SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS587777493 HCN1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 24
RS587777494 HCN1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 24
RS587777495 HCN1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 24
RS587777496 GJC2 Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 2, Spastic paraplegia
RS587777498 CCNO Health Risk Pathogenic Primary ciliary dyskinesia 29, Primary ciliary dyskinesia
RS587777499 CCNO Health Risk Pathogenic Primary ciliary dyskinesia 29, Primary ciliary dyskinesia
RS587777500 CCNO Health Risk Pathogenic Primary ciliary dyskinesia 29, Primary ciliary dyskinesia 29
RS587777501 CCNO Health Risk Likely pathogenic Primary ciliary dyskinesia 29, Primary ciliary dyskinesia
RS587777502 CCNO Health Risk Pathogenic Primary ciliary dyskinesia 29, Primary ciliary dyskinesia
RS587777503 CCNO Health Risk Pathogenic Primary ciliary dyskinesia 29, Primary ciliary dyskinesia
RS587777504 SCLT1 Health Risk Pathogenic —
RS587777505 TBC1D32 Health Risk Likely pathogenic Alsahan-Harris syndrome, Orofaciodigital syndrome IX
RS587777506 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS587777507 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS587777508 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS587777509 DNMT3A Health Risk Pathogenic/Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Inborn genetic diseases
RS587777510 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS587777511 MAB21L2 Health Risk Likely pathogenic Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome
RS587777512 MAB21L2 Health Risk Pathogenic Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome
RS587777513 MAB21L2 Health Risk Likely pathogenic Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome
RS587777514 MAB21L2 Health Risk Conflicting classifications of pathogenicity Colobomatous microphthalmia-rhizomelic dysplasia syndrome, Colobomatous microphthalmia-rhizomelic dysplasia syndrome
RS587777515 MMP20 Health Risk Pathogenic Amelogenesis imperfecta hypomaturation type 2A2, Amelogenesis imperfecta hypomaturation type 2A2
RS587777516 MMP20 Health Risk Pathogenic Amelogenesis imperfecta hypomaturation type 2A2, Amelogenesis imperfecta hypomaturation type 2A2
RS587777517 ANGPTL4 Health Risk association Plasma triglyceride level quantitative trait locus, Plasma triglyceride level quantitative trait locus
RS587777518 TJP2 Health Risk Conflicting classifications of pathogenicity Cholestasis, progressive familial intrahepatic
RS587777519 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS587777520 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS587777521 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS587777522 ADNP Health Risk Pathogenic/Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Intellectual disability
RS587777523 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Inborn genetic diseases
RS587777524 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS587777525 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS587777526 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Inborn genetic diseases
RS587777527 RPL21 Health Risk Pathogenic Hypotrichosis 12, Hypotrichosis 12
RS587777528 ORAI1 Health Risk Pathogenic Myopathy, tubular aggregate
RS587777529 RASGRP2 Health Risk Likely pathogenic Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18
RS587777530 FAM20A Health Risk Pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS587777531 FAM20A Health Risk Pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS587777532 CTSC Health Risk Pathogenic Papillon-Lefèvre syndrome, Papillon-Lefèvre syndrome
RS587777533 CTSC Health Risk Pathogenic Papillon-Lefèvre syndrome, Periodontitis
RS587777534 CTSC Health Risk Pathogenic/Likely pathogenic Periodontitis, aggressive 1
RS587777535 SLC24A4 Health Risk Pathogenic Amelogenesis imperfecta hypomaturation type 2A5, Amelogenesis imperfecta hypomaturation type 2A5
RS587777536 SLC24A4 Health Risk Pathogenic Amelogenesis imperfecta hypomaturation type 2A5, Amelogenesis imperfecta hypomaturation type 2A5
RS587777537 SLC24A4 Health Risk Pathogenic Amelogenesis imperfecta hypomaturation type 2A5, Amelogenesis imperfecta hypomaturation type 2A5
RS587777538 KPNA7 Health Risk Conflicting classifications of pathogenicity —
RS587777540 CBL Health Risk Conflicting classifications of pathogenicity CBL-related disorder, Intellectual disability
RS587777542 AP1S2 Health Risk Pathogenic Pettigrew syndrome, Pettigrew syndrome
RS587777543 PIGQ Health Risk Pathogenic Developmental and epileptic encephalopathy, 77
RS587777545 KRT71 Health Risk Pathogenic Hypotrichosis 13, Hypotrichosis 13
RS587777546 IFT27 Health Risk Pathogenic Bardet-Biedl syndrome 19, IFT27-related disorder
RS587777547 TTC7A Health Risk Pathogenic Gastrointestinal defects and immunodeficiency syndrome 1, Gastrointestinal defects and immunodeficiency syndrome 1
RS587777548 TTC7A Health Risk Pathogenic Gastrointestinal defects and immunodeficiency syndrome 1, Gastrointestinal defects and immunodeficiency syndrome 1
RS587777549 TTC7A Health Risk Pathogenic Gastrointestinal defects and immunodeficiency syndrome 1, Gastrointestinal defects and immunodeficiency syndrome 1
RS587777550 TTC7A Health Risk Pathogenic Gastrointestinal defects and immunodeficiency syndrome 1, Gastrointestinal defects and immunodeficiency syndrome 1
RS587777551 TTC7A Health Risk Pathogenic Gastrointestinal defects and immunodeficiency syndrome 1, Gastrointestinal defects and immunodeficiency syndrome 1
RS587777552 ARHGDIA Health Risk Pathogenic Nephrotic syndrome, type 8
RS587777553 ARHGDIA Health Risk Pathogenic Nephrotic syndrome, type 8
RS587777557 SCN3B Health Risk Pathogenic Atrial fibrillation, familial
RS587777558 SCN3B Health Risk Pathogenic Atrial fibrillation, familial
RS587777559 SCN4B Health Risk Pathogenic Atrial fibrillation, familial
RS587777560 SCN4B Health Risk Pathogenic Atrial fibrillation, familial
RS587777561 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy 1 without immunodeficiency
RS587777562 PGM3 Health Risk Pathogenic/Likely pathogenic Immunodeficiency 23, Inborn genetic diseases
RS587777564 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS587777565 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS587777566 VEGFC Health Risk Pathogenic Lymphatic malformation 4, Lymphatic malformation 4
RS587777567 VEGFC Health Risk Pathogenic Lymphatic malformation 4, Lymphatic malformation 4
RS587777568 RPS29 Health Risk Pathogenic Diamond-Blackfan anemia 13, Diamond-Blackfan anemia 13
RS587777569 RPS29 Health Risk Likely pathogenic Diamond-Blackfan anemia 13, Diamond-Blackfan anemia 13
RS587777570 KIF5C Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
RS587777572 PXDN Health Risk Pathogenic Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
RS587777573 PXDN Health Risk Pathogenic Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
RS587777574 CHCHD10 Health Risk Pathogenic/Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant mitochondrial myopathy with exercise intolerance
RS587777575 IFIH1 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS587777576 IFIH1 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS587777577 SLC13A5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 25
RS587777578 SLC13A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 25
RS587777579 FGF5 Health Risk Pathogenic Trichomegaly, Trichomegaly
RS587777580 FGF5 Health Risk Pathogenic Trichomegaly, Trichomegaly
RS587777581 FGF5 Health Risk Pathogenic Trichomegaly, Trichomegaly
RS587777583 VARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS587777584 VARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS587777585 VARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 20, Inborn genetic diseases
RS587777586 RAF1 Health Risk Pathogenic Dilated cardiomyopathy 1NN, Dilated cardiomyopathy 1NN
RS587777587 RAF1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1NN, Primary dilated cardiomyopathy
RS587777589 AARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 8, Pulmonary hypoplasia
RS587777590 AARS2 Health Risk Pathogenic Leukoencephalopathy, progressive
RS587777591 AARS2 Health Risk Pathogenic Leukoencephalopathy, progressive
RS587777593 TARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21
RS587777594 TARS2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21
RS587777595 NPR2 Health Risk Pathogenic Tall stature-scoliosis-macrodactyly of the great toes syndrome, Tall stature-scoliosis-macrodactyly of the great toes syndrome
RS587777596 NPR2 Health Risk Pathogenic Tall stature-scoliosis-macrodactyly of the great toes syndrome, Tall stature-scoliosis-macrodactyly of the great toes syndrome
RS587777597 NPR2 Health Risk Pathogenic Tall stature-scoliosis-macrodactyly of the great toes syndrome, Tall stature-scoliosis-macrodactyly of the great toes syndrome
RS587777598 ELOVL4 Health Risk Pathogenic Spinocerebellar ataxia type 34, Stargardt disease 3
RS587777599 PRPF4 Health Risk Likely pathogenic Retinitis pigmentosa 70, Retinal dystrophy
RS587777600 FDX2 Health Risk Conflicting classifications of pathogenicity Inborn mitochondrial myopathy, Mitochondrial myopathy
RS587777601 CRYBB3 Health Risk Pathogenic Cataract 22 multiple types, Cataract 22 multiple types
RS587777602 ABHD12 Health Risk Pathogenic PHARC syndrome, PHARC syndrome
RS587777603 ABHD12 Health Risk Pathogenic PHARC syndrome, PHARC syndrome
RS587777604 ABHD12 Health Risk Conflicting classifications of pathogenicity PHARC syndrome, Cone dystrophy
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