SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS949983017 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Multiple epiphyseal dysplasia
RS949994168 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS949998454 MYO18B Health Risk Pathogenic —
RS950013593 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Danon disease
RS950016126 CARD11 Health Risk Likely pathogenic BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS950033293 C6 Health Risk Likely pathogenic C6-related disorder, C6-related disorder
RS950054021 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS950076691 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 2
RS950115468 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS950154005 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS950181650 DOCK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS950210342 CFH Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical
RS950211877 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS950213013 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS950229238 ATP8B1 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS950293866 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS950336124 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Alternating hemiplegia of childhood 2
RS950351911 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS950352036 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS950356390 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia
RS950364050 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Progressive familial heart block type IB
RS950435405 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS950485640 NSD1 Health Risk Conflicting classifications of pathogenicity —
RS950490534 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS950492553 KCNV2 Health Risk Pathogenic Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS950553574 COL4A3 Health Risk Pathogenic —
RS950558629 PPP2R1A Health Risk Conflicting classifications of pathogenicity Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS950623649 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia
RS950682180 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Melanoma-pancreatic cancer syndrome
RS950694232 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS950721550 H4C5 Health Risk Conflicting classifications of pathogenicity See cases, Tessadori-Van Haaften neurodevelopmental syndrome 3
RS950724245 CABP2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 93, CABP2-related disorder
RS950724350 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS950725039 LAMP2 Health Risk Pathogenic —
RS950749390 SNIP1 Health Risk Conflicting classifications of pathogenicity —
RS950759807 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS950805207 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS950856923 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS950907157 NHLRC1 Health Risk Likely pathogenic Lafora disease, Lafora disease
RS950912243 ESCO2 Health Risk Conflicting classifications of pathogenicity Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome
RS950932066 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS950958823 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Thyroid cancer
RS950977184 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS950986305 ZNF469 Health Risk Conflicting classifications of pathogenicity —
RS951001849 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS951047896 H1-4 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS951057994 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS951076370 PATL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS951076425 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS951101870 MAGEL2 Health Risk Conflicting classifications of pathogenicity MAGEL2-related disorder, Inborn genetic diseases
RS951196653 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS951221380 TUBGCP6 Health Risk Pathogenic/Likely pathogenic Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS951245406 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS951249107 FOXRED1 Health Risk Pathogenic —
RS951251256 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS951320175 CIC Health Risk Likely pathogenic CIC-related disorder, CIC-related disorder
RS951330386 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS951333133 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS951344311 SNX14 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
RS951347128 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS951372478 PHGDH Health Risk Pathogenic/Likely pathogenic PHGDH deficiency, Neu-Laxova syndrome 1
RS951379922 ABCA4 Health Risk Likely pathogenic Cone-rod dystrophy 3, Retinal dystrophy
RS951395468 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS9514066 ERCC5 Health Risk Likely pathogenic —
RS9514067 ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS951421085 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS951438275 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS951478194 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency 1
RS951501624 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS951525447 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS951544417 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS951589289 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS951629848 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS951696015 HNF1A Health Risk Conflicting classifications of pathogenicity Type 1 diabetes mellitus 20, Maturity-onset diabetes of the young
RS951703772 HIVEP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 43
RS951710742 PITX2 Health Risk Pathogenic/Likely pathogenic Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4
RS951731570 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS951773023 ACADS Health Risk Likely pathogenic ACADS-related disorder, ACADS-related disorder
RS951775920 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS951805101 MRE11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS951827564 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS951851993 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS951869246 ARMC5 Health Risk Pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS951875086 DNM2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B
RS951927737 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS951979448 CEP290 Health Risk Likely pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS951985752 TUBGCP6 Health Risk Likely pathogenic —
RS951988481 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS951989321 EMC1 Health Risk Likely pathogenic —
RS952006496 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS952062982 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS952109184 ABCB7 Health Risk Conflicting classifications of pathogenicity —
RS952110960 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS952121500 NLRC4 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS952155068 GABRA2 Health Risk Likely pathogenic —
RS952165627 FOLR1 Health Risk Likely pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS952193754 GUCY2D Health Risk Conflicting classifications of pathogenicity Cone dystrophy, Leber congenital amaurosis 1
RS952211002 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS952225281 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS952235302 OTOGL Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
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