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
RS2538069785 PTCH1 Health Risk Pathogenic/Likely pathogenic Gorlin syndrome, Basal cell nevus syndrome 1
RS2538071871 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2538074016 ABCA1 Health Risk Pathogenic —
RS2538074773 VPS13A Health Risk Likely pathogenic —
RS2538074780 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2538075794 VPS13A Health Risk Pathogenic —
RS2538076085 VPS13A Health Risk Pathogenic —
RS2538076156 VPS13A Health Risk Pathogenic —
RS2538076180 VPS13A Health Risk Pathogenic —
RS2538077097 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2538077693 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538077890 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538077953 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538078005 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS2538078719 VPS13A Health Risk Pathogenic —
RS2538078976 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2538078988 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538079030 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538079136 VPS13A Health Risk Pathogenic —
RS2538079393 CNGB3 Health Risk Pathogenic —
RS2538079442 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS2538079565 PTCH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538079969 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538080058 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2538080332 VPS13A Health Risk Pathogenic —
RS2538080390 VPS13A Health Risk Pathogenic —
RS2538080572 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538080888 PGM3 Health Risk Likely pathogenic Immunodeficiency 23, Immunodeficiency 23
RS2538081181 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS2538082405 CNGB3 Health Risk Pathogenic —
RS2538082411 CNGB3 Health Risk Likely pathogenic —
RS2538082676 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS2538082852 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2538086204 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2538086728 CNGB3 Health Risk Likely pathogenic —
RS2538086825 CNGB3 Health Risk Pathogenic —
RS2538087128 CNGB3 Health Risk Pathogenic —
RS2538087203 CNGB3 Health Risk Pathogenic —
RS2538089904 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2538092118 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2538092564 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2538093466 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS2538093611 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538093798 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2538093912 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538093992 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538094600 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS2538095264 VPS13A Health Risk Pathogenic —
RS2538095587 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538095961 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538096964 IKZF1 Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS2538098365 NFIB Health Risk Pathogenic —
RS2538098825 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS2538098961 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS2538099164 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2538099260 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2538099581 VPS13A Health Risk Pathogenic —
RS2538099860 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS2538099867 CNGB3 Health Risk Pathogenic —
RS2538099917 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS2538099930 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS2538099980 CNGB3 Health Risk Likely pathogenic —
RS2538102032 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2538102257 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS2538103428 IKZF1 Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS2538105784 PLEC Health Risk Likely pathogenic Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex with nail dystrophy
RS2538108657 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS2538111559 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2538112218 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2538113308 RECQL4 Health Risk Pathogenic/Likely pathogenic Baller-Gerold syndrome, Congenital heart disease
RS2538113345 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2538114200 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2538114522 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2538115028 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2538115342 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2538116567 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2538118927 ABCA1 Health Risk Likely pathogenic —
RS2538121557 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2538122346 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS2538122419 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2538122605 VPS13A Health Risk Pathogenic —
RS2538123289 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS2538123823 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2538124528 CNGB3 Health Risk Pathogenic —
RS2538124540 CNGB3 Health Risk Pathogenic —
RS2538125004 CNGB3 Health Risk Likely pathogenic —
RS2538126079 CNGB3 Health Risk Likely pathogenic —
RS2538126335 CNGB3 Health Risk Pathogenic —
RS2538128683 HERC1 Health Risk Pathogenic —
RS2538129234 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2538129419 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538129724 CNGB3 Health Risk Pathogenic —
RS2538130444 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538131332 PTCH1 Health Risk Pathogenic —
RS2538131347 NDRG1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2538131547 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538132204 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2538132971 VPS13A Health Risk Pathogenic —
RS2538133063 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2538133201 VPS13A Health Risk Pathogenic —
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