SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS797044770 IDS Health Risk Pathogenic/Likely pathogenic —
RS797044772 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS797044774 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS797044775 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS797044776 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Cardiovascular phenotype
RS797044777 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS797044781 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS797044782 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS797044783 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS797044784 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, OCA2-related disorder
RS797044786 MID1 Health Risk Pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS797044787 L1CAM Health Risk Pathogenic/Likely pathogenic X-linked hydrocephalus syndrome, L1CAM-related disorder
RS797044792 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS797044797 SMPD1 Health Risk Pathogenic/Likely pathogenic Sphingomyelin/cholesterol lipidosis, Niemann-Pick disease
RS797044798 SMPD1 Health Risk Conflicting classifications of pathogenicity Sphingomyelin/cholesterol lipidosis, Niemann-Pick disease
RS797044799 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS797044800 SMPD1 Health Risk Likely pathogenic Sphingomyelin/cholesterol lipidosis, Niemann-Pick disease
RS797044802 IGHMBP2 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2S, Neuronopathy
RS797044803 IGHMBP2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Autosomal recessive distal spinal muscular atrophy 1
RS797044804 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MYH9-related disorder
RS797044806 XYLT2 Health Risk Pathogenic Spondylo-ocular syndrome, Inborn genetic diseases
RS797044807 XYLT2 Health Risk Pathogenic Spondylo-ocular syndrome, Spondylo-ocular syndrome
RS797044808 CLCN5 Health Risk Pathogenic/Likely pathogenic Dent disease type 1, CLCN5-related disorder
RS797044810 CLCN5 Health Risk Pathogenic Dent disease type 1, Proteinuria
RS797044811 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS797044812 CLCN5 Health Risk Pathogenic/Likely pathogenic Dent disease type 1, Hypophosphatemic rickets
RS797044813 CLCN5 Health Risk Pathogenic Dent disease type 1, Proteinuria
RS797044814 CLCN5 Health Risk Pathogenic Dent disease type 1, X-linked recessive nephrolithiasis with renal failure
RS797044815 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS797044817 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS797044818 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, MCOLN1-related disorder
RS797044822 MCOLN1 Health Risk Pathogenic/Likely pathogenic Mucolipidosis type IV, Lisch epithelial corneal dystrophy
RS797044823 MCOLN1 Health Risk Pathogenic/Likely pathogenic Mucolipidosis type IV, Lisch epithelial corneal dystrophy
RS797044824 MCOLN1 Health Risk Pathogenic/Likely pathogenic Mucolipidosis type IV, Lisch epithelial corneal dystrophy
RS797044833 DVL1 Health Risk Pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS797044834 DVL1 Health Risk Pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS797044835 DVL1 Health Risk Pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS797044836 DVL1 Health Risk Pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS797044837 DVL1 Health Risk Pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS797044838 DVL1 Health Risk Pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS797044839 DVL1 Health Risk Pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 1
RS797044840 DVL1 Health Risk Pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS797044845 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS797044846 PMP22 Health Risk Pathogenic —
RS797044849 GRIN2B Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Intellectual disability
RS797044850 SPAST Health Risk Pathogenic Inborn genetic diseases, Hereditary spastic paraplegia 4
RS797044852 FKBP10 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044853 CHD8 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044854 ZMYND11 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Intellectual disability
RS797044855 GARS1 Health Risk Pathogenic Inborn genetic diseases, Spinal muscular atrophy
RS797044856 SMARCA4 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS797044857 GRHL3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044859 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044860 CREBBP Health Risk Pathogenic Inborn genetic diseases, Rubinstein-Taybi syndrome
RS797044861 SMC3 Health Risk Pathogenic Inborn genetic diseases, Cornelia de Lange syndrome 3
RS797044862 CUL4B Health Risk Pathogenic Inborn genetic diseases, X-linked intellectual disability Cabezas type
RS797044863 ZC4H2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044864 FTSJ1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044865 ATRX Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044867 COL4A1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Microangiopathy and leukoencephalopathy
RS797044868 NAA10 Health Risk Pathogenic Inborn genetic diseases, Ogden syndrome
RS797044869 SF3B4 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044870 CDC42 Health Risk Pathogenic Inborn genetic diseases, Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
RS797044871 CAV1 Health Risk Pathogenic Inborn genetic diseases, Congenital generalized lipodystrophy type 3
RS797044872 KCNC3 Health Risk Pathogenic Inborn genetic diseases, Spinocerebellar ataxia type 13
RS797044873 SNAP25 Health Risk Likely pathogenic Unilateral Hypotonia, Epilepsy with generalized tonic-clonic seizures
RS797044874 SATB2 Health Risk Pathogenic Inborn genetic diseases, Chromosome 2q32-q33 deletion syndrome
RS797044875 CTNNB1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Severe intellectual disability-progressive spastic diplegia syndrome
RS797044877 PHKA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glycogen storage disease IXa1
RS797044878 GNAO1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Neurodevelopmental disorder with involuntary movements
RS797044880 MYH10 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044881 CACNA1C Health Risk Pathogenic Inborn genetic diseases, Timothy syndrome
RS797044882 SMAD2 Health Risk Pathogenic Inborn genetic diseases, Congenital heart defects
RS797044883 MAGEL2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Schaaf-Yang syndrome
RS797044884 CLTC Health Risk Likely pathogenic Inborn genetic diseases, Intellectual disability
RS797044885 ZBTB18 Health Risk Pathogenic Inborn genetic diseases, Intellectual disability
RS797044886 HCFC1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044887 PDGFRB Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Acroosteolysis-keloid-like lesions-premature aging syndrome
RS797044888 RAD54L Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044889 IQSEC2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044890 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, KBG syndrome
RS797044891 TIMM50 Health Risk Pathogenic Inborn genetic diseases, 3-methylglutaconic aciduria type 9
RS797044892 MAPK1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044895 GNAS Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044896 SMC1A Health Risk Likely pathogenic Inborn genetic diseases, Congenital muscular hypertrophy-cerebral syndrome
RS797044897 ATP1A3 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Alternating hemiplegia of childhood 2
RS797044899 PCBP1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044900 ANKRD11 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, KBG syndrome
RS797044901 DYNC1H1 Health Risk Likely pathogenic Inborn genetic diseases, Intellectual disability
RS797044902 PKD1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Polycystic kidney disease
RS797044903 PLA2G6 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Infantile neuroaxonal dystrophy
RS797044904 DNMT3A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044906 FN1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044907 LRTOMT Health Risk Pathogenic Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 63
RS797044908 PHF6 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS797044909 VMA21 Health Risk Pathogenic X-linked myopathy with excessive autophagy, Inborn genetic diseases
RS797044910 PTEN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS797044911 NFIX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Malan overgrowth syndrome
RS797044912 CHD2 Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy 94
RS797044913 LRSAM1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P
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