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
RS863223655 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, JAG1-related disorder
RS863223661 JAG1 Health Risk Pathogenic —
RS863223662 JAG1 Health Risk Pathogenic —
RS863223663 JAG1 Health Risk Pathogenic —
RS863223664 JAG1 Health Risk Pathogenic —
RS863223665 JAG1 Health Risk Pathogenic —
RS863223666 JAG1 Health Risk Pathogenic —
RS863223667 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS863223668 JAG1 Health Risk Pathogenic —
RS863223669 JAG1 Health Risk Pathogenic —
RS863223670 JAG1 Health Risk Pathogenic —
RS863223672 JAG1 Health Risk Pathogenic —
RS863223673 JAG1 Health Risk Pathogenic —
RS863223674 JAG1 Health Risk Pathogenic —
RS863223675 JAG1 Health Risk Pathogenic —
RS863223676 JAG1 Health Risk Pathogenic —
RS863223677 JAG1 Health Risk Pathogenic/Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS863223678 JAG1 Health Risk Pathogenic —
RS863223679 JAG1 Health Risk Likely pathogenic —
RS863223680 JAG1 Health Risk Pathogenic —
RS863223682 JAG1 Health Risk Pathogenic —
RS863223683 JAG1 Health Risk Pathogenic —
RS863223684 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
RS863223690 LAMA4 Health Risk Likely pathogenic —
RS863223696 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome 1, Inborn genetic diseases
RS863223699 MED12 Health Risk Likely pathogenic MED12-related intellectual disability syndrome, MED12-related intellectual disability syndrome
RS863223706 MED12 Health Risk Pathogenic/Likely pathogenic FG syndrome 1, X-linked intellectual disability with marfanoid habitus
RS863223718 RASA1 Health Risk Pathogenic Basal cell carcinoma, susceptibility to
RS863223719 RASA1 Health Risk Pathogenic —
RS863223720 RASA1 Health Risk Pathogenic —
RS863223721 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS863223722 SKI Health Risk Pathogenic/Likely pathogenic Shprintzen-Goldberg syndrome, Inborn genetic diseases
RS863223724 SKI Health Risk Likely pathogenic —
RS863223728 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS863223736 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial aortopathy, Familial thoracic aortic aneurysm and aortic dissection
RS863223737 SMAD3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223738 SMAD3 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223739 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223740 SMAD3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, SMAD3-related disorder
RS863223741 SMAD3 Health Risk Likely pathogenic —
RS863223746 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Isolated thoracic aortic aneurysm
RS863223750 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223754 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223755 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223756 SMAD3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223757 SMAD3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223759 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223761 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome
RS863223762 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223765 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS863223768 SMAD3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223769 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223770 SMAD3 Health Risk Pathogenic —
RS863223771 SMAD3 Health Risk Pathogenic —
RS863223773 TBX5 Health Risk Pathogenic —
RS863223776 TBX5 Health Risk Pathogenic/Likely pathogenic TBX5-related disorder, Holt-Oram syndrome
RS863223777 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS863223778 TBX5 Health Risk Likely pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS863223782 TBX5 Health Risk Likely pathogenic —
RS863223783 TBX5 Health Risk Pathogenic —
RS863223784 TBX5 Health Risk Pathogenic —
RS863223785 TBX5 Health Risk Pathogenic —
RS863223786 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS863223788 TBX5 Health Risk Pathogenic Aortic valve disease 2, Holt-Oram syndrome
RS863223790 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS863223792 TGFB2 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome 4, Familial aortopathy
RS863223793 TGFB2 Health Risk Likely pathogenic —
RS863223795 TGFB2 Health Risk Likely pathogenic —
RS863223796 TGFB2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 4
RS863223797 TGFB2 Health Risk Pathogenic —
RS863223802 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223807 TGFBR1 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection
RS863223810 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome
RS863223811 TGFBR1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS863223812 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223813 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223814 TGFBR1 Health Risk Likely pathogenic —
RS863223815 TGFBR1 Health Risk Likely pathogenic —
RS863223816 TGFBR1 Health Risk Likely pathogenic —
RS863223817 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223818 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome
RS863223819 TGFBR1 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection
RS863223822 TGFBR1 Health Risk Likely pathogenic —
RS863223829 TGFBR1 Health Risk Pathogenic Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS863223831 TGFBR1 Health Risk Likely pathogenic —
RS863223832 TGFBR1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
RS863223837 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Loeys-Dietz syndrome 2, Diabetic retinopathy
RS863223838 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital aneurysm of ascending aorta
RS863223841 TGFBR2 Health Risk Likely pathogenic —
RS863223842 TGFBR2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS863223843 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS863223845 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223847 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223848 TGFBR2 Health Risk Likely pathogenic —
RS863223849 TGFBR2 Health Risk Pathogenic —
RS863223850 TGFBR2 Health Risk Likely pathogenic —
RS863223851 TGFBR2 Health Risk Likely pathogenic —
RS863223852 TGFBR2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS863223853 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Isolated thoracic aortic aneurysm
RS863223854 TGFBR2 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
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