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
RS576447224 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS576453637 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS576454844 NDUFS1 Health Risk Conflicting classifications of pathogenicity —
RS576455064 EVC2 Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS576457697 CC2D1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS576459585 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS576460368 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS576462794 MTRFR Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 7, Spastic paraplegia
RS576466497 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS576466976 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS576473519 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 4
RS576476807 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS576501460 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS576503650 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS57650413 KRT1 Health Risk Pathogenic Keratosis palmoplantaris striata 3, Keratosis palmoplantaris striata 3
RS576505138 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS576515898 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 3
RS576516079 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS576523117 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS576527619 RARS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS576532771 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS576536458 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS576538858 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS576542942 SHOX Health Risk Conflicting classifications of pathogenicity —
RS576554454 LEFTY2 Health Risk Conflicting classifications of pathogenicity Left-right axis malformations, Left-right axis malformations
RS576564400 SPINK1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS576565258 CYBA Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS576577339 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS576579238 IMPG1 Health Risk Conflicting classifications of pathogenicity —
RS576585646 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS576589974 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS576598951 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS5766 TBXAS1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS576610212 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS576611342 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Inborn genetic diseases
RS576613785 COQ8A Health Risk Conflicting classifications of pathogenicity —
RS576620371 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS576633619 TERT Health Risk Conflicting classifications of pathogenicity Aplastic anemia, Pulmonary fibrosis and/or bone marrow failure
RS576636085 COL4A1 Health Risk Conflicting classifications of pathogenicity Microangiopathy and leukoencephalopathy, pontine
RS576642411 CYP2R1 Health Risk Pathogenic/Likely pathogenic Vitamin D hydroxylation-deficient rickets, type 1B
RS576643925 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS576645032 BMPER Health Risk Conflicting classifications of pathogenicity —
RS576648874 ATP2C1 Health Risk Conflicting classifications of pathogenicity Familial benign pemphigus, Familial benign pemphigus
RS576655203 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS576657199 RFXANK Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS576658764 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis
RS576659891 TPM1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3
RS576661499 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS576663980 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS576670749 ARCN1 Health Risk Conflicting classifications of pathogenicity —
RS576681448 NDUFAF6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS576684889 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS576688705 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS576689580 TNFSF12 Health Risk Conflicting classifications of pathogenicity Common variable immunodeficiency, TNFSF12-related disorder
RS576723612 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1
RS576724182 STRC Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 16, STRC-related disorder
RS576727094 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2, Usher syndrome type 2
RS576727185 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS576737530 TTBK2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 11, Inborn genetic diseases
RS576738703 TULP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 15, Retinitis pigmentosa
RS57674130 KRT17 Health Risk Pathogenic Pachyonychia congenita 2, Pachyonychia congenita 2
RS576742644 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS576747810 PRKCD Health Risk Pathogenic Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
RS576756431 CPOX Health Risk Pathogenic —
RS576759867 TTN Health Risk Conflicting classifications of pathogenicity —
RS576780935 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS576783493 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS576788910 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS576795665 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS576798969 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS576801606 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS576803383 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS576803886 IFT27 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, IFT27-related disorder
RS576805965 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS576809784 TPRN Health Risk Conflicting classifications of pathogenicity —
RS576822260 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS576824464 PIEZO2 Health Risk Pathogenic —
RS576852565 FXN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS57685603 EFEMP2 Health Risk Likely pathogenic Cutis laxa, Cutis laxa
RS576862555 HNF1A Health Risk Conflicting classifications of pathogenicity HNF1A-related disorder, HNF1A-related disorder
RS576872432 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS576884305 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS576888932 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS576890188 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS576893678 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS576895229 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS576902446 WT1 Health Risk Conflicting classifications of pathogenicity Frasier syndrome, Wilms tumor 1
RS576904726 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS576907642 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS576918048 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spondylometaphyseal dysplasia - Sutcliffe type
RS576918934 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS576922307 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS576927174 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS576928842 NDE1 Health Risk Pathogenic/Likely pathogenic Lissencephaly 4, Lissencephaly 4
RS576930680 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS576931877 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, RB1-related disorder
RS576934285 TET2-AS1;TET2 Health Risk Likely pathogenic Myelodysplastic syndrome, Myelodysplastic syndrome
RS57694264 DES Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS576947078 ACAN Health Risk Conflicting classifications of pathogenicity —
RS576948027 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
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