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
RS139437157 CLDN14 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 29, CLDN14-related disorder
RS139438201 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS139438549 ACD Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 6
RS1394394477 DNAH14 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS139439725 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS139440109 TBCE Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
RS1394411524 FRAS1 Health Risk Pathogenic —
RS139441507 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS139442327 INPPL1 Health Risk Conflicting classifications of pathogenicity INPPL1-related disorder, INPPL1-related disorder
RS1394425220 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS139442869 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS1394431107 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS139443633 REV3L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1394437421 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1394440556 MESP2 Health Risk Pathogenic —
RS139444207 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 43
RS139444405 SUOX Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency, Inborn genetic diseases
RS139444683 VPS13A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139444870 KDM5C Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS139444990 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS139445409 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1394455331 TYRP1 Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 3, Oculocutaneous albinism type 3
RS139445683 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, SMARCAL1-related disorder
RS139446085 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139446305 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS139446870 FMN1 Health Risk Conflicting classifications of pathogenicity —
RS1394474494 PMS2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Carcinoma of colon
RS1394475208 PRMT9 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS139448202 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS1394491958 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS139449198 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS1394499137 C1QBP Health Risk Pathogenic Combined oxidative phosphorylation deficiency 33, Combined oxidative phosphorylation deficiency 33
RS139450035 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139450204 STRA6 Health Risk Conflicting classifications of pathogenicity Matthew-Wood syndrome, STRA6-related disorder
RS139450223 EDC3 Health Risk Conflicting classifications of pathogenicity —
RS1394502687 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1394513127 SLC7A9 Health Risk Pathogenic/Likely pathogenic SLC7A9-related disorder, SLC7A9-related disorder
RS1394513954 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS139451754 PCLO Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 3, Pontocerebellar hypoplasia type 3
RS139452116 FN1 Health Risk Conflicting classifications of pathogenicity FN1-related disorder, FN1-related disorder
RS139452142 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS139453193 LCAT Health Risk Conflicting classifications of pathogenicity LCAT deficiency, Cardiovascular phenotype
RS139453594 PCSK1 Health Risk Conflicting classifications of pathogenicity Obesity due to prohormone convertase I deficiency, PCSK1-related disorder
RS139454209 ALOXE3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS1394545143 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN-related disorder
RS1394547323 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, MCCC1-related disorder
RS139454982 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Sarcoglycanopathy
RS139455627 TSPEAR Health Risk Pathogenic/Likely pathogenic TSPEAR-related disorder of tooth and hair follicle morphogenesis, Inborn genetic diseases
RS139455685 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS139456217 PDE6C Health Risk Conflicting classifications of pathogenicity Cone dystrophy 4, Achromatopsia
RS139456270 LARS1 Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Infantile liver failure syndrome 1
RS139456857 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS139457469 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Tangier disease
RS139457470 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS139457557 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases
RS1394576194 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1394576939 WFS1 Health Risk Conflicting classifications of pathogenicity Autistic behavior, Wolfram syndrome 1
RS1394578008 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1394583450 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1394587447 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS139459091 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Acroleukopathy
RS139459124 NEXMIF Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability, Cantagrel type
RS1394600425 CLMP Health Risk Likely pathogenic Congenital short bowel syndrome, autosomal recessive
RS139460397 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS1394604123 C8B Health Risk Likely pathogenic —
RS1394607357 WWOX Health Risk Pathogenic Neurodevelopmental disorders, Developmental and epileptic encephalopathy
RS139461096 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Dystonic disorder
RS139461888 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Generalized dominant dystrophic epidermolysis bullosa
RS139463422 KRT74 Health Risk Conflicting classifications of pathogenicity —
RS1394634674 GP1BA Health Risk Pathogenic Bernard-Soulier syndrome, type A1
RS139463596 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS139463637 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1394640737 ATAD3A Health Risk Likely pathogenic —
RS1394646742 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS139464953 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS139465983 TG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139466191 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS139467141 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS139468087 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS1394681818 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS139468199 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS139468767 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS139468837 IQCB1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 5
RS1394696665 GANAB Health Risk Likely pathogenic Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease
RS139469785 AFG3L2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 28, Spastic ataxia 5
RS1394699316 NEU1 Health Risk Pathogenic —
RS1394701012 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1394703998 STX3 Health Risk Likely pathogenic —
RS1394704286 NEXN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
RS139471047 SLC12A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bartter disease type 1
RS139471471 ADAR Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
RS139471788 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139472403 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS1394730320 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139473153 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS1394737087 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1394738986 KCNQ2 Health Risk Likely pathogenic —
RS139474171 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS139474806 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS139474852 CEP135 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CEP135-related disorder
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