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
RS972664841 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS972668240 CRTAP Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS972669347 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS972673766 ESPN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS972696428 SUCLA2 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS972697183 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS972700789 ITGB4 Health Risk Pathogenic —
RS972750366 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS972753865 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS972790555 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS972796332 COL4A3 Health Risk Conflicting classifications of pathogenicity —
RS972823319 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS972825197 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS972857493 SLC25A3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy-hypotonia-lactic acidosis syndrome, Cardiomyopathy-hypotonia-lactic acidosis syndrome
RS972937270 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS972959777 PPP2CA Health Risk Likely pathogenic PPP2CA-related disorder, PPP2CA-related disorder
RS972964381 NALCN Health Risk Pathogenic —
RS972968488 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Kabuki syndrome 2
RS972980821 ABCA4 Health Risk Pathogenic —
RS973057702 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS973059586 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS973061258 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS973088841 CLDN19 Health Risk Likely pathogenic Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement
RS973116318 SRD5A2 Health Risk Conflicting classifications of pathogenicity 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, Differences in sex development
RS973138093 GLE1 Health Risk Pathogenic —
RS973149684 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Sitosterolemia 1
RS973149799 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS973152588 TK2 Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
RS973157263 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS973179248 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS973321068 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS973328870 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS973342972 ADGRV1 Health Risk Pathogenic/Likely pathogenic —
RS973379327 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS973389335 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS973409423 TBL1XR1 Health Risk Conflicting classifications of pathogenicity Pierpont syndrome, Pierpont syndrome
RS973467545 AUTS2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS973469781 OBSL1 Health Risk Likely pathogenic —
RS973476980 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS973479623 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome
RS973491846 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS973578825 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS973676174 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 2, Inborn genetic diseases
RS973691866 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS973697337 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS973700825 MYH2 Health Risk Likely pathogenic Myopathy, proximal
RS973719913 SACS Health Risk Pathogenic Spastic paraplegia, Inborn genetic diseases
RS973728066 OTOG Health Risk Conflicting classifications of pathogenicity —
RS973744863 AP4M1 Health Risk Likely pathogenic Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS973746837 MYO7A Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS973767996 PRKCG Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS973795374 ERCC2 Health Risk Likely pathogenic —
RS973796037 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS973819096 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS973835010 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS973841786 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 5
RS973844363 ASXL3 Health Risk Likely pathogenic —
RS973845764 ZNF469 Health Risk Conflicting classifications of pathogenicity ZNF469-related disorder, Cardiovascular phenotype
RS973874631 TTPA Health Risk Conflicting classifications of pathogenicity Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS973900671 GMPPB Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS973920709 WDFY3 Health Risk Likely pathogenic Microcephaly 18, primary
RS973931180 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, Retinal dystrophy
RS973943297 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS973951246 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS973986984 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency
RS973992111 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS974011425 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5C
RS974012306 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS974031657 CFAP418 Health Risk Conflicting classifications of pathogenicity CFAP418-related disorder, CFAP418-related disorder
RS974106601 TET2 Health Risk Pathogenic —
RS974172420 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS974173261 BBS12 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Bardet-Biedl syndrome
RS974196549 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 4, Senior-Loken syndrome 4
RS974287422 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS974309886 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS974323028 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS974377052 CLPB Health Risk Pathogenic/Likely pathogenic 3-methylglutaconic aciduria, type VIIB
RS974381338 HIVEP2 Health Risk Conflicting classifications of pathogenicity —
RS974424401 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS974466164 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS974483781 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Porencephaly 2
RS974496530 DUOXA2 Health Risk Pathogenic/Likely pathogenic Thyroglobulin synthesis defect, Thyroglobulin synthesis defect
RS974510652 TTN Health Risk Pathogenic/Likely pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS974544530 TBC1D24 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS974575417 PANK2 Health Risk Pathogenic/Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS974582114 ALDOB Health Risk Pathogenic/Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS974604498 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS974606638 TSEN54 Health Risk Pathogenic —
RS974626632 MPL Health Risk Likely pathogenic —
RS974639091 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS974667486 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS974671846 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS974677376 COQ8A Health Risk Pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS974693995 SLC24A1 Health Risk Pathogenic —
RS974708373 RMND1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS974712040 HMBS Health Risk Likely pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS974725975 TECRL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 3
RS974759127 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS974766727 LOXHD1 Health Risk Pathogenic/Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS974769346 KCND3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
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