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
RS2089598055 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS2089614259 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2089620653 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2089664458 HPS4 Health Risk Pathogenic —
RS2089667956 PPP2R1A Health Risk Conflicting classifications of pathogenicity Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS2089677596 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2089684117 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2089686081 PPP2R1A Health Risk Conflicting classifications of pathogenicity Houge-Janssens syndrome 2, See cases
RS2089687765 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2089688265 PPP2R1A Health Risk Conflicting classifications of pathogenicity Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS2089688512 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2089694729 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2089695236 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2089755918 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2089786684 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089792021 BGN Health Risk Conflicting classifications of pathogenicity Meester-Loeys syndrome, Meester-Loeys syndrome
RS2089803859 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2089819688 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089821106 TSC2 Health Risk Conflicting classifications of pathogenicity Lymphangiomyomatosis, Tuberous sclerosis 2
RS2089827541 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089834376 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089838149 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089839448 POMGNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2089840483 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089842285 POMGNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2089847365 POMGNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2089847916 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2089853535 POMGNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2089873322 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089878502 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089893983 SMARCA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SMARCA4-related disorder
RS2089956522 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089974938 GNAS Health Risk Likely pathogenic Pseudohypoparathyroidism, Pseudohypoparathyroidism
RS2089984034 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2090019809 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2090026473 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2090026700 RTEL1 Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2090027846 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2090036916 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2090039606 FGF13 Health Risk Pathogenic Developmental and epileptic encephalopathy, 90
RS2090039732 FGF13 Health Risk Pathogenic Developmental and epileptic encephalopathy, 90
RS2090039774 FGF13 Health Risk Pathogenic Developmental and epileptic encephalopathy, 90
RS2090043175 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2090068896 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2090069178 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2090070597 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS2090080350 LOC130065345;PANK2 Health Risk Pathogenic —
RS2090097617 UNC80 Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS2090100956 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2090111362 CHRDL1 Health Risk Pathogenic Megalocornea, Megalocornea
RS2090159838 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090162979 ABHD12 Health Risk Pathogenic —
RS2090169575 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090170656 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090171531 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2090256621 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2090415795 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2090423688 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090429801 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2090436424 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS2090437677 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, TSC2-related disorder
RS2090447154 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS2090456897 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2090460301 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2090461817 RTEL1 Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2090472968 TTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2090477253 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090482332 PANK2 Health Risk Likely pathogenic —
RS2090489083 TPM4 Health Risk Pathogenic Bleeding disorder, platelet-type
RS2090492186 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090496214 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090513299 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2090515872 ELP2 Health Risk Likely pathogenic Profound intellectual disability, Profound intellectual disability
RS2090516898 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090517382 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS2090524176 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090530802 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090534289 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS2090538754 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2090542594 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090570190 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2090571332 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2090572220 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2090573767 RTEL1 Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2090574236 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS2090581105 RTEL1 Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2090601115 PANK2 Health Risk Likely pathogenic —
RS2090601656 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2090620654 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2090622255 TSC2 Health Risk Pathogenic Lymphangiomyomatosis, Tuberous sclerosis 2
RS2090626831 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090628516 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2090629495 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2090634528 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS2090639016 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2090650922 CNKSR2 Health Risk Pathogenic —
RS2090674561 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2090674600 PANK2 Health Risk Pathogenic/Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS2090675337 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2090682958 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
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