446A,PDE9A:NM_001001582:exon16:c.A1374C:p.A458A,PDE9A:NM_001001583:exon16:c.A1419C:p.A473A,PDE9A:NM_001315533:exon17:c.A1173C:p.A391A,PDE9A:NM_002606:exon17:c.A1497C:p.A499A
21 44270229 1 WDR4 C T exonic nonsynonymous SNV WDR4:NM_001260474:exon11:c.G1166A:p.R389Q,WDR4:NM_001260475:exon11:c.G731A:p.R244Q,WDR4:NM_001260476:exon11:c.G731A:p.R244Q,WDR4:NM_001260477:exon11:c.G731A:p.R244Q,WDR4:NM_018669:exon11:c.G1169A:p.R390Q,WDR4:NM_033661:exon11:c.G1169A:p.R390Q RS6586250 Gene expression of NDUFV3 in CHB-JPT lymphoblastoid cell lines:Triglycerides:Partial epilepsy:Triglycerides:Asthma:Gene expression of AC127383.1 in blood:Gene expression of CBS in blood:Tetrology of fallot:Prostate cancer
21 44293744 1 WDR4 C G exonic nonsynonymous SNV WDR4:NM_001260474:exon3:c.G213C:p.K71N,WDR4:NM_018669:exon3:c.G213C:p.K71N,WDR4:NM_033661:exon3:c.G213C:p.K71N RS2248490 Tardive dyskinesia:Abnormal Involuntary Movement Scale:Triglycerides change with statins:Gene expression of WDR4 in peripheral blood monocytes:Triglycerides:Aortic valve calcium:Prostate cancer
21 44323590 1 NDUFV3 T G exonic synonymous SNV NDUFV3:NM_021075:exon3:c.T468G:p.S156S RS4148973 Triglycerides:HOMA-IR:Triglycerides:Sporadic Creutzfeldt-Jakob disease:Parkinson's disease:Aortic valve calcium
21 44324365 1 NDUFV3 G A exonic nonsynonymous SNV NDUFV3:NM_021075:exon3:c.G1243A:p.D415N RS10595 Birth weight
21 44837551 1 LOC102724428;SIK1 G A exonic synonymous SNV LOC102724428:NM_001320643:exon13:c.C1848T:p.P616P,SIK1:NM_173354:exon13:c.C1848T:p.P616P
21 44837555 2 LOC102724428;SIK1 G A exonic nonsynonymous SNV LOC102724428:NM_001320643:exon13:c.C1844T:p.A615V,SIK1:NM_173354:exon13:c.C1844T:p.A615V RS430554 Total cholesterol:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Advanced age-related macular degeneration:Adiponectin levels
21 45107518 2 RRP1B A G exonic synonymous SNV RRP1B:NM_015056:exon13:c.A1263G:p.P421P
21 45107562 1 RRP1B T C exonic nonsynonymous SNV RRP1B:NM_015056:exon13:c.T1307C:p.L436P
21 45168884 1 PDXK G A exonic synonymous SNV PDXK:NM_001331030:exon5:c.G267A:p.P89P,PDXK:NM_003681:exon6:c.G387A:p.P129P
21 45209559 1 RRP1 C T exonic synonymous SNV RRP1:NM_003683:exon1:c.C49T:p.L17L
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 45217929 2 RRP1 T C exonic synonymous SNV RRP1:NM_003683:exon8:c.T759C:p.G253G RS2838379 PROP taste detection threshold:Gene expression of CSTB (ENSG00000160213) in dendritic cells
21 45219524 2 RRP1 T C exonic synonymous SNV RRP1:NM_003683:exon9:c.T885C:p.V295V RS4566449 PROP taste detection threshold
21 45220483 1 RRP1 A G exonic nonsynonymous SNV RRP1:NM_003683:exon10:c.A977G:p.K326R RS915770 Irritible bowel syndrome:Body mass index (BMI):Gene expression of CSTB in blood:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Parkinson's disease:Paternal transmission distortion:Salmonella-induced pyroptosis:Transmission distortion:Advanced age-related macular degeneration:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD
21 45389034 1 AGPAT3 C T exonic synonymous SNV AGPAT3:NM_001037553:exon4:c.C384T:p.Y128Y,AGPAT3:NM_020132:exon5:c.C384T:p.Y128Y RS61737069 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
21 45479055 1 TRAPPC10 C T exonic synonymous SNV TRAPPC10:NM_003274:exon6:c.C750T:p.D250D RS2838475 Triglycerides:Gene expression of FOXC2 in peripheral blood monocytes:Partial epilepsy
21 45503121 1 TRAPPC10 G A exonic nonsynonymous SNV TRAPPC10:NM_001351709:exon7:c.G775A:p.V259M,TRAPPC10:NM_003274:exon14:c.G2176A:p.V726M RS2071152 Triglycerides:HDL cholesterol:Gene expression of C21orf33 in blood:PROP taste detection threshold:Gene expression of TRAPPC10 in normal prepouch ileum
21 45506819 1 TRAPPC10 T C exonic synonymous SNV TRAPPC10:NM_001351709:exon9:c.T1116C:p.A372A,TRAPPC10:NM_003274:exon16:c.T2517C:p.A839A RS1131999 Gene expression of TRAPPC10 in normal prepouch ileum
21 45528919 1 PWP2 G A exonic nonsynonymous SNV PWP2:NM_005049:exon2:c.G73A:p.D25N RS2020945 Gene expression of PWP2 [probe 209336_at] in lymphoblastoid cell lines:Gene expression of HSS00354734 in liver:Differential exon level expression of PWP2 [probe 3923518] in brain cortex:Total cholesterol change with statins:Gene expression of PWP2H [probe ILMN_28098] in untreated osteoblasts:Gene expression of C21orf33 in blood:PROP taste detection threshold:Gene expression of TRAPPC10 in normal prepouch ileum:Obesity with early age of onset (age >2)
21 45540919 1 PWP2 A G exonic synonymous SNV PWP2:NM_005049:exon13:c.A1572G:p.T524T RS2071143 Total cholesterol change with statins:PROP taste detection threshold
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 45553596 1 C21orf33 T C exonic nonsynonymous SNV C21orf33:NM_001320383:exon1:c.T17C:p.V6A,C21orf33:NM_001320384:exon1:c.T17C:p.V6A,C21orf33:NM_004649:exon1:c.T17C:p.V6A,C21orf33:NM_198155:exon1:c.T17C:p.V6A RS968714 Total cholesterol change with statins:PROP taste detection threshold
21 45876716 1 LRRC3 G A exonic synonymous SNV LRRC3:NM_030891:exon2:c.G189A:p.P63P
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 46311813 2 ITGB2 A G exonic synonymous SNV ITGB2:NM_000211:exon11:c.T1323C:p.V441V,ITGB2:NM_001127491:exon11:c.T1323C:p.V441V,ITGB2:NM_001303238:exon11:c.T1116C:p.V372V RS235326 Eye color:Longstanding arthritis:HDL cholesterol:LDL cholesterol:Differential exon level expression of ITGB2 [probe 3934743] in peripheral blood mononuclear cells:HDL cholesterol:Gene expression of PTTG1IP in blood:Tetrology of fallot:Advanced age-related macular degeneration:Salmonella-induced pyroptosis
21 46313442 1 ITGB2 G T exonic synonymous SNV ITGB2:NM_000211:exon10:c.C1101A:p.V367V,ITGB2:NM_001127491:exon10:c.C1101A:p.V367V,ITGB2:NM_001303238:exon10:c.C894A:p.V298V
21 46314907 2 ITGB2 T A exonic nonsynonymous SNV ITGB2:NM_000211:exon9:c.A1062T:p.Q354H,ITGB2:NM_001127491:exon9:c.A1062T:p.Q354H,ITGB2:NM_001303238:exon9:c.A855T:p.Q285H
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 46899842 1 COL18A1 C T exonic synonymous SNV COL18A1:NM_030582:exon9:c.C1815T:p.P605P,COL18A1:NM_130444:exon9:c.C2520T:p.P840P,COL18A1:NM_130445:exon10:c.C1275T:p.P425P
21 46910210 1 COL18A1 G A exonic nonsynonymous SNV COL18A1:NM_030582:exon19:c.G2521A:p.V841I,COL18A1:NM_130444:exon19:c.G3226A:p.V1076I,COL18A1:NM_130445:exon20:c.G1981A:p.V661I
21 46911188 1 COL18A1 C G exonic nonsynonymous SNV COL18A1:NM_030582:exon21:c.C2657G:p.P886R,COL18A1:NM_130444:exon21:c.C3362G:p.P1121R,COL18A1:NM_130445:exon22:c.C2117G:p.P706R
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 46951556 1 SLC19A1 A G exonic synonymous SNV SLC19A1:NM_001205207:exon2:c.T576C:p.P192P,SLC19A1:NM_001205206:exon3:c.T696C:p.P232P,SLC19A1:NM_194255:exon3:c.T696C:p.P232P
21 46957794 1 SLC19A1 T C exonic nonsynonymous SNV SLC19A1:NM_001205206:exon2:c.A80G:p.H27R,SLC19A1:NM_194255:exon2:c.A80G:p.H27R RS1051266 Stabilized warfarin dose:Atopy:Gene expression of COL18A1 [transcript NM_030582, probe A_23_P211212] in liver:Obesity with early age of onset (age >2)
21 47558473 1 FTCD G C exonic synonymous SNV FTCD:NM_001320412:exon12:c.C1392G:p.A464A,FTCD:NM_006657:exon12:c.C1392G:p.A464A,FTCD:NM_206965:exon12:c.C1392G:p.A464A
21 47558552 1 FTCD G A exonic nonsynonymous SNV FTCD:NM_001320412:exon12:c.C1313T:p.A438V,FTCD:NM_006657:exon12:c.C1313T:p.A438V,FTCD:NM_206965:exon12:c.C1313T:p.A438V
21 47676711 2 MCM3AP G A exonic synonymous SNV MCM3AP:NM_003906:exon17:c.C3924T:p.S1308S RS2839173 Triglycerides:Gene expression of MCM3APAS (probeID ILMN_2065822) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MCM3AP in normal prepouch ileum:Gene expression of MCM3AP-AS1 in normal prepouch ileum:Gene expression of YBEY in normal prepouch ileum:Gene expression of MCM3APAS (probeID ILMN_2065822) in temporal cortex in Alzheimer's disease cases and controls
21 47685939 2 MCM3AP A G exonic synonymous SNV MCM3AP:NM_003906:exon11:c.T2931C:p.H977H RS2839181 HDL cholesterol change with statins:Triglycerides:Gene expression of C21orf57 (probeID ILMN_2411127) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MCM3AP-AS1 in normal prepouch ileum:Gene expression of C21orf56 (probeID ILMN_1716838) 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:Gene expression of C21orf57 (probeID ILMN_1765328) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MCM3APAS (probeID ILMN_2065822) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of C21orf56 (probeID ILMN_1716838) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C21orf57 (probeID ILMN_1656297) in cerebellum in Alzheimer's disease cases and controls:Gene expression of MCM3AP (ENSG00000160294) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of YBEY in normal prepouch ileum:Gene expression of C21orf57 (probeID ILMN_1765328) in temporal cortex 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 MCM3APAS (probeID ILMN_2065822) in cerebellum in Alzheimer's disease cases and controls:Infant head circumference
21 47734659 2 C21orf58 G A exonic nonsynonymous SNV C21orf58:NM_001286463:exon4:c.C262T:p.P88S,C21orf58:NM_001286462:exon5:c.C262T:p.P88S,C21orf58:NM_001286476:exon5:c.C262T:p.P88S,C21orf58:NM_001286477:exon5:c.C262T:p.P88S,C21orf58:NM_058180:exon5:c.C580T:p.P194S
21 47777063 2 PCNT G A exonic nonsynonymous SNV PCNT:NM_001315529:exon13:c.G1757A:p.G586E,PCNT:NM_006031:exon13:c.G2111A:p.G704E
21 47783796 2 PCNT T C exonic synonymous SNV PCNT:NM_001315529:exon14:c.T2202C:p.A734A,PCNT:NM_006031:exon14:c.T2556C:p.A852A
21 47786817 2 PCNT C G exonic synonymous SNV PCNT:NM_001315529:exon15:c.C2574G:p.L858L,PCNT:NM_006031:exon15:c.C2928G:p.L976L RS2839228 Gene expression of C21orf57 [probe 227421_at] in lymphoblastoid cell lines:Chronic kidney disease:HDL cholesterol:LDL cholesterol:Gene expression of C21orf57 (probeID ILMN_1656297) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C21orf57 (probeID ILMN_2411127) in cerebellum in Alzheimer's disease cases and controls:Gene expression of C21orf57 (probeID ILMN_1656297) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of C21orf57 (probeID ILMN_2411127) in temporal cortex in Alzheimer's disease cases and controls
21 47970581 2 DIP2A G A exonic synonymous SNV DIP2A:NM_001146116:exon23:c.G2751A:p.T917T,DIP2A:NM_015151:exon23:c.G2763A:p.T921T RS2255397 Gene expression of C21orf56 [probe 223360_at] in lymphoblastoid cell lines:Stabilized warfarin dose:Irritible bowel syndrome:Gene expression of SMC6 in peripheral blood monocytes:Gene expression of PRMT2 in peripheral blood monocytes:Partial epilepsy:Gene expression of DIP2A in blood:Gene expression of PRMT2 in blood:Advanced age-related macular degeneration (geographic atrophy):Gene expression change of DIP2A (ENSG00000160305) in dendritic cells after treatment with Mycobacterium tuberculosis:Birth weight:Tetrology of fallot:Advanced age-related macular degeneration
21 47974582 2 DIP2A A G exonic synonymous SNV DIP2A:NM_001146116:exon27:c.A3237G:p.T1079T,DIP2A:NM_015151:exon27:c.A3249G:p.T1083T
21 48063476 2 PRMT2 C G exonic synonymous SNV PRMT2:NM_001242864:exon3:c.C69G:p.A23A,PRMT2:NM_001242865:exon3:c.C69G:p.A23A,PRMT2:NM_001242866:exon3:c.C69G:p.A23A,PRMT2:NM_001286676:exon3:c.C69G:p.A23A,PRMT2:NM_001286677:exon3:c.C69G:p.A23A,PRMT2:NM_001286678:exon3:c.C69G:p.A23A,PRMT2:NM_001535:exon3:c.C69G:p.A23A,PRMT2:NM_206962:exon4:c.C69G:p.A23A
22 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 18300240 2 MICAL3 T C exonic synonymous SNV MICAL3:NM_015241:exon26:c.A5187G:p.L1729L RS5992854 Triglycerides:Years of education:Aortic valve calcium:Mitral annular calcium
22 18304821 2 MICAL3 G A exonic synonymous SNV MICAL3:NM_015241:exon24:c.C3423T:p.P1141P
22 18304891 2 MICAL3 C T exonic nonsynonymous SNV MICAL3:NM_015241:exon24:c.G3353A:p.R1118H
22 19026613 2 DGCR2 A G exonic nonsynonymous SNV DGCR2:NM_001173533:exon9:c.T1295C:p.V432A,DGCR2:NM_001173534:exon9:c.T1286C:p.V429A,DGCR2:NM_001184781:exon10:c.T1409C:p.V470A,DGCR2:NM_005137:exon10:c.T1418C:p.V473A RS2072123 Differential exon level expression of DGCR2 [probe 3952460] in brain cortex:Differential exon level expression of DGCR2 [probe 3952460] in peripheral blood mononuclear cells:Gene expression of DGCR2 [probe 3952453] in peripheral blood mononuclear cells:Serum creatinine:Asthma:Waist hip ratio:Gene expression of DGCR2 in blood:Gene expression of DGCR11 [probeset 215725_at] in sputum:Bipolar disorder
22 19122665 2 DGCR14 C T exonic synonymous SNV DGCR14:NM_022719:exon9:c.G1059A:p.E353E
22 19165478 2 SLC25A1 A G exonic synonymous SNV SLC25A1:NM_001256534:exon2:c.T300C:p.G100G,SLC25A1:NM_005984:exon3:c.T279C:p.G93G RS2070255 HDL cholesterol:Refractive error
22 19170956 2 CLTCL1 C T exonic nonsynonymous SNV CLTCL1:NM_001835:exon29:c.G4603A:p.V1535M,CLTCL1:NM_007098:exon30:c.G4774A:p.V1592M RS2073738 Total cholesterol:Body mass index (BMI)
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 19230365 2 CLTCL1 T C exonic nonsynonymous SNV CLTCL1:NM_001835:exon4:c.A614G:p.K205R,CLTCL1:NM_007098:exon4:c.A614G:p.K205R RS5746697 Body mass index (BMI)
22 19263214 2 CLTCL1 G A exonic nonsynonymous SNV CLTCL1:NM_001835:exon2:c.C182T:p.P61L,CLTCL1:NM_007098:exon2:c.C182T:p.P61L RS3747059 Body mass index (BMI)
22 19468514 2 CDC45 T C exonic synonymous SNV CDC45:NM_001178010:exon3:c.T150C:p.V50V,CDC45:NM_001178011:exon3:c.T150C:p.V50V,CDC45:NM_003504:exon3:c.T150C:p.V50V
22 19868218 2 TXNRD2 A G exonic unknown UNKNOWN RS1139793 Barnes Akathisia Rating Scale
22 19882984 2 TXNRD2 T G exonic nonsynonymous SNV TXNRD2:NM_001282512:exon11:c.A895C:p.S299R RS5992495 Schizophrenia:Fasting blood glucose:Asthma:Lp-PLA2 activity:College completion
22 19906511 2 TXNRD2 G A exonic synonymous SNV TXNRD2:NM_001282512:exon4:c.C246T:p.L82L RS11541479 Variant Creutzfeldt-Jakob disease:Gene expression of ARVCF (ENSG00000099889) in dendritic cells treated with Mycobacterium tuberculosis:Refractive error:Gene expression of COMT (ENSG00000093010) in dendritic cells:Birth weight
22 19950235 2 COMT C T exonic synonymous SNV COMT:NM_007310:exon1:c.C36T:p.H12H,COMT:NM_000754:exon3:c.C186T:p.H62H,COMT:NM_001135161:exon3:c.C186T:p.H62H,COMT:NM_001135162:exon3:c.C186T:p.H62H RS4633 Coronary artery disease (CAD):Irritible bowel syndrome:Simpson-Angus Scale:Major depressive disorder (broad definition):Major depressive disorder (narrow definition):Recurrent early onset major depressive disorder (broad definition):Recurrent early onset major depressive disorder (narrow definition):Serum creatinine:Total cholesterol:Triglycerides:Systolic blood pressure (SBP):Coronary artery disease (CAD)
22 19951271 2 COMT G A exonic nonsynonymous SNV COMT:NM_007310:exon2:c.G322A:p.V108M,COMT:NM_000754:exon4:c.G472A:p.V158M,COMT:NM_001135161:exon4:c.G472A:p.V158M,COMT:NM_001135162:exon4:c.G472A:p.V158M RS4680 Simpson-Angus Scale:Serum creatinine:Total cholesterol:Triglycerides:Height:Longevity:Systolic blood pressure (SBP):Attention-deficit/hyperactivity disorder (ADHD) in adolescents:Coronary artery disease (CAD)
22 19959473 2 ARVCF C T exonic nonsynonymous SNV ARVCF:NM_001670:exon18:c.G2717A:p.R906Q RS165815 Simpson-Angus Scale:Gene expression of GNB1L in blood:Advanced age-related macular degeneration:Change in depression severity with Norepinephrine reuptake inhibitors (NRI)
22 19968971 2 ARVCF G A exonic nonsynonymous SNV ARVCF:NM_001670:exon5:c.C659T:p.P220L RS2073748 Autism with low IQ
22 19969075 2 ARVCF A G exonic synonymous SNV ARVCF:NM_001670:exon5:c.T555C:p.S185S RS2073747 HOMA-IR:Serum creatinine:Total cholesterol:Systolic blood pressure (SBP)
22 19969106 2 ARVCF A G exonic nonsynonymous SNV ARVCF:NM_001670:exon5:c.T524C:p.V175A RS2240717 Systolic blood pressure (SBP):Coronary artery disease (CAD):Advanced age-related macular degeneration (geographic atrophy)
22 20074785 2 DGCR8 C T exonic nonsynonymous SNV DGCR8:NM_001190326:exon3:c.C821T:p.P274L,DGCR8:NM_022720:exon3:c.C821T:p.P274L
22 21088806 1 PI4KA C T exonic synonymous SNV PI4KA:NM_058004:exon33:c.G3777A:p.T1259T
22 21134023 2 SERPIND1 G A exonic synonymous SNV SERPIND1:NM_000185:exon2:c.G423A:p.L141L
22 21213416 2 SNAP29 A G exonic synonymous SNV SNAP29:NM_004782:exon1:c.A18G:p.K6K RS1061064 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
22 21330787 2 AIFM3 C T exonic synonymous SNV AIFM3:NM_001018060:exon11:c.C990T:p.A330A,AIFM3:NM_001146288:exon11:c.C1008T:p.A336A,AIFM3:NM_144704:exon11:c.C990T:p.A330A
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 22277571 2 PPM1F A C exonic nonsynonymous SNV PPM1F:NM_014634:exon8:c.T1259G:p.L420R
22 23627369 2 BCR A G exonic nonsynonymous SNV BCR:NM_004327:exon10:c.A2387G:p.N796S,BCR:NM_021574:exon10:c.A2387G:p.N796S RS140504 Delayed Story Recall:LDL cholesterol:Gene expression of RAB36 in blood:Aortic valve calcium:Adiponectin levels:Salmonella-induced pyroptosis
22 24108412 2 CHCHD10 G A exonic synonymous SNV CHCHD10:NM_001301339:exon3:c.C333T:p.Y111Y,CHCHD10:NM_213720:exon3:c.C312T:p.Y104Y RS9153 Gene expression of VPREB3 (probeID ILMN_1700147) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of VPREB3 (probeID ILMN_1700147) in cerebellum in Alzheimer's disease cases and controls
22 24459438 2 CABIN1 T C exonic synonymous SNV CABIN1:NM_001201429:exon13:c.T1563C:p.C521C,CABIN1:NM_001199281:exon14:c.T1713C:p.C571C,CABIN1:NM_012295:exon14:c.T1713C:p.C571C RS762273 Obesity with early age of onset (age >2):Amyotrophic lateral sclerosis (ALS)
22 24581145 2 SUSD2 C T exonic nonsynonymous SNV SUSD2:NM_019601:exon6:c.C866T:p.A289V
22 24717850 2 SPECC1L A G exonic nonsynonymous SNV SPECC1L:NM_001145468:exon4:c.A902G:p.D301G,SPECC1L:NM_001254732:exon4:c.A902G:p.D301G,SPECC1L:NM_015330:exon5:c.A902G:p.D301G RS204710 Prostate cancer
22 24761467 2 SPECC1L G A exonic nonsynonymous SNV SPECC1L:NM_001254733:exon5:c.G49A:p.V17M,SPECC1L:NM_001145468:exon12:c.G2851A:p.V951M,SPECC1L:NM_001254732:exon12:c.G2851A:p.V951M,SPECC1L:NM_015330:exon13:c.G2851A:p.V951M RS204718 Prostate cancer
22 24837301 2 ADORA2A T C exonic synonymous SNV ADORA2A:NM_000675:exon3:c.T1083C:p.Y361Y,ADORA2A:NM_001278498:exon3:c.T1083C:p.Y361Y,ADORA2A:NM_001278499:exon3:c.T1083C:p.Y361Y,ADORA2A:NM_001278500:exon3:c.T1083C:p.Y361Y,ADORA2A:NM_001278497:exon4:c.T1083C:p.Y361Y
22 24964128 2 SNRPD3 T C exonic synonymous SNV SNRPD3:NM_001278656:exon3:c.T303C:p.A101A,SNRPD3:NM_004175:exon3:c.T303C:p.A101A
22 24988920 2 LRRC75B C T exonic synonymous SNV LRRC75B:NM_207644:exon1:c.G87A:p.E29E
22 25019155 2 GGT1 T C exonic nonsynonymous SNV GGT1:NM_001288833:exon10:c.T815C:p.V272A,GGT1:NM_013430:exon10:c.T815C:p.V272A,GGT1:NM_013421:exon11:c.T815C:p.V272A
22 25425340 2 KIAA1671 T C exonic synonymous SNV KIAA1671:NM_001145206:exon1:c.T1374C:p.S458S
22 25436904 2 KIAA1671 T C exonic synonymous SNV KIAA1671:NM_001145206:exon3:c.T3807C:p.N1269N RS1040421 APOA2 (apolipoprotein AII):Waist hip ratio
22 25753321 2 LRP5L G A exonic synonymous SNV LRP5L:NM_182492:exon2:c.C339T:p.R113R,LRP5L:NM_001135772:exon4:c.C339T:p.R113R RS9624807 LDL cholesterol:HDL cholesterol change with statins:Total cholesterol:LDL cholesterol:College completion:Mitral annular calcium:Refractive error
22 26853905 2 HPS4 C A exonic nonsynonymous SNV HPS4:NM_152841:exon11:c.G1860T:p.Q620H,HPS4:NM_001349896:exon13:c.G1875T:p.Q625H,HPS4:NM_001349899:exon13:c.G1875T:p.Q625H,HPS4:NM_001349904:exon13:c.G1875T:p.Q625H,HPS4:NM_001349905:exon13:c.G1875T:p.Q625H,HPS4:NM_022081:exon13:c.G1875T:p.Q625H,HPS4:NM_001349898:exon14:c.G1875T:p.Q625H,HPS4:NM_001349900:exon14:c.G1929T:p.Q643H,HPS4:NM_001349901:exon14:c.G1929T:p.Q643H RS1894704 Schizophrenia:Total cholesterol:Serum creatinine:Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease:Age at death with kuru exposure:Advanced age-related macular degeneration (geographic atrophy)
22 26854441 2 HPS4 G A exonic nonsynonymous SNV HPS4:NM_152841:exon10:c.C1801T:p.H601Y,HPS4:NM_001349896:exon12:c.C1816T:p.H606Y,HPS4:NM_001349899:exon12:c.C1816T:p.H606Y,HPS4:NM_001349904:exon12:c.C1816T:p.H606Y,HPS4:NM_001349905:exon12:c.C1816T:p.H606Y,HPS4:NM_022081:exon12:c.C1816T:p.H606Y,HPS4:NM_001349898:exon13:c.C1816T:p.H606Y,HPS4:NM_001349900:exon13:c.C1870T:p.H624Y,HPS4:NM_001349901:exon13:c.C1870T:p.H624Y RS1894706 Schizophrenia:Total cholesterol:Serum creatinine:Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease:Age at death with kuru exposure:Advanced age-related macular degeneration (geographic atrophy)
22 26859942 2 HPS4 C T exonic nonsynonymous SNV HPS4:NM_152841:exon9:c.G1639A:p.V547M,HPS4:NM_001349896:exon11:c.G1654A:p.V552M,HPS4:NM_001349899:exon11:c.G1654A:p.V552M,HPS4:NM_001349902:exon11:c.G1654A:p.V552M,HPS4:NM_001349903:exon11:c.G1654A:p.V552M,HPS4:NM_001349904:exon11:c.G1654A:p.V552M,HPS4:NM_001349905:exon11:c.G1654A:p.V552M,HPS4:NM_022081:exon11:c.G1654A:p.V552M,HPS4:NM_001349898:exon12:c.G1654A:p.V552M,HPS4:NM_001349900:exon12:c.G1708A:p.V570M,HPS4:NM_001349901:exon12:c.G1708A:p.V570M RS5752330 Gene expression of CTB-1048E9.9///TFIP11 in blood:Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease
22 26884039 2 SRRD G A exonic nonsynonymous SNV SRRD:NM_001013694:exon3:c.G295A:p.A99T RS4820682 Stabilized warfarin dose:Gene expression of CTB-1048E9.9///TFIP11 in blood:Comorbid depressive syndrome and alcohol dependence:Sporadic Creutzfeldt-Jakob disease
22 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 28378688 2 TTC28 C G exonic nonsynonymous SNV TTC28:NM_001145418:exon23:c.G6967C:p.A2323P RS9613558 Allele-specific Expression Patterns in human glioblastoma cell line U87MG
22 29446611 2 ZNRF3 A C exonic synonymous SNV ZNRF3:NM_001206998:exon8:c.A2442C:p.P814P,ZNRF3:NM_032173:exon8:c.A2142C:p.P714P
22 29656389 2 RHBDD3 G T exonic synonymous SNV RHBDD3:NM_001329536:exon6:c.C909A:p.A303A,RHBDD3:NM_012265:exon6:c.C909A:p.A303A
22 29704125 2 GAS2L1 C T exonic synonymous SNV GAS2L1:NM_001278730:exon2:c.C30T:p.G10G
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 29908072 2 THOC5 C T exonic nonsynonymous SNV THOC5:NM_001002879:exon18:c.G1735A:p.V579I,THOC5:NM_003678:exon18:c.G1735A:p.V579I,THOC5:NM_001002877:exon19:c.G1735A:p.V579I,THOC5:NM_001002878:exon19:c.G1735A:p.V579I RS1049534 Fasting insulin:HOMA-IR:HOMA-B:Gene expression of THOC5 (ENSG00000100296) in dendritic cells treated with Mycobacterium tuberculosis
22 29913272 2 THOC5 C T exonic nonsynonymous SNV THOC5:NM_001002879:exon16:c.G1573A:p.V525I,THOC5:NM_003678:exon16:c.G1573A:p.V525I,THOC5:NM_001002877:exon17:c.G1573A:p.V525I,THOC5:NM_001002878:exon17:c.G1573A:p.V525I RS737976 Hip bone mineral density (BMD):Simpson-Angus Scale:Triglycerides change with statins:Body mass index (BMI):Gene expression of NIPSNAP1 in blood:Gene expression of THOC5 in blood:Gene expression of NIPSNAP1 (ENSG00000184117) in dendritic cells treated with Mycobacterium tuberculosis:Gene expression of THOC5 in normal prepouch ileum:Years of education:Endometriosis
22 30688659 2 TBC1D10A C T exonic nonsynonymous SNV TBC1D10A:NM_001204240:exon9:c.G1253A:p.R418H,TBC1D10A:NM_031937:exon9:c.G1232A:p.R411H RS4823086 Serum creatinine:Autism:Diastolic blood pressure (DBP)
22 30733111 2 SF3A1 C A exonic synonymous SNV SF3A1:NM_005877:exon13:c.G2010T:p.V670V
22 30776095 2 RNF215 C T exonic nonsynonymous SNV RNF215:NM_001017981:exon7:c.G964A:p.A322T RS5749088 Autism:Total cholesterol:Waist hip ratio:Parkinson's disease
22 30953295 2 GAL3ST1 C T exonic nonsynonymous SNV GAL3ST1:NM_001318103:exon2:c.G85A:p.V29M,GAL3ST1:NM_001318105:exon2:c.G85A:p.V29M,GAL3ST1:NM_001318109:exon2:c.G160A:p.V54M,GAL3ST1:NM_001318111:exon2:c.G85A:p.V29M,GAL3ST1:NM_001318112:exon2:c.G85A:p.V29M,GAL3ST1:NM_001318114:exon2:c.G85A:p.V29M,GAL3ST1:NM_001318104:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318106:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318107:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318108:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318110:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318113:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318115:exon3:c.G85A:p.V29M,GAL3ST1:NM_004861:exon3:c.G85A:p.V29M,GAL3ST1:NM_001318116:exon4:c.G85A:p.V29M RS2267161 Spine bone mineral density (BMD):Premature ovarian failure:Total cholesterol change with statins:LDL cholesterol change with statins:Gene expression of TCN2 in peripheral blood monocytes:Gene expression of SEC14L3 [probe ILMN_24718] in osteoblasts treated with pge-2:Late onset Alzheimer's disease:Gene expression of SLC35E4///DUSP18 in blood:Gene expression of TCN2 in blood:Sporadic Creutzfeldt-Jakob disease:Amyotrophic lateral sclerosis (ALS)
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 31663842 2 LIMK2 C G exonic synonymous SNV LIMK2:NM_001031801:exon9:c.C1146G:p.L382L,LIMK2:NM_016733:exon9:c.C1146G:p.L382L,LIMK2:NM_005569:exon10:c.C1209G:p.L403L
22 31673092 1 LIMK2 C G exonic nonsynonymous SNV LIMK2:NM_001031801:exon15:c.C2027G:p.A676G
22 31679110 2 PIK3IP1 G C exonic nonsynonymous SNV PIK3IP1:NM_052880:exon6:c.C752G:p.T251S RS2040533 HOMA-IR:Fasting insulin:College completion
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 31998612 2 SFI1 G A exonic nonsynonymous SNV SFI1:NM_001258325:exon15:c.G1481A:p.R494Q,SFI1:NM_001258326:exon15:c.G1400A:p.R467Q,SFI1:NM_001258327:exon15:c.G1400A:p.R467Q,SFI1:NM_014775:exon16:c.G1553A:p.R518Q,SFI1:NM_001007467:exon17:c.G1646A:p.R549Q RS2006771 Fasting blood glucose:HOMA-IR:Waist hip ratio:Gene expression of SFI1///PISD in blood:Gene expression of PISD in blood:Gene expression of SFI1 in blood:Primary rhegmatogenous retinal detachment
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 33253280 2 TIMP3 T C exonic synonymous SNV TIMP3:NM_000362:exon3:c.T249C:p.H83H RS9862 Triglycerides:Partial epilepsy
22 35660875 2 HMGXB4 G T exonic nonsynonymous SNV HMGXB4:NM_001003681:exon5:c.G494T:p.G165V RS1053593 Spine bone mineral density (BMD):Hip bone mineral density (BMD):Differential exon level expression of HMG2L1 [probe 3944078] in brain cortex:Differential exon level expression of HMG2L1 [probe 3944054] in brain cortex:Differential exon level expression of HMG2L1 [probe 3944052] in brain cortex:Gene expression of HMG2L1 [probe 3944046] in brain cortex:Fasting insulin:HOMA-IR:Fasting blood glucose:LDL cholesterol:Triglycerides:Total cholesterol:Waist hip ratio:Gene expression of TOM1 in blood:Diastolic blood pressure (DBP):Systolic blood pressure (SBP):Comorbid depressive syndrome and alcohol dependence
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 36702015 2 MYH9 C T exonic nonsynonymous SNV MYH9:NM_002473:exon17:c.G2120A:p.G707D
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 37462173 2 TMPRSS6 C T exonic nonsynonymous SNV TMPRSS6:NM_001289001:exon18:c.G2356A:p.V786I,TMPRSS6:NM_153609:exon18:c.G2383A:p.V795I,TMPRSS6:NM_001289000:exon19:c.G2422A:p.V808I
22 37471290 2 TMPRSS6 G A exonic synonymous SNV TMPRSS6:NM_001289000:exon11:c.C1227T:p.Y409Y,TMPRSS6:NM_001289001:exon11:c.C1227T:p.Y409Y,TMPRSS6:NM_153609:exon11:c.C1254T:p.Y418Y
22 37499386 2 TMPRSS6 C T exonic synonymous SNV TMPRSS6:NM_001289000:exon2:c.G72A:p.P24P,TMPRSS6:NM_001289001:exon2:c.G72A:p.P24P,TMPRSS6:NM_153609:exon2:c.G99A:p.P33P RS11704654 Mitral annular calcium
22 37581422 2 C1QTNF6 G C exonic nonsynonymous SNV C1QTNF6:NM_031910:exon2:c.C125G:p.P42R,C1QTNF6:NM_182486:exon2:c.C125G:p.P42R RS229526 Triglycerides change with statins:Gene expression of C1QTNF6 in peripheral blood monocytes:Body mass index (BMI):Type 1 diabetes:Adiponectin levels:Hypothyroidism
22 38051493 2 SH3BP1 G T exonic synonymous SNV SH3BP1:NM_018957:exon18:c.G1908T:p.R636R
22 38204089 2 GCAT C T exonic nonsynonymous SNV GCAT:NM_001171690:exon1:c.C115T:p.R39C,GCAT:NM_014291:exon1:c.C115T:p.R39C RS710187 Total cholesterol change with statins:Total cholesterol:LDL cholesterol:Height:Parkinson's disease
22 38506509 2 BAIAP2L2 A G exonic synonymous SNV BAIAP2L2:NM_025045:exon1:c.T24C:p.F8F
22 38877461 2 KDELR3 T G exonic nonsynonymous SNV KDELR3:NM_006855:exon4:c.T596G:p.V199G,KDELR3:NM_016657:exon4:c.T596G:p.V199G RS12004 Gene expression of TOMM22 in abdominal adipose
22 39069181 2 CBY1 T C exonic synonymous SNV CBY1:NM_015373:exon5:c.T321C:p.A107A,CBY1:NM_001002880:exon6:c.T450C:p.A150A RS3747174 LDL cholesterol change with statins:Rheumatoid arthritis:Triglycerides:Height:Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD:Allele-specific Expression Patterns in human glioblastoma cell line U87MG
22 39134715 2 SUN2 T C exonic synonymous SNV SUN2:NM_001199579:exon16:c.A1887G:p.Q629Q,SUN2:NM_015374:exon16:c.A1824G:p.Q608Q,SUN2:NM_001199580:exon17:c.A1824G:p.Q608Q
22 39178701 2 DNAL4 A G exonic synonymous SNV DNAL4:NM_005740:exon2:c.T36C:p.D12D RS760482 LDL cholesterol:Rheumatoid arthritis:Gene expression of CBX6 in peripheral blood monocytes
22 39222652 2 NPTXR G A exonic synonymous SNV NPTXR:NM_014293:exon3:c.C951T:p.Y317Y RS5757299 Rheumatoid arthritis:Gene expression of CBX6 in peripheral blood monocytes:Total cholesterol
22 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 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 42059768 2 XRCC6 G T exonic synonymous SNV XRCC6:NM_001288978:exon12:c.G1629T:p.G543G,XRCC6:NM_001288976:exon13:c.G1779T:p.G593G,XRCC6:NM_001288977:exon13:c.G1656T:p.G552G,XRCC6:NM_001469:exon13:c.G1779T:p.G593G RS132788 Total cholesterol:Chronic kidney disease:Birth weight
22 42089623 2 C22orf46 T C exonic nonsynonymous SNV C22orf46:NM_001142964:exon2:c.T373C:p.W125R
22 42274034 2 SREBF2 G T exonic synonymous SNV SREBF2:NM_004599:exon9:c.G1668T:p.L556L
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 42912097 2 RRP7A C T exonic nonsynonymous SNV RRP7A:NM_015703:exon3:c.G262A:p.V88I RS11553441 Chronic kidney disease:Gene expression of SERHL (probeID ILMN_2289840) in cerebellum in Alzheimer's disease cases and controls:Gene expression of SERHL (probeID ILMN_2289840) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of RRP7A (probeID ILMN_1688178) in temporal cortex in Alzheimer's disease cases and controls:Gene expression of RRP7A (probeID ILMN_1688178) in cerebellum in Alzheimer's disease cases and controls
22 43195147 2 ARFGAP3 A G exonic synonymous SNV ARFGAP3:NM_001142293:exon14:c.T1299C:p.S433S,ARFGAP3:NM_014570:exon15:c.T1431C:p.S477S
22 43203137 2 ARFGAP3 C T exonic synonymous SNV ARFGAP3:NM_001142293:exon13:c.G1221A:p.S407S,ARFGAP3:NM_014570:exon14:c.G1353A:p.S451S RS738535 Gene expression of PACSIN2 [probe 1554691_a_at] in lymphoblastoid cell lines:Differential exon level expression of ARFGAP3 [probe 3962619] in brain cortex:Differential exon level expression of ARFGAP3 [probe 3962619] in peripheral blood mononuclear cells:Height:Gene expression of PACSIN2 in blood:Gene expression of ARFGAP3 in blood:Birth weight:College completion
22 43278220 2 PACSIN2 C T exonic synonymous SNV PACSIN2:NM_001349974:exon6:c.G753A:p.P251P,PACSIN2:NM_001184970:exon7:c.G876A:p.P292P,PACSIN2:NM_001184971:exon7:c.G876A:p.P292P,PACSIN2:NM_001349968:exon7:c.G876A:p.P292P,PACSIN2:NM_001349969:exon7:c.G876A:p.P292P,PACSIN2:NM_001349970:exon7:c.G876A:p.P292P,PACSIN2:NM_001349971:exon7:c.G876A:p.P292P,PACSIN2:NM_001349972:exon7:c.G876A:p.P292P,PACSIN2:NM_001349973:exon7:c.G876A:p.P292P,PACSIN2:NM_007229:exon7:c.G876A:p.P292P RS2899365 Height:College completion
22 43289473 2 PACSIN2 G A exonic synonymous SNV PACSIN2:NM_001349974:exon2:c.C84T:p.L28L,PACSIN2:NM_001184970:exon3:c.C207T:p.L69L,PACSIN2:NM_001184971:exon3:c.C207T:p.L69L,PACSIN2:NM_001349968:exon3:c.C207T:p.L69L,PACSIN2:NM_001349969:exon3:c.C207T:p.L69L,PACSIN2:NM_001349970:exon3:c.C207T:p.L69L,PACSIN2:NM_001349971:exon3:c.C207T:p.L69L,PACSIN2:NM_001349972:exon3:c.C207T:p.L69L,PACSIN2:NM_001349973:exon3:c.C207T:p.L69L,PACSIN2:NM_007229:exon3:c.C207T:p.L69L RS5759013 Height:College completion
22 43459864 2 TTLL1 G A exonic synonymous SNV TTLL1:NM_012263:exon7:c.C702T:p.D234D RS2272870 HOMA-B:Chronic kidney disease
22 43465814 2 TTLL1 A G exonic synonymous SNV TTLL1:NM_012263:exon4:c.T150C:p.V50V RS2076155 HOMA-B
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 43558972 2 TSPO G A exonic nonsynonymous SNV TSPO:NM_000714:exon4:c.G485A:p.R162H,TSPO:NM_001256530:exon4:c.G485A:p.R162H,TSPO:NM_001256531:exon4:c.G485A:p.R162H RS6972 2 hour glucose:HDL cholesterol change with statins:LDL cholesterol:Triglycerides:Waist hip ratio:Birth weight
22 43583051 2 TTLL12 G A exonic nonsynonymous SNV TTLL12:NM_015140:exon1:c.C25T:p.R9C
22 44322970 2 PNPLA3 G T exonic nonsynonymous SNV PNPLA3:NM_025225:exon2:c.G343T:p.G115C RS2076212 Longstanding arthritis:Arthritis including non-Rheumatoid:Fasting blood glucose:Total cholesterol change with statins:Urinary albumin-to-creatinine ratio:Birth weight
22 44324727 2 PNPLA3 C G exonic nonsynonymous SNV PNPLA3:NM_025225:exon3:c.C444G:p.I148M RS738409 HDL cholesterol:Total cholesterol:Nonalcoholic fatty liver disease:Total cholesterol:HDL cholesterol:LDL cholesterol:HDL cholesterol:SAMM50 cis expression in subcutaneous fat:SAMM50 cis expression in omental fat:CT hepatic steatosis:Nonalcoholic fatty liver disease:LDL cholesterol:Soluble intercellular adhesion molecule 1 (ICAM-1):Alanine aminotransferase (ALT) in plasma:Hepatic steatosis assessed by CT:Non-alcoholic fatty liver disease:Alanine aminotransferase (ALT):Non-alcoholic fatty liver disease:Fibrosis (brunt grade 1/2/3) in Nonalcoholic fatty liver disease:Fasting blood glucose in Nonalcoholic fatty liver disease:Fatty liver:Non-alcoholic fatty liver disease (Matteoni classification, Type 2 versus Type 4):Iron deposition (0/1/2/3/4) in Nonalcoholic fatty liver disease:Fasting insulin in Nonalcoholic fatty liver disease:Aspartate aminotransferase (AST) in Nonalcoholic fatty liver disease:Ferritin in Nonalcoholic fatty liver disease:Alanine aminotransferase (ALT) in Nonalcoholic fatty liver disease:Hepatocyte ballooning in Nonalcoholic fatty liver disease:Triglycerides in Nonalcoholic fatty liver disease:Hyaluronic acid in Nonalcoholic fatty liver disease:Non-alcoholic fatty liver disease (Matteoni classification, Type4):Non-alcoholic fatty liver disease activity score:Non-alcoholic fatty liver disease (Matteoni classification, Type4 nonalcoholic steatohepatitis):Non-alcoholic fatty liver disease (Matteoni classification, Type 3 versus Type 4):Steatosis grade in Nonalcoholic fatty liver disease:Aspartate aminotransferase (AST) in Nonalcoholic fatty liver disease:Non-alcoholic fatty liver disease (Matteoni classification, Type 1 versus Type 4):Lobular inflammation in Nonalcoholic fatty liver disease:Aspartate aminotransferase (AST):Alanine aminotransferase (ALT) in Nonalcoholic fatty liver disease:Fat deposition (1/2/3/4) in Nonalcoholic fatty liver disease:Non-alcoholic fatty liver disease (Matteoni classification):Fibrosis in Nonalcoholic fatty liver disease:Type IV collagen in Nonalcoholic fatty liver disease:Glycated Hemoglobin (HbA1c) in Nonalcoholic fatty liver disease:Platelet count (PLT) in Nonalcoholic fatty liver disease:Triglycerides in Nonalcoholic fatty liver disease
22 44324730 2 PNPLA3 C T exonic synonymous SNV PNPLA3:NM_025225:exon3:c.C447T:p.P149P RS738408 HDL cholesterol:Total cholesterol:Total cholesterol:HDL cholesterol:LDL cholesterol:Fatty liver
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 45132687 2 PRR5 G A exonic nonsynonymous SNV PRR5:NM_001017529:exon8:c.G442A:p.V148M,PRR5:NM_001017530:exon8:c.G442A:p.V148M,PRR5:NM_181333:exon8:c.G727A:p.V243M,PRR5:NM_001017528:exon9:c.G700A:p.V234M,PRR5:NM_015366:exon9:c.G700A:p.V234M,PRR5:NM_001198721:exon10:c.G796A:p.V266M
22 45685002 2 UPK3A A G exonic synonymous SNV UPK3A:NM_006953:exon4:c.A549G:p.S183S RS1135360 Gene expression of UPK3A in normal prepouch ileum:Birth weight
22 45691594 2 UPK3A A G exonic synonymous SNV UPK3A:NM_001167574:exon4:c.A495G:p.Q165Q,UPK3A:NM_006953:exon6:c.A858G:p.Q286Q RS1057356 Fasting blood glucose:Rheumatoid arthritis:Waist hip ratio:Obesity with early age of onset (age >2)
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 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 50279574 2 ZBED4 C T exonic nonsynonymous SNV ZBED4:NM_014838:exon2:c.C2264T:p.S755L
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 50318061 2 CRELD2 G C exonic nonsynonymous SNV CRELD2:NM_001284317:exon7:c.G742C:p.E248Q,CRELD2:NM_024324:exon8:c.G826C:p.E276Q,CRELD2:NM_001135101:exon9:c.G973C:p.E325Q
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 50658698 2 TUBGCP6 T A exonic nonsynonymous SNV TUBGCP6:NM_020461:exon16:c.A4090T:p.S1364C RS5771107 HOMA-IR:Fasting insulin:HDL cholesterol change with statins:Parkinson's disease
22 50688348 2 HDAC10 A G exonic synonymous SNV HDAC10:NM_001159286:exon5:c.T435C:p.C145C,HDAC10:NM_032019:exon5:c.T435C:p.C145C RS1555048 LDL cholesterol:2 hour glucose:Cystatin C in serum:Rheumatoid arthritis:Gene expression of HDAC10 in peripheral blood monocytes
22 50694297 2 MAPK12 A G exonic synonymous SNV MAPK12:NM_001303252:exon7:c.T603C:p.S201S,MAPK12:NM_002969:exon8:c.T633C:p.S211S RS1129880 Differential exon level expression of MAPK12 [probe 3965760] in brain cortex:Serum creatinine:Gene expression of HDAC10 (ENSG00000100429) in dendritic cells
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 50722134 2 PLXNB2 T C exonic nonsynonymous SNV PLXNB2:NM_012401:exon15:c.A2467G:p.I823V
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 50882338 2 PPP6R2 G A exonic nonsynonymous SNV PPP6R2:NM_001242899:exon22:c.G2545A:p.A849T,PPP6R2:NM_001242900:exon22:c.G2545A:p.A849T,PPP6R2:NM_001351644:exon22:c.G2545A:p.A849T,PPP6R2:NM_001351646:exon22:c.G2539A:p.A847T,PPP6R2:NM_001351648:exon22:c.G2056A:p.A686T,PPP6R2:NM_014678:exon22:c.G2542A:p.A848T,PPP6R2:NM_001242898:exon23:c.G2623A:p.A875T,PPP6R2:NM_001351641:exon23:c.G2626A:p.A876T,PPP6R2:NM_001351642:exon23:c.G2626A:p.A876T,PPP6R2:NM_001351645:exon23:c.G2542A:p.A848T,PPP6R2:NM_001351647:exon23:c.G2137A:p.A713T,PPP6R2:NM_001351643:exon24:c.G2623A:p.A875T
22 50895020 2 SBF1 C T exonic synonymous SNV SBF1:NM_002972:exon30:c.G3987A:p.A1329A
22 50898026 2 SBF1 G A exonic synonymous SNV SBF1:NM_002972:exon27:c.C3561T:p.Y1187Y
22 50901009 2 SBF1 C T exonic synonymous SNV SBF1:NM_002972:exon18:c.G2106A:p.T702T
22 50941985 2 LMF2 T C exonic synonymous SNV LMF2:NM_033200:exon14:c.A1959G:p.Q653Q
22 50942121 2 LMF2 C T exonic nonsynonymous SNV LMF2:NM_033200:exon14:c.G1823A:p.S608N
22 50945256 2 LMF2 A G exonic synonymous SNV LMF2:NM_033200:exon2:c.T303C:p.P101P
22 153581728 2