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
RS2464203420 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2464204681 PHGDH Health Risk Pathogenic/Likely pathogenic PHGDH deficiency, Neu-Laxova syndrome 1
RS2464205035 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2464209193 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2464209283 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2464242372 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS2464283434 HMGCS2 Health Risk Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS2464382555 FLVCR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2464382987 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2464383008 USH2A Health Risk Pathogenic —
RS2464383340 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464383347 USH2A Health Risk Pathogenic —
RS2464383506 USH2A Health Risk Pathogenic —
RS2464383788 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464385404 FLVCR1 Health Risk Likely pathogenic Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
RS2464391048 CACNA1S Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2464391439 USH2A Health Risk Pathogenic —
RS2464391471 USH2A Health Risk Likely pathogenic —
RS2464391538 USH2A Health Risk Pathogenic —
RS2464391547 USH2A Health Risk Pathogenic —
RS2464391737 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464391981 USH2A Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 36, Autosomal dominant nonsyndromic hearing loss 36
RS2464393390 CACNA1S Health Risk Likely pathogenic Hypokalemic periodic paralysis, type 1
RS2464394047 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464394078 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464394129 USH2A Health Risk Pathogenic —
RS2464394351 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2464394481 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464394589 USH2A Health Risk Pathogenic —
RS2464394627 USH2A Health Risk Pathogenic —
RS2464395714 NEK2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2464407470 USH2A Health Risk Likely pathogenic —
RS2464408563 USH2A Health Risk Pathogenic —
RS2464419297 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464419372 USH2A Health Risk Pathogenic —
RS2464419618 USH2A Health Risk Pathogenic —
RS2464419631 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2464420419 USH2A Health Risk Pathogenic —
RS2464420459 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464443860 CACNA1S Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS2464443951 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS2464447576 CACNA1S Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS2464453425 USH2A Health Risk Likely pathogenic —
RS2464453903 USH2A Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2464454319 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464454456 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464454827 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464454878 USH2A Health Risk Pathogenic —
RS2464486306 CACNA1S Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS2464489779 CACNA1S Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS2464500607 FLVCR1 Health Risk Pathogenic/Likely pathogenic —
RS2464500667 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS2464500986 CACNA1S Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS2464501346 CACNA1S Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS2464503884 CACNA1S Health Risk Likely pathogenic CACNA1S-related disorder, CACNA1S-related disorder
RS2464509136 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464509310 USH2A Health Risk Pathogenic —
RS2464509424 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464509489 USH2A Health Risk Pathogenic —
RS2464509726 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464518149 CACNA1S Health Risk Likely pathogenic Hypokalemic periodic paralysis, type 1
RS2464519932 USH2A Health Risk Pathogenic —
RS2464520346 USH2A Health Risk Pathogenic —
RS2464520593 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464520880 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS2464521243 USH2A Health Risk Likely pathogenic —
RS2464521290 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464534175 CACNA1S Health Risk Likely pathogenic Hypokalemic periodic paralysis, type 1
RS2464536840 CACNA1S Health Risk Pathogenic Congenital myopathy 18, Congenital myopathy 18
RS2464539498 CACNA1S Health Risk Likely pathogenic Hypokalemic periodic paralysis, type 1
RS2464539907 CACNA1S Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS2464546834 CACNA1S Health Risk Pathogenic Congenital myopathy 18, Congenital myopathy 18
RS2464547155 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS2464548163 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2464548279 TGFB2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2464548369 TGFB2 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2464548803 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2464549208 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2464549704 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2464550705 TGFB2 Health Risk Pathogenic Loeys-Dietz syndrome 4, Loeys-Dietz syndrome 4
RS2464555363 RD3 Health Risk Pathogenic Leber congenital amaurosis 12, Leber congenital amaurosis 12
RS2464559610 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS2464567071 CACNA1S Health Risk Likely pathogenic Hypokalemic periodic paralysis, type 1
RS2464577479 KCTD3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2464580469 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2464585937 USH2A Health Risk Pathogenic —
RS2464586085 USH2A Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2464586115 USH2A Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2464586191 USH2A Health Risk Pathogenic —
RS2464587956 ARF1 Health Risk Pathogenic —
RS2464589957 CACNA1S Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS2464590088 CACNA1S Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS2464605797 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464606136 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2464606585 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464610781 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464611712 USH2A Health Risk Pathogenic —
RS2464611968 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2464612427 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2464613552 CACNA1S Health Risk Pathogenic —
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