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
RS2540158696 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS2540158727 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540158762 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540158812 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540158867 COL2A1 Health Risk Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2540158883 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Telangiectasia
RS2540158927 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Telangiectasia
RS2540158947 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540159066 COL2A1 Health Risk Likely pathogenic —
RS2540159072 COL2A1 Health Risk Pathogenic —
RS2540159161 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540159181 ACVRL1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Telangiectasia
RS2540159252 SCN8A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2540159312 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540159358 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540159366 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540159380 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540160334 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540160367 PEX5 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2540160434 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia
RS2540160443 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540160515 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540160601 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540160610 ACVRL1 Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2540160709 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540160726 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540160873 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540160931 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS2540160953 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540161015 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540161495 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2540161536 ACVRL1 Health Risk Pathogenic —
RS2540161639 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540161650 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540161714 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540162521 ACVRL1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Telangiectasia
RS2540162558 ACVRL1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Telangiectasia
RS2540162561 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540162613 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540162624 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540162683 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2540162684 ACVRL1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Telangiectasia
RS2540162715 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia
RS2540162760 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia
RS2540162764 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia
RS2540162791 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540162912 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540162946 ACVRL1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Telangiectasia
RS2540164081 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540164101 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540164135 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540164174 ACVRL1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Telangiectasia
RS2540164204 ACVRL1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Telangiectasia
RS2540164230 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540164236 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540164261 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540164275 ACVRL1 Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS2540164298 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540164313 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540164315 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia
RS2540164341 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540164351 ACVRL1 Health Risk Pathogenic —
RS2540164407 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540164448 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540164499 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540164531 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Telangiectasia
RS2540164593 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540164646 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540164669 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540164690 ACVRL1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Telangiectasia
RS2540164694 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2540164709 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540164775 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Telangiectasia
RS2540164781 ACVRL1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Telangiectasia
RS2540164787 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540164860 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540164872 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540164910 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540164963 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540164997 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2540165022 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540165040 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS2540165246 DIP2B Health Risk Likely pathogenic Intellectual disability, FRA12A type
RS2540165425 COL2A1 Health Risk Pathogenic/Likely pathogenic —
RS2540165606 COL2A1 Health Risk Likely pathogenic —
RS2540165622 COL2A1 Health Risk Pathogenic —
RS2540165666 COL2A1 Health Risk Pathogenic —
RS2540165717 COL2A1 Health Risk Likely pathogenic —
RS2540165725 COL2A1 Health Risk Likely pathogenic —
RS2540166457 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540166475 ACVRL1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Telangiectasia
RS2540166517 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Telangiectasia
RS2540166738 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2540166760 ACVRL1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540167313 COL2A1 Health Risk Pathogenic —
RS2540167332 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2540168498 COL2A1 Health Risk Likely pathogenic —
RS2540168512 COL2A1 Health Risk Pathogenic —
RS2540168526 COL2A1 Health Risk Likely pathogenic —
RS2540168566 COL2A1 Health Risk Likely pathogenic —
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