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
RS753878546 IL17RA Health Risk Pathogenic Immunodeficiency 51, Immunodeficiency 51
RS753879238 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis
RS753879573 PIK3CA Health Risk Conflicting classifications of pathogenicity Cowden syndrome, Cowden syndrome
RS753880265 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS753881778 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS753881948 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial disease, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS753883369 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS753884144 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS7-related disorder
RS753884599 CEP290 Health Risk Pathogenic Joubert syndrome 5, Joubert syndrome
RS753884600 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS753884765 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 1
RS753885022 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS753885399 KAT6A Health Risk Conflicting classifications of pathogenicity Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS753885687 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS753885924 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS753886165 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinal dystrophy
RS753886326 CDH23 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Usher syndrome type 1D
RS753886576 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS753886912 CHD8 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS753887142 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS753887925 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Ovarian serous cystadenocarcinoma
RS753888456 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS753888773 ZNF335 Health Risk Pathogenic Microcephalic primordial dwarfism due to ZNF335 deficiency, Microcephalic primordial dwarfism due to ZNF335 deficiency
RS753889327 NAF1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related
RS753889985 MATN3 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 5, Multiple epiphyseal dysplasia type 5
RS753890879 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS753891384 NFKBIA Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases
RS753892271 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS753893753 KRT9 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma, epidermolytic
RS753895110 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS753895120 PMPCA Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2
RS753896285 TECTA Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12
RS753897286 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Myopathy
RS753897960 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS753898533 COL17A1 Health Risk Pathogenic Epidermolysis bullosa, junctional 4
RS753899130 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS75389940 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS753899619 KMT2B Health Risk Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
RS753899883 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS753900024 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, 8 conditions
RS753900028 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS753900410 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS753901053 CLDN16 Health Risk Pathogenic/Likely pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS753901064 GYG1 Health Risk Pathogenic Polyglucosan body myopathy type 2, Glycogen storage disease XV
RS753901380 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS753903194 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B2, Inborn genetic diseases
RS753904474 DES Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Desmin-related myofibrillar myopathy
RS753904901 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS753904927 LIPT2 Health Risk Conflicting classifications of pathogenicity Encephalopathy, neonatal severe
RS753905054 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS753905088 TCTN2 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS753905518 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS753906391 DUOX2 Health Risk Pathogenic —
RS753907159 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS753908845 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS753909559 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753909969 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS753910059 GANAB Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease
RS753911740 PKD1L1 Health Risk Pathogenic Visceral heterotaxy, Heterotaxy
RS753912045 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS753912150 PHOX2B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Haddad syndrome
RS753912717 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS753912985 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS753913206 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS753913368 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS753913853 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753914653 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS753915618 AGR2 Health Risk Likely pathogenic Respiratory infections, recurrent
RS753915750 WIPF1 Health Risk Conflicting classifications of pathogenicity Wiskott-Aldrich syndrome 2, Wiskott-Aldrich syndrome 2
RS753915759 ODAD1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS75391579 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS753916542 PCDH15 Health Risk Conflicting classifications of pathogenicity —
RS753918895 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS753919544 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS753920150 FSCN2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS753920931 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Inborn genetic diseases
RS753922155 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS753922162 FOXP1 Health Risk Conflicting classifications of pathogenicity —
RS753922163 IKBKB Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS753922795 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS753922855 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
RS753922932 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, DYSF-related disorder
RS753923758 ACTA1 Health Risk Pathogenic/Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS753924410 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS753925314 PDE6B Health Risk Likely pathogenic PDE6B-related disorder, Retinal dystrophy
RS753926744 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753928208 HPS5 Health Risk Pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS753928558 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS753928723 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS753928736 CHST6 Health Risk Likely pathogenic Macular corneal dystrophy, Macular corneal dystrophy
RS753928772 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS753929279 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS753929457 MTFMT Health Risk Conflicting classifications of pathogenicity —
RS753930474 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis
RS753932484 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS753932639 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS753933273 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS753933914 CDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753934178 HAMP Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 2B, Hereditary hemochromatosis
RS753934412 NOBOX Health Risk Pathogenic —
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