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
RS2147448071 COL4A5 Health Risk Pathogenic —
RS2147448137 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147448164 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS2147448284 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS2147448673 FGD1 Health Risk Pathogenic —
RS2147448693 MEGF8 Health Risk Pathogenic MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS2147452502 TSPAN7 Health Risk Pathogenic Intellectual disability, X-linked 58
RS2147452753 GRIN2D Health Risk Pathogenic Developmental and epileptic encephalopathy, 46
RS2147453642 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2147455888 GRIN2D Health Risk Pathogenic Developmental and epileptic encephalopathy, 46
RS2147455922 GRIN2D Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 46
RS2147456007 MBTPS2 Health Risk Pathogenic/Likely pathogenic —
RS2147456067 OPHN1 Health Risk Likely pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS2147457199 OPHN1 Health Risk Pathogenic —
RS2147457839 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2147462360 OPHN1 Health Risk Pathogenic Seizure, Seizure
RS2147463824 NDUFAF5 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS2147463929 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2147465256 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2147468376 PQBP1 Health Risk Pathogenic Renpenning syndrome, Renpenning syndrome
RS2147468543 MID1 Health Risk Pathogenic —
RS2147470500 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147470514 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS2147470742 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2147470791 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS2147471075 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS2147471207 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2147471723 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147471760 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2147471863 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS2147471872 PQBP1 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS2147471929 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS2147471979 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2147472050 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS2147472132 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS2147472136 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS2147472174 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2147472395 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2147472456 PQBP1 Health Risk Pathogenic/Likely pathogenic Renpenning syndrome, Renpenning syndrome
RS2147472458 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS2147472674 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147472734 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147472907 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147472959 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS2147473129 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2147473202 DMD Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS2147473301 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS2147473404 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS2147473470 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2147473623 HNF1B Health Risk Pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2147473703 HNF1B Health Risk Pathogenic/Likely pathogenic Type 2 diabetes mellitus, Renal cysts and diabetes syndrome
RS2147473858 HNF1B Health Risk Likely pathogenic —
RS2147474151 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS2147474434 PQBP1 Health Risk Pathogenic —
RS2147475435 GRIN2D Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 46
RS2147475642 PQBP1 Health Risk Pathogenic Renpenning syndrome, Renpenning syndrome
RS2147475773 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Nonpapillary renal cell carcinoma
RS2147475916 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2147476101 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS2147476203 GLA Health Risk Likely pathogenic —
RS2147476253 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS2147476255 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS2147477318 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Cardiovascular phenotype
RS2147477422 GLA Health Risk Pathogenic Nephrotic syndrome, Fabry disease
RS2147477583 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2147477618 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS2147477659 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2147477791 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2147477845 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2147480438 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2147480442 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2147480502 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2147480697 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS2147480882 GLA Health Risk Conflicting classifications of pathogenicity —
RS2147480960 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS2147481894 OPHN1 Health Risk Likely pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS2147481899 OPHN1 Health Risk Pathogenic —
RS2147484573 OPHN1 Health Risk Pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS2147485040 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2147485081 PCDH19 Health Risk Pathogenic/Likely pathogenic PCDH19-related epilepsy, Developmental and epileptic encephalopathy
RS2147486180 SLC35A2 Health Risk Likely pathogenic non-lesional focal epilepsy, non-lesional focal epilepsy
RS2147486594 SLC35A2 Health Risk Likely pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2147486684 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2147486766 SLC35A2 Health Risk Likely pathogenic non-lesional focal epilepsy, non-lesional focal epilepsy
RS2147487028 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2147487148 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS2147487234 SLC35A2 Health Risk Conflicting classifications of pathogenicity SLC35A2-congenital disorder of glycosylation, SLC35A2-related disorder
RS2147487247 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2147487313 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2147487375 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2147487622 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2147487659 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2147487830 GLA Health Risk Pathogenic Fabry disease, Cardiovascular phenotype
RS2147487910 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Cardiovascular phenotype
RS2147487930 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2147489491 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2147489558 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2147489679 SLC35A2 Health Risk Likely pathogenic non-lesional focal epilepsy, non-lesional focal epilepsy
RS2147489736 SLC35A2 Health Risk Pathogenic SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS2147492627 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
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