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
RS2505625639 ABCA3 Health Risk Pathogenic —
RS2505627227 ABCA3 Health Risk Pathogenic —
RS2505627637 ABCA3 Health Risk Pathogenic —
RS2505628295 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505628570 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505628734 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2505628775 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505628872 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505628916 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505629014 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505629043 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505629049 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505629437 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505629444 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505629761 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505632878 ABCA3 Health Risk Pathogenic ABCA3-related disorder, ABCA3-related disorder
RS2505637295 ABCA3 Health Risk Likely pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS2505637318 ABCA3 Health Risk Pathogenic ABCA3-related disorder, ABCA3-related disorder
RS2505637621 ABCA3 Health Risk Pathogenic See cases, See cases
RS2505639879 ABCA3 Health Risk Pathogenic/Likely pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS2505640596 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505640641 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505640690 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505640756 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505640829 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505640863 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505641058 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505641147 FBN1 Health Risk Likely pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Familial thoracic aortic aneurysm and aortic dissection
RS2505641667 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505641876 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505642017 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS2505642538 ABCA3 Health Risk Pathogenic —
RS2505649915 ABCA3 Health Risk Pathogenic Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS2505649944 ABCA3 Health Risk Pathogenic —
RS2505649979 ABCA3 Health Risk Pathogenic —
RS2505650118 ABCA3 Health Risk Likely pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS2505650129 ABCA3 Health Risk Pathogenic Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS2505655382 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505655477 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505655528 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505661150 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505661178 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505661213 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505661297 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505661362 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505661366 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505661388 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505661421 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505661537 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505661631 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505661649 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505665428 ABCA3 Health Risk Likely pathogenic —
RS2505665944 ABCA3 Health Risk Likely pathogenic —
RS2505666185 ABCA3 Health Risk Pathogenic —
RS2505669390 ABCA3 Health Risk Pathogenic —
RS2505674367 ABCA3 Health Risk Pathogenic/Likely pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS2505674511 ABCA3 Health Risk Pathogenic —
RS2505675549 ABCA3 Health Risk Pathogenic —
RS2505688985 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2505689036 ALPK3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2505689216 ALPK3 Health Risk Pathogenic —
RS2505689253 ALPK3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiomyopathy
RS2505689293 ALPK3 Health Risk Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS2505689457 ALPK3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2505697157 ALPK3 Health Risk Likely pathogenic —
RS2505697249 ALPK3 Health Risk Pathogenic —
RS2505697321 ALPK3 Health Risk Likely pathogenic —
RS2505703836 ALPK3 Health Risk Likely pathogenic —
RS2505704683 ALPK3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2505704730 ALPK3 Health Risk Pathogenic —
RS2505704743 ALPK3 Health Risk Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS2505704995 ALPK3 Health Risk Pathogenic —
RS2505705246 ALPK3 Health Risk Pathogenic —
RS2505705290 ALPK3 Health Risk Pathogenic —
RS2505705330 ALPK3 Health Risk Pathogenic —
RS2505705477 ALPK3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2505705529 ALPK3 Health Risk Pathogenic —
RS2505705611 ALPK3 Health Risk Pathogenic —
RS2505705712 ALPK3 Health Risk Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS2505705775 ALPK3 Health Risk Pathogenic —
RS2505705877 ALPK3 Health Risk Pathogenic Cardiomyopathy, Cardiomyopathy
RS2505705919 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2505705946 ALPK3 Health Risk Pathogenic —
RS2505705997 ALPK3 Health Risk Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS2505706045 ALPK3 Health Risk Pathogenic —
RS2505706216 ALPK3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2505706288 ALPK3 Health Risk Pathogenic —
RS2505706434 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2505706790 ALPK3 Health Risk Pathogenic —
RS2505706890 ALPK3 Health Risk Pathogenic —
RS2505707106 ALPK3 Health Risk Pathogenic Cardiomyopathy, Cardiomyopathy
RS2505707123 ALPK3 Health Risk Likely pathogenic —
RS2505710044 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS2505710985 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505711019 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505715181 ROGDI Health Risk Likely pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS2505719092 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2505719200 ALPK3 Health Risk Pathogenic —
RS2505719263 ALPK3 Health Risk Pathogenic —
RS2505719344 ALPK3 Health Risk Pathogenic/Likely pathogenic —
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