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
RS2464889047 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2464889182 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2464889682 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464889778 TGFB2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2464889869 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464892907 USH2A Health Risk Pathogenic —
RS2464892983 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464893043 CASQ2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 2
RS2464893056 USH2A Health Risk Pathogenic —
RS2464893490 USH2A Health Risk Pathogenic —
RS2464893776 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464894173 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464894203 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464894227 USH2A Health Risk Pathogenic —
RS2464894271 LAMB3 Health Risk Pathogenic —
RS2464894707 LAMB3 Health Risk Pathogenic —
RS2464894731 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome
RS2464894738 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464894799 USH2A Health Risk Pathogenic —
RS2464894805 USH2A Health Risk Pathogenic —
RS2464894855 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464894863 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464895063 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464895076 USH2A Health Risk Pathogenic —
RS2464895579 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464895697 USH2A Health Risk Pathogenic —
RS2464895878 USH2A Health Risk Pathogenic —
RS2464896005 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2464896029 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS2464896233 USH2A Health Risk Pathogenic —
RS2464896470 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2464896591 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464896614 USH2A Health Risk Pathogenic —
RS2464896721 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464896898 USH2A Health Risk Pathogenic —
RS2464897177 USH2A Health Risk Pathogenic —
RS2464897606 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464897719 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464898391 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464898563 USH2A Health Risk Pathogenic —
RS2464898633 USH2A Health Risk Pathogenic —
RS2464898805 USH2A Health Risk Pathogenic Usher syndrome type 2A, USH2A-related disorder
RS2464898853 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464898978 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464899060 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464899127 LAMB3 Health Risk Pathogenic —
RS2464900186 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464900334 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464900474 USH2A Health Risk Likely pathogenic Retinal dystrophy, Usher syndrome type 2A
RS2464900592 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2464901141 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS2464907770 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2464914539 USH2A Health Risk Conflicting classifications of pathogenicity —
RS2464914594 USH2A Health Risk Pathogenic —
RS2464914741 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2464914796 USH2A Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2464914936 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464915018 USH2A Health Risk Pathogenic —
RS2464915266 USH2A Health Risk Conflicting classifications of pathogenicity —
RS2464915337 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464915353 USH2A Health Risk Pathogenic —
RS2464926753 FAM110C Health Risk Pathogenic Streaky metaphyseal sclerosis, Aplasia/Hypoplasia of the phalanges of the 4th toe
RS2464953434 LAMB3 Health Risk Likely pathogenic —
RS2464953951 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464954277 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464954336 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2465023834 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2465024035 CRB1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2465024880 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2465025258 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2465025318 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2465025960 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2465027395 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2465028311 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Retinitis pigmentosa 12
RS2465028490 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2465029830 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2465029967 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2465030529 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2465030583 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2465032365 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2465032420 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2465032554 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2465033087 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2465035373 PDIA6 Health Risk Likely pathogenic See cases, See cases
RS2465049265 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465049885 USH2A Health Risk Pathogenic —
RS2465049992 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465050068 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465050181 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465050419 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465058221 PYCR2 Health Risk Pathogenic —
RS2465067467 USH2A Health Risk Conflicting classifications of pathogenicity —
RS2465067498 USH2A Health Risk Likely pathogenic —
RS2465067612 USH2A Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2465067641 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2465067746 USH2A Health Risk Pathogenic USH2A-related disorder, USH2A-related disorder
RS2465067754 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465067786 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465069905 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465070006 USH2A Health Risk Pathogenic —
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