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
RS2520757556 CACNA1F Health Risk Pathogenic —
RS2520757940 CACNA1F Health Risk Pathogenic —
RS2520758253 CACNA1F Health Risk Pathogenic —
RS2520758970 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520763530 F9 Health Risk Likely pathogenic Thrombophilia, X-linked
RS2520775696 CACNA1F Health Risk Likely pathogenic —
RS2520780587 HPRT1 Health Risk Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
RS2520780876 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, Lesch-Nyhan syndrome
RS2520782845 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520785056 HPRT1 Health Risk Likely pathogenic Nephrolithiasis/nephrocalcinosis, Nephrolithiasis/nephrocalcinosis
RS2520785058 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520785174 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, Lesch-Nyhan syndrome
RS2520785330 HPRT1 Health Risk Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
RS2520785369 HPRT1 Health Risk Pathogenic —
RS2520785446 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520785587 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520785646 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520785671 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520785689 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
RS2520789817 CACNA1F Health Risk Likely pathogenic Aland island eye disease, Aland island eye disease
RS2520790051 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS2520790212 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS2520790255 F9 Health Risk Pathogenic Thrombophilia, X-linked
RS2520791805 CACNA1F Health Risk Likely pathogenic —
RS2520802842 F9 Health Risk Pathogenic Thrombophilia, X-linked
RS2520803292 F9 Health Risk Likely pathogenic F9-related disorder, F9-related disorder
RS2520811436 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520813482 HPRT1 Health Risk Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
RS2520813885 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520813902 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520815325 CACNA1F Health Risk Pathogenic —
RS2520821498 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, Lesch-Nyhan syndrome
RS2520822018 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520823426 CACNA1F Health Risk Likely pathogenic —
RS2520823699 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520823863 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520828047 SMC1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 85
RS2520828084 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS2520828155 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520828613 SMC1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 85
RS2520830173 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
RS2520839064 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS2520839479 CACNA1F Health Risk Likely pathogenic —
RS2520839861 HPRT1 Health Risk Pathogenic —
RS2520840416 HPRT1 Health Risk Pathogenic —
RS2520840422 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, HPRT MICHIGAN
RS2520840504 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, Lesch-Nyhan syndrome
RS2520841758 FRMD7 Health Risk Pathogenic —
RS2520842805 F9 Health Risk Pathogenic/Likely pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS2520844151 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS2520844451 HPRT1 Health Risk Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
RS2520844630 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS2520845534 F9 Health Risk Likely pathogenic Thrombophilia, X-linked
RS2520845596 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS2520845620 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS2520845719 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS2520846572 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS2520846740 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS2520846993 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS2520848016 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS2520848336 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS2520849107 GLA Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2520849314 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS2520850014 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520850153 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2520850221 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS2520850302 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS2520851123 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS2520851150 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520851203 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2520851440 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520851660 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520852085 CACNA1F Health Risk Likely pathogenic Aland island eye disease, Aland island eye disease
RS2520852344 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520852439 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2520852645 GLA Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2520859612 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2520860264 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2520861972 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS2520862052 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520862144 IDS Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2520862276 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2520862342 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520862364 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520862570 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520862741 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520862765 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520863301 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520863360 IDS Health Risk Pathogenic Inborn genetic diseases, Mucopolysaccharidosis
RS2520863392 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520863476 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520863912 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS2520864023 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS2520864097 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2520864190 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS2520864428 LAMP2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2520864754 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520864961 GLA Health Risk Pathogenic GLA-related disorder, Fabry disease
RS2520865089 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS2520865466 CACNA1F Health Risk Likely pathogenic —
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