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
RS863223421 BMPR2 Health Risk Likely pathogenic —
RS863223422 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS863223423 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Pulmonary arterial hypertension
RS863223424 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS863223425 BMPR2 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS863223426 BMPR2 Health Risk Pathogenic/Likely pathogenic Pulmonary hypertension, primary
RS863223430 CBS Health Risk Pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS863223432 CBS Health Risk Pathogenic/Likely pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS863223433 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS863223434 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS863223435 CBS Health Risk Pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS863223439 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS863223440 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS863223444 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS863223445 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS863223448 COL5A1 Health Risk Likely pathogenic —
RS863223451 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS863223452 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS863223453 COL5A1 Health Risk Likely pathogenic —
RS863223454 COL5A1 Health Risk Pathogenic —
RS863223457 COL5A1 Health Risk Likely pathogenic —
RS863223458 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS863223459 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS863223460 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS863223461 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS863223462 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS863223463 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS863223467 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS863223469 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS863223470 COL5A1 Health Risk Pathogenic —
RS863223471 COL5A1 Health Risk Pathogenic —
RS863223472 COL5A1 Health Risk Pathogenic —
RS863223473 COL5A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS863223474 COL5A1 Health Risk Pathogenic —
RS863223475 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS863223478 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS863223481 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS863223482 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS863223483 COL5A1 Health Risk Likely pathogenic —
RS863223488 COL5A2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223491 COL5A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS863223496 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS863223513 ELN Health Risk Pathogenic —
RS863223516 ELN Health Risk Likely pathogenic —
RS863223518 ELN Health Risk Pathogenic/Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS863223519 ELN Health Risk Pathogenic —
RS863223520 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS863223521 ELN Health Risk Pathogenic —
RS863223522 ELN Health Risk Pathogenic —
RS863223524 ELN Health Risk Pathogenic —
RS863223526 ELN Health Risk Pathogenic —
RS863223527 ELN Health Risk Pathogenic —
RS863223528 ELN Health Risk Pathogenic —
RS863223532 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS863223534 ENG Health Risk Pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS863223535 ENG Health Risk Pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS863223536 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS863223537 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS863223538 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS863223539 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS863223540 ENG Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS863223541 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS863223542 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS863223543 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS863223546 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS863223547 FBN2 Health Risk Pathogenic —
RS863223554 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS863223562 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS863223565 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS863223566 FBN2 Health Risk Likely pathogenic —
RS863223567 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS863223570 FBN2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223572 FBN2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS863223582 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS863223586 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS863223593 FBN2 Health Risk Likely pathogenic —
RS863223599 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS863223602 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS863223604 FBN2 Health Risk Likely pathogenic —
RS863223612 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS863223615 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS863223617 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS863223618 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS863223620 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS863223623 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS863223626 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS863223630 FLNA Health Risk Pathogenic/Likely pathogenic Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS863223632 FLNA Health Risk Pathogenic —
RS863223633 FLNA Health Risk Pathogenic —
RS863223634 FLNA Health Risk Pathogenic —
RS863223635 FLNA Health Risk Likely pathogenic Heterotopia, periventricular
RS863223636 FLNA Health Risk Pathogenic/Likely pathogenic Heterotopia, periventricular
RS863223639 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS863223641 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS863223645 FLNA Health Risk Pathogenic —
RS863223646 FLNA Health Risk Pathogenic —
RS863223648 JAG1 Health Risk Pathogenic Atypical coarctation of aorta, Alagille syndrome due to a JAG1 point mutation
RS863223649 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS863223650 JAG1 Health Risk Pathogenic/Likely pathogenic Alagille syndrome due to a JAG1 point mutation, JAG1-related disorder
RS863223651 JAG1 Health Risk Likely pathogenic —
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