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
RS2464785458 LAMB3 Health Risk Likely pathogenic Amelogenesis imperfecta type 1A, Junctional epidermolysis bullosa gravis of Herlitz
RS2464785510 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464785543 USH2A Health Risk Pathogenic —
RS2464785754 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464785989 LAMB3 Health Risk Pathogenic —
RS2464786761 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464788700 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464788893 USH2A Health Risk Pathogenic —
RS2464788985 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS2464789229 USH2A Health Risk Pathogenic —
RS2464789583 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464789597 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464789623 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464789668 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464790714 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464791133 LAMB3 Health Risk Pathogenic —
RS2464791514 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464796651 LAMB3 Health Risk Pathogenic —
RS2464797223 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS2464797493 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464800376 LAMB3 Health Risk Likely pathogenic —
RS2464801036 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464811162 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464811602 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464811892 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464812020 USH2A Health Risk Pathogenic —
RS2464812402 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464812451 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464813040 LAMB3 Health Risk Likely pathogenic —
RS2464813722 LAMB3 Health Risk Pathogenic —
RS2464814471 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464815303 USH2A Health Risk Pathogenic —
RS2464815317 USH2A Health Risk Pathogenic —
RS2464815322 USH2A Health Risk Pathogenic —
RS2464815344 LAMB3 Health Risk Pathogenic —
RS2464815473 USH2A Health Risk Pathogenic —
RS2464815797 USH2A Health Risk Pathogenic —
RS2464815905 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464815939 USH2A Health Risk Pathogenic —
RS2464816025 USH2A Health Risk Pathogenic —
RS2464816066 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome, Usher syndrome
RS2464816091 USH2A Health Risk Pathogenic —
RS2464818105 LAMB3 Health Risk Pathogenic —
RS2464820348 LAMB3 Health Risk Pathogenic —
RS2464820450 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464820629 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464820641 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS2464820974 USH2A Health Risk Pathogenic —
RS2464821048 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2464821210 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS2464821247 USH2A Health Risk Pathogenic —
RS2464821278 USH2A Health Risk Pathogenic —
RS2464821346 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464826363 LAMB3 Health Risk Pathogenic —
RS2464831167 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464831400 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS2464831946 LAMB3 Health Risk Pathogenic/Likely pathogenic Amelogenesis imperfecta type 1A, Junctional epidermolysis bullosa gravis of Herlitz
RS2464832505 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464832578 LAMB3 Health Risk Pathogenic —
RS2464832936 LAMB3 Health Risk Pathogenic —
RS2464833004 LAMB3 Health Risk Pathogenic —
RS2464837989 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464838281 LAMB3 Health Risk Pathogenic —
RS2464838549 LAMB3 Health Risk Pathogenic —
RS2464838895 LAMB3 Health Risk Likely pathogenic —
RS2464840483 CASQ2 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS2464849694 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464849823 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS2464855082 LAMB3 Health Risk Pathogenic —
RS2464855898 LAMB3 Health Risk Pathogenic —
RS2464855992 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464856641 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2464865429 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2464865520 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2464865768 TGFB2 Health Risk Likely pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2464866736 LAMB3 Health Risk Pathogenic —
RS2464867276 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464871402 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2464871425 LAMB3 Health Risk Pathogenic —
RS2464872489 TGFB2 Health Risk Likely pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2464877162 TGFB2 Health Risk Likely pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2464877339 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2464877549 TGFB2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2464878008 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2464878925 LAMB3 Health Risk Likely pathogenic —
RS2464879272 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464879558 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464880004 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464880278 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464880303 USH2A Health Risk Pathogenic —
RS2464880318 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464880422 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2464880681 LAMB3 Health Risk Pathogenic —
RS2464880690 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2464880702 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464880797 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS2464881098 USH2A Health Risk Pathogenic —
RS2464881331 USH2A Health Risk Pathogenic —
RS2464881435 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464881561 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
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