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
RS2147253978 HCCS Health Risk Pathogenic —
RS2147255485 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147256585 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Developmental delay
RS2147256596 MORC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2Z, Developmental delay
RS2147257137 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147257169 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147257524 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS2147257944 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147258522 CNKSR2 Health Risk Pathogenic —
RS2147258610 IL1RAPL1 Health Risk Likely pathogenic Intellectual disability, X-linked 21
RS2147258619 IL1RAPL1 Health Risk Pathogenic —
RS2147258658 IL1RAPL1 Health Risk Likely pathogenic —
RS2147258665 IL1RAPL1 Health Risk Likely pathogenic —
RS2147258786 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147258889 DMD Health Risk Pathogenic —
RS2147259120 TLR8 Health Risk Pathogenic INFLTR8, Immunodeficiency 98 with autoinflammation
RS2147259265 IL1RAPL1 Health Risk Likely pathogenic Intellectual disability, X-linked 21
RS2147260712 DMD Health Risk Pathogenic —
RS2147261153 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2147261270 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147261624 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2147261738 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2147261937 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2147262363 USP9X Health Risk Pathogenic —
RS2147262405 USP9X Health Risk Pathogenic Intellectual disability, X-linked 99
RS2147262523 WAS Health Risk Likely pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS2147262624 DCX Health Risk Pathogenic —
RS2147262778 WAS Health Risk Likely pathogenic —
RS2147262801 DCX Health Risk Pathogenic Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation
RS2147262809 WAS Health Risk Pathogenic Thrombocytopenia 1, X-linked severe congenital neutropenia
RS2147262829 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS2147262851 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, X-linked severe congenital neutropenia
RS2147262855 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2147262951 WAS Health Risk Likely pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2147263018 DCX Health Risk Likely pathogenic Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation
RS2147263186 DCX Health Risk Pathogenic Subcortical band heterotopia, Subcortical band heterotopia
RS2147263208 DCX Health Risk Pathogenic Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation
RS2147263289 DCX Health Risk Pathogenic —
RS2147263424 DCX Health Risk Pathogenic —
RS2147263638 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2147263661 WAS Health Risk Pathogenic —
RS2147263882 WAS Health Risk Likely pathogenic Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS2147263906 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2147264299 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2147264751 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS2147264768 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147264930 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2147264981 WAS Health Risk Pathogenic/Likely pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2147264989 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS2147265140 CELSR1 Health Risk Pathogenic Lymphatic malformation 9, Lymphatic malformation 9
RS2147265230 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2147265360 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS2147265693 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2147265717 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2147265791 ARHGEF9 Health Risk Likely pathogenic —
RS2147265861 WAS Health Risk Likely pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS2147265894 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, Thrombocytopenia
RS2147265917 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2147265977 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2147266023 ARHGEF9 Health Risk Pathogenic Developmental and epileptic encephalopathy, 8
RS2147266291 ARHGEF9 Health Risk Likely pathogenic —
RS2147266326 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS2147266379 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2147266405 WAS Health Risk Likely pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS2147266474 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
RS2147266578 USP9X Health Risk Pathogenic Intellectual disability, X-linked 99
RS2147266606 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147266672 LDLR Health Risk Likely pathogenic —
RS2147266860 MID1 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS2147266901 WAS Health Risk Likely pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS2147266958 WAS Health Risk Likely pathogenic Abnormality of blood and blood-forming tissues, Abnormality of blood and blood-forming tissues
RS2147267240 WAS Health Risk Pathogenic/Likely pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2147267350 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2147268605 WAS Health Risk Likely pathogenic —
RS2147268813 CNKSR2 Health Risk Pathogenic Intellectual disability, X-linked
RS2147272729 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147272924 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147272953 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147272964 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147273055 UBA1 Health Risk Likely pathogenic —
RS2147273159 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147273254 LAMP2 Health Risk Conflicting classifications of pathogenicity Nonpapillary renal cell carcinoma, Danon disease
RS2147276043 DCX Health Risk Likely pathogenic —
RS2147276286 DCX Health Risk Conflicting classifications of pathogenicity —
RS2147276330 DCX Health Risk Pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2147276732 DCX Health Risk Pathogenic —
RS2147276819 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2147278850 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2147278858 LAMP2 Health Risk Pathogenic/Likely pathogenic Danon disease, Danon disease
RS2147278864 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2147278957 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2147279469 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Danon disease
RS2147280018 CIC Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 45
RS2147281356 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2147281364 LAMP2 Health Risk Likely pathogenic Danon disease, Danon disease
RS2147281483 LAMP2 Health Risk Likely pathogenic Danon disease, Danon disease
RS2147282355 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2147282415 LAMP2 Health Risk Pathogenic Isolated Noncompaction of the Ventricular Myocardium, Isolated Noncompaction of the Ventricular Myocardium
RS2147282434 LAMP2 Health Risk Pathogenic Danon disease, Thyroid cancer
RS2147283096 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
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