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
RS2131776130 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2131776376 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS2131776422 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2131776450 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS2131776743 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS2131778479 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2131778656 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2131785934 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131786060 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS2131786241 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131786544 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131791254 LGI3 Health Risk Pathogenic Peripheral nerve hyperexcitability syndrome, Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
RS2131791567 LGI3 Health Risk Pathogenic Peripheral nerve hyperexcitability syndrome, Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
RS2131791741 LGI3 Health Risk Pathogenic Peripheral nerve hyperexcitability syndrome, Peripheral nerve hyperexcitability syndrome
RS2131792567 MINPP1 Health Risk Likely pathogenic Pontocerebellar hypoplasia, type 16
RS2131793302 MINPP1 Health Risk Pathogenic Pontocerebellar hypoplasia, type 16
RS2131795370 DOCK8 Health Risk Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2131796660 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS2131796689 LGI3 Health Risk Pathogenic Peripheral nerve hyperexcitability syndrome, Peripheral nerve hyperexcitability syndrome
RS2131797156 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS2131803905 C5 Health Risk Pathogenic —
RS2131806725 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS2131807821 TSC1 Health Risk Pathogenic —
RS2131808768 RMRP Health Risk Pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS2131809131 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131809417 RMRP Health Risk Pathogenic/Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS2131809449 RMRP Health Risk Pathogenic/Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS2131809458 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131809467 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS2131809514 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131809584 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131809702 RMRP Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia, Anauxetic dysplasia
RS2131809737 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131809742 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131809743 ZMYND11 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 30
RS2131809783 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS2131809894 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131809930 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131809964 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS2131809978 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS2131810104 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131810166 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131810269 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131810278 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131810342 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS2131810674 ZMYND11 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 30
RS2131811032 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131811653 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131812351 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131813354 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131814069 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2131814973 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131815084 MINPP1 Health Risk Pathogenic Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS2131815446 SFTPC Health Risk Likely pathogenic Surfactant metabolism dysfunction, pulmonary
RS2131816800 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131816806 SFTPC Health Risk Conflicting classifications of pathogenicity Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS2131817146 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131817329 SFTPC Health Risk Likely pathogenic Surfactant metabolism dysfunction, pulmonary
RS2131818738 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131819081 SFTPC Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS2131820258 DNAJC12 Health Risk Likely pathogenic —
RS2131820351 DNAJC12 Health Risk Likely pathogenic —
RS2131820356 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS2131820786 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome type 1
RS2131820994 SFTPC Health Risk Likely pathogenic Surfactant metabolism dysfunction, pulmonary
RS2131821679 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131821838 TSC1 Health Risk Pathogenic —
RS2131822866 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131823012 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131827015 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131830295 BMP1 Health Risk Pathogenic —
RS2131832036 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131833003 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131839011 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS2131841336 TSC1 Health Risk Likely pathogenic —
RS2131842617 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS2131843217 TSC1 Health Risk Pathogenic —
RS2131843731 TPM2 Health Risk Likely pathogenic Congenital myopathy 23, Congenital myopathy 23
RS2131844654 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS2131844956 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131845016 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome type 1, Proteinuria
RS2131847938 ELN Health Risk Pathogenic/Likely pathogenic Supravalvar aortic stenosis, Cutis laxa
RS2131850310 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131851477 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS2131851851 SPTAN1 Health Risk Likely pathogenic See cases, See cases
RS2131851980 TPM2 Health Risk Likely pathogenic Arthrogryposis, distal
RS2131852702 TPM2 Health Risk Pathogenic Arthrogryposis, distal
RS2131853219 TPM2 Health Risk Likely pathogenic Arthrogryposis, distal
RS2131855526 BMP1 Health Risk Likely pathogenic Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13
RS2131856285 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2131858633 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2131863156 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS2131863384 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131863502 TRPM3 Health Risk Likely pathogenic —
RS2131863686 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS2131863747 TRPM3 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with hypotonia, dysmorphic facies
RS2131865150 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2131869276 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS2131869283 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS2131869439 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
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