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
RS1588743576 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1588757756 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS1588770875 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1588784791 EHMT1 Health Risk Pathogenic Marfanoid habitus and intellectual disability, Kleefstra syndrome 1
RS1588810676 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1588810695 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1588811810 VPS13B Health Risk Pathogenic Cohen syndrome, VPS13B-related disorder
RS1588816777 COL27A1 Health Risk Likely pathogenic —
RS1588830568 INPP5E Health Risk Likely pathogenic Leber congenital amaurosis, Rod-cone dystrophy
RS1588833694 SLC44A1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1588844639 SLC34A3 Health Risk Likely pathogenic Hypercalciuria, Hypercalciuria
RS1588848475 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1588854011 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1588855714 SYNE1 Health Risk Likely pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1588862565 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1588862595 RET Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 2
RS1588862638 RET Health Risk Pathogenic Multiple endocrine neoplasia, type 2
RS1588862691 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1588863938 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1588864028 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1588864039 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1588864152 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1588865728 RBP3 Health Risk Pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS1588866040 RET Health Risk Pathogenic Hirschsprung disease, susceptibility to
RS1588869546 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1588871361 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1588871393 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1588872865 RET Health Risk Likely pathogenic Aganglionic megacolon, Aganglionic megacolon
RS1588873476 RET Health Risk Pathogenic/Likely pathogenic Hirschsprung disease, susceptibility to
RS1588874068 RET Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1588874416 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1588875719 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1588876500 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1588881831 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1588893751 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS1588896721 DCLRE1C Health Risk Likely pathogenic —
RS1588927571 PCDH15 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D
RS1588973202 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
RS1588973237 ASAH1 Health Risk Pathogenic/Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS1588973247 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS1588974098 ASAH1 Health Risk Conflicting classifications of pathogenicity Farber lipogranulomatosis, Farber lipogranulomatosis
RS1588974267 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS1588974593 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS1588977010 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS1588977181 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS1588978684 ASAH1 Health Risk Pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Farber lipogranulomatosis
RS1588978706 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS1588978873 ASAH1 Health Risk Pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Farber lipogranulomatosis
RS1588980220 ASAH1 Health Risk Conflicting classifications of pathogenicity Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS1588982399 ASAH1 Health Risk Pathogenic/Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS1588982421 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS1588986195 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS1588989947 ASAH1 Health Risk Pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS1588989964 ASAH1 Health Risk Pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS1588990194 ASAH1 Health Risk Pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
RS1588999312 ASAH1 Health Risk Pathogenic Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
RS1588999386 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS1588999402 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS1589036783 PCDH15 Health Risk Pathogenic —
RS1589040836 GLE1 Health Risk Pathogenic Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal arthrogryposis-anterior horn cell disease syndrome
RS1589050343 DCLRE1C Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS1589052989 DNAJC12 Health Risk Pathogenic Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
RS1589058964 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1589059043 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS1589063073 NOTCH1 Health Risk Pathogenic NOTCH1-related disorder, NOTCH1-related disorder
RS1589064285 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1589064324 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1589066272 NOTCH1 Health Risk Likely pathogenic Heart, malformation of
RS1589070600 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1589072024 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1589072933 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS1589079163 MYO3A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS1589080524 EGR2 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1589080604 EGR2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS1589080611 EGR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth disease type 1D
RS1589088690 WDR37 Health Risk Pathogenic/Likely pathogenic Neurooculocardiogenitourinary syndrome, 6 conditions
RS1589088702 WDR37 Health Risk Likely pathogenic Neurooculocardiogenitourinary syndrome, 6 conditions
RS1589088703 WDR37 Health Risk Pathogenic/Likely pathogenic Neurooculocardiogenitourinary syndrome, 6 conditions
RS1589093778 CACNA1B Health Risk Pathogenic Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
RS1589095160 CACNA1B Health Risk Pathogenic Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
RS1589110050 WAC Health Risk Pathogenic —
RS1589111139 JMJD1C Health Risk Likely pathogenic —
RS1589112601 CACNA1B Health Risk Pathogenic Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
RS1589115392 WAC Health Risk Pathogenic —
RS1589115549 WAC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1589136659 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1589149178 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS1589150410 FAM149B1 Health Risk Likely pathogenic Joubert syndrome 36, Joubert syndrome
RS1589150589 JMJD1C Health Risk Pathogenic —
RS1589152355 NODAL Health Risk Pathogenic Heterotaxy, visceral
RS1589152470 NODAL Health Risk Pathogenic Heterotaxy, visceral
RS1589156388 PCDH15 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F
RS1589170008 JMJD1C Health Risk Likely pathogenic —
RS1589196229 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS1589196234 WAC Health Risk Pathogenic —
RS1589219377 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS1589220231 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS1589229634 WHRN Health Risk Pathogenic Usher syndrome type 2D, Usher syndrome
RS1589232076 PRF1 Health Risk Pathogenic/Likely pathogenic Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2
RS1589233357 PRF1 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis
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