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
RS1702008760 SCN2A Health Risk Pathogenic/Likely pathogenic Intellectual disability, Developmental and epileptic encephalopathy
RS1702008866 SCN2A Health Risk Likely pathogenic SCN2A-related generalized epilepsy with febrile seizures plus, SCN2A-related generalized epilepsy with febrile seizures plus
RS1702009188 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy
RS1702009644 SCN2A Health Risk Likely pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1702009872 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1702012175 SCN2A Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1702015681 SCN2A Health Risk Pathogenic West syndrome, West syndrome
RS1702025708 CHM Health Risk Pathogenic —
RS1702039582 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS1702072175 PGAP1 Health Risk Likely pathogenic —
RS1702087452 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1702097862 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1702127048 PGAP1 Health Risk Likely pathogenic —
RS1702151195 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1702181550 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS1702197212 HYAL1 Health Risk Pathogenic/Likely pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS1702200130 HYAL1 Health Risk Pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS1702201097 HYAL1 Health Risk Pathogenic/Likely pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS1702209367 HYAL1 Health Risk Pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS1702209747 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1702209886 HYAL1 Health Risk Pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS1702243883 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1702337235 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1702355636 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1702376984 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1702479861 TOP2B Health Risk Conflicting classifications of pathogenicity B-cell immunodeficiency, distal limb anomalies
RS1702534679 PGAP1 Health Risk Pathogenic Intellectual disability, autosomal recessive 42
RS1702538795 PGAP1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1702579715 GAD1 Health Risk Pathogenic Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89
RS1702611329 GAD1 Health Risk Pathogenic Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89
RS17027133 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder
RS1702741860 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1702795017 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1702844873 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS17028450 TMPO Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1T, Primary dilated cardiomyopathy
RS1702866781 GAD1 Health Risk Pathogenic Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89
RS1702887095 SUMF1 Health Risk Pathogenic/Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1702889459 SUMF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Multiple sulfatase deficiency
RS1703021709 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1703025184 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1703086906 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type IV
RS1703089925 ROBO1 Health Risk Likely pathogenic Bilateral renal agenesis, Neurooculorenal syndrome
RS1703128782 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703133873 ZEB2 Health Risk Pathogenic —
RS1703133912 ZEB2 Health Risk Pathogenic/Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703134531 ZEB2 Health Risk Likely pathogenic —
RS1703134890 ZEB2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1703135134 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703164675 TTN Health Risk Pathogenic Multiminicore myopathy, Multiminicore myopathy
RS1703168604 TYMS Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS17032279 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS1703231315 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703231612 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703232747 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703257054 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703257497 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703258379 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Spermatogenic failure 18
RS1703258451 ZEB2 Health Risk Pathogenic —
RS1703265228 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703267358 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703269824 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703271038 ZEB2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1703274205 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1703275164 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS1703276763 ZEB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mowat-Wilson syndrome
RS1703277223 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703278635 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703279692 ZEB2 Health Risk Pathogenic —
RS1703280349 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703280501 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703290664 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703292012 ZEB2 Health Risk Likely pathogenic —
RS1703292916 ZEB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mowat-Wilson syndrome
RS1703305546 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703305657 ZEB2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1703306516 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Inborn genetic diseases
RS1703325248 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1703347063 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703347173 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1703370102 PGAP1 Health Risk Pathogenic Intellectual disability, autosomal recessive 42
RS1703393746 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1703415128 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1703436346 ZMYND10 Health Risk Likely pathogenic —
RS1703437679 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1703450134 PRKCD Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
RS1703516483 ZMYND10 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1703516836 ZMYND10 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1703520578 ZMYND10 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1703522059 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1703538852 DNAH1 Health Risk Likely pathogenic DNAH1-related disorder, DNAH1-related disorder
RS1703612751 NPRL2 Health Risk Pathogenic —
RS1703621639 NPRL2 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial focal
RS1703651493 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1703652698 NPRL2 Health Risk Likely pathogenic Epilepsy, familial focal
RS17036536 MTOR Health Risk Conflicting classifications of pathogenicity Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS1703664543 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1703670302 GBE1 Health Risk Likely pathogenic Glycogen storage disease IV, classic hepatic
RS1703673227 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS1703692114 TTN Health Risk Likely pathogenic Cardiomyopathy, Dilated cardiomyopathy 1G
RS1703726090 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
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