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
RS2147177872 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147178249 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2147178526 CLCN4 Health Risk Likely pathogenic Intellectual disability, X-linked 49
RS2147178955 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147178971 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147179000 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147179056 CEP250 Health Risk Pathogenic —
RS2147179060 CASK Health Risk Likely pathogenic Syndromic X-linked intellectual disability Najm type, Clear cell carcinoma of kidney
RS2147179071 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS2147179477 CLCN4 Health Risk Likely pathogenic —
RS2147179499 CLCN4 Health Risk Pathogenic Intellectual disability, X-linked 49
RS2147179530 CLCN4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 49
RS2147179733 PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2147180742 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2147180839 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2147180851 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2147180901 TUBGCP6 Health Risk Pathogenic —
RS2147180935 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2147181283 TUBGCP6 Health Risk Pathogenic —
RS2147182067 TUBGCP6 Health Risk Pathogenic —
RS2147182584 CLCN4 Health Risk Likely pathogenic —
RS2147182686 CLCN4 Health Risk Pathogenic —
RS2147182742 CLCN4 Health Risk Conflicting classifications of pathogenicity —
RS2147183119 PHEX Health Risk Pathogenic Hypophosphatemic rickets, Hypophosphatemic rickets
RS2147183126 PHEX Health Risk Pathogenic —
RS2147183142 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147183168 PHEX Health Risk Pathogenic —
RS2147183196 PHEX Health Risk Pathogenic —
RS2147183222 PHEX Health Risk Pathogenic —
RS2147183746 CLCN4 Health Risk Pathogenic —
RS2147184502 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2147184517 PDHA1 Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS2147184540 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2147184567 PHEX Health Risk Pathogenic —
RS2147184570 PHEX Health Risk Pathogenic/Likely pathogenic Hypophosphatemic rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147184607 PHEX Health Risk Pathogenic —
RS2147184613 PHEX Health Risk Pathogenic —
RS2147184665 PHEX Health Risk Pathogenic —
RS2147184688 TUBGCP6 Health Risk Pathogenic/Likely pathogenic Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS2147184719 PHEX Health Risk Pathogenic —
RS2147184743 PHEX Health Risk Pathogenic —
RS2147184785 PHEX Health Risk Pathogenic —
RS2147184796 PHEX Health Risk Likely pathogenic Hypophosphatemic rickets, Hypophosphatemic rickets
RS2147184823 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147184841 PHEX Health Risk Likely pathogenic —
RS2147184852 PHEX Health Risk Pathogenic —
RS2147185153 TUBGCP6 Health Risk Pathogenic —
RS2147185256 CIC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 45
RS2147185286 TLK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS2147185386 TUBGCP6 Health Risk Pathogenic —
RS2147185629 TLK2 Health Risk Likely pathogenic —
RS2147186383 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS2147186763 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2147187186 PDHA1 Health Risk Pathogenic —
RS2147187199 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2147187633 TUBGCP6 Health Risk Pathogenic —
RS2147187702 TUBGCP6 Health Risk Pathogenic —
RS2147187749 CLCN4 Health Risk Pathogenic —
RS2147188856 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS2147188877 RS1 Health Risk Pathogenic —
RS2147188897 RS1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2147188931 RS1 Health Risk Likely pathogenic —
RS2147188942 RS1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2147188973 PDHA1 Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2147188989 USP9X Health Risk Pathogenic —
RS2147189016 RS1 Health Risk Pathogenic —
RS2147189048 RS1 Health Risk Pathogenic —
RS2147189125 RS1 Health Risk Pathogenic/Likely pathogenic Juvenile retinoschisis, Thyroid cancer
RS2147189158 PDHA1 Health Risk Likely pathogenic —
RS2147189180 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2147189315 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2147189334 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2147189414 PDHA1 Health Risk Pathogenic —
RS2147190470 RPGR Health Risk Pathogenic RPGR-related retinopathy, RPGR-related retinopathy
RS2147190484 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2147190626 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2147190794 RPGR Health Risk Pathogenic —
RS2147191083 RS1 Health Risk Pathogenic —
RS2147191113 RS1 Health Risk Pathogenic —
RS2147191116 RS1 Health Risk Likely pathogenic —
RS2147191142 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS2147191149 RS1 Health Risk Pathogenic —
RS2147191190 RS1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2147191194 RS1 Health Risk Pathogenic —
RS2147191205 RS1 Health Risk Pathogenic/Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS2147191221 RS1 Health Risk Pathogenic —
RS2147191275 CNKSR2 Health Risk Likely pathogenic Intellectual disability, X-linked
RS2147191292 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS2147191359 CDKL5;RS1 Health Risk Pathogenic —
RS2147191361 RS1 Health Risk Pathogenic —
RS2147191395 RS1 Health Risk Likely pathogenic —
RS2147191414 RS1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2147191432 RS1 Health Risk Pathogenic —
RS2147191670 TUBGCP6 Health Risk Pathogenic —
RS2147193284 TCF20 Health Risk Likely pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2147193425 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2147193598 TCF20 Health Risk Pathogenic/Likely pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2147193652 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2147193654 RPGR Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Retinitis pigmentosa 3
RS2147193692 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
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