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
RS1554597677 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554597716 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554597952 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1554598013 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHD7-related disorder
RS1554598029 CHD7 Health Risk Likely pathogenic Hepatocellular carcinoma, CHARGE syndrome
RS1554598891 TRPS1 Health Risk Likely pathogenic —
RS1554598994 TRPS1 Health Risk Pathogenic —
RS1554599035 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554599036 CHD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554599065 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554599411 TMEM70 Health Risk Pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS1554599462 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1554599616 THAP1 Health Risk Pathogenic Torsion dystonia 6, Torsion dystonia 6
RS1554599712 THAP1 Health Risk Pathogenic Torsion dystonia 6, Torsion dystonia 6
RS1554599983 THAP1 Health Risk Pathogenic Torsion dystonia 6, Torsion dystonia 6
RS1554600522 CHD7 Health Risk Pathogenic —
RS1554600530 CHD7 Health Risk Pathogenic —
RS1554600538 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554600633 CHD7 Health Risk Pathogenic —
RS1554601473 EXT1 Health Risk Pathogenic —
RS1554601474 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554601476 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554601481 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554601483 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554601492 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554601502 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554601504 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554601507 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554601519 EXT1 Health Risk Likely pathogenic —
RS1554601525 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554601526 EXT1 Health Risk Pathogenic Exostoses, multiple
RS1554601534 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554601550 EXT1 Health Risk Pathogenic —
RS1554601559 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554601568 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1554601654 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1554602459 CHD7 Health Risk Pathogenic —
RS1554602465 CHD7 Health Risk Pathogenic Inborn genetic diseases, CHARGE syndrome
RS1554602466 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554602557 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554602564 CHD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554602587 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1554602588 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1554603151 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554603276 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554603293 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1554603550 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHARGE syndrome
RS1554603552 CHD7 Health Risk Pathogenic CHARGE syndrome, CHD7-related disorder
RS1554603589 CHD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554603672 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1554603818 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554603963 CHD7 Health Risk Pathogenic —
RS1554603970 CHD7 Health Risk Pathogenic Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS1554604059 CHD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554604441 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554604482 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1554604525 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554604552 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Retinal dystrophy
RS1554604767 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Macular dystrophy
RS1554604771 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS1554604772 CHD7 Health Risk Pathogenic —
RS1554604775 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554604833 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1554604851 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1554604915 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554605030 CHD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554605128 CHD7 Health Risk Pathogenic —
RS1554605498 TTPA Health Risk Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS1554605631 TTPA Health Risk Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS1554605972 CHD7 Health Risk Pathogenic —
RS1554605973 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1554606033 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554606274 CHD7 Health Risk Pathogenic CHARGE syndrome, Inborn genetic diseases
RS1554606367 CHD7 Health Risk Likely pathogenic —
RS1554606375 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554606910 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1554607313 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1554607546 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia
RS1554607548 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554607553 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1554608319 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554609943 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1554609946 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554609956 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554609978 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1554610128 SYNE1 Health Risk Conflicting classifications of pathogenicity —
RS1554610191 RRM2B Health Risk Likely pathogenic —
RS1554610279 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554610284 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554610655 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554610668 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554611860 CNGB3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1554612093 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS1554612096 RAD21 Health Risk Pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS1554612145 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554612159 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Retinal dystrophy
RS1554612377 YWHAZ Health Risk Conflicting classifications of pathogenicity See cases, YWHAZ-related neurodevelopmental syndrome
RS1554612610 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554612805 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554612806 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
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