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
RS779952581 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS779952705 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS779952771 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS779953541 TIMMDC1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS779953982 MKS1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Bardet-Biedl syndrome 13
RS779953987 CEP78 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779954908 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS779956047 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS779956431 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS779957324 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS779958669 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS779959657 VCP Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS779960116 ARHGAP24 Health Risk Conflicting classifications of pathogenicity —
RS779960429 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS779961735 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS779961791 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS779961986 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS779962003 LARS2 Health Risk Pathogenic —
RS779962297 CDK4 Health Risk Conflicting classifications of pathogenicity —
RS779964139 TJP2 Health Risk Conflicting classifications of pathogenicity —
RS779966392 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS779967314 NBAS Health Risk Pathogenic —
RS779967765 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, Hereditary breast ovarian cancer syndrome
RS779967808 MECOM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779968528 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS779968751 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779969253 OTOF Health Risk Pathogenic Auditory neuropathy, Auditory neuropathy
RS779969348 DYSF Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS779969402 WNT1 Health Risk Pathogenic Osteogenesis imperfecta type 15, Osteogenesis imperfecta
RS779970449 GALNT3 Health Risk Conflicting classifications of pathogenicity —
RS779972784 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS779973529 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy
RS779974242 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes syndrome
RS779974365 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS779974496 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS779974705 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS779975231 CDH23 Health Risk Pathogenic —
RS779977337 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS779980010 FLVCR1 Health Risk Conflicting classifications of pathogenicity —
RS779980394 CREBBP Health Risk Conflicting classifications of pathogenicity CREBBP-related disorder, Menke-Hennekam syndrome 1
RS779980669 CTU2 Health Risk Pathogenic Microcephaly, facial dysmorphism
RS779981823 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS779982610 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS779983065 SLC45A2 Health Risk Pathogenic/Likely pathogenic Thrombocytopenia, Abnormal bleeding
RS779983752 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS779986666 ITPR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ITPR1-related disorder
RS779986873 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779987458 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS779987540 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS779988517 OTOGL Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Rare genetic deafness
RS779990343 SCNN1B Health Risk Conflicting classifications of pathogenicity —
RS779990637 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS779990936 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS779990994 DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS779991033 RPH3A Health Risk Pathogenic —
RS779991759 CPLANE1 Health Risk Pathogenic —
RS779992354 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental delay
RS779992631 B3GLCT Health Risk Likely pathogenic Peters plus syndrome, Peters plus syndrome
RS779992820 CNTNAP1 Health Risk Conflicting classifications of pathogenicity Lethal congenital contracture syndrome 7, Neuropathy
RS779993051 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS779993607 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS779993828 GLRA1 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 1, Hereditary hyperekplexia
RS779993876 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS779994835 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779995225 ISCA2 Health Risk Likely pathogenic —
RS779995818 AEBP1 Health Risk Conflicting classifications of pathogenicity —
RS779996159 LRAT Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Leber congenital amaurosis 14
RS779996558 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS779996703 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS779996721 GALK1 Health Risk Conflicting classifications of pathogenicity Deficiency of galactokinase, Deficiency of galactokinase
RS779997419 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS779997983 QDPR Health Risk Pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS779998245 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779998311 COL11A2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 13, Autosomal dominant nonsyndromic hearing loss 13
RS779998803 RP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780000018 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS780000441 EVC Health Risk Pathogenic —
RS780001199 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS780001540 MRE11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS780001754 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer
RS780002791 CYP1B1 Health Risk Pathogenic Glaucoma 3A, Glaucoma 3A
RS780003350 SI Health Risk Likely pathogenic —
RS780003580 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS780004720 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS780005300 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8
RS780006577 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS780006952 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS780007963 MERTK Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS780008058 DDX11 Health Risk Conflicting classifications of pathogenicity Warsaw breakage syndrome, Warsaw breakage syndrome
RS780009030 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS780009389 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS780009859 FGFR1 Health Risk Conflicting classifications of pathogenicity Hartsfield-Bixler-Demyer syndrome, Craniosynostosis syndrome
RS780010188 CC2D1A Health Risk Likely pathogenic —
RS780010340 CC2D2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Joubert syndrome
RS780010436 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS780010794 KIAA0753 Health Risk Pathogenic —
RS780011005 ANKRD11 Health Risk Pathogenic KBG syndrome, Global developmental delay
RS780011442 OPTN Health Risk Conflicting classifications of pathogenicity Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12
RS780011571 ADGRV1 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS780011606 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
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