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
RS2519714036 MED12 Health Risk Pathogenic/Likely pathogenic Cholestasis-pigmentary retinopathy-cleft palate syndrome, Cholestasis-pigmentary retinopathy-cleft palate syndrome
RS2519714787 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2519716790 CFP Health Risk Likely pathogenic Properdin deficiency, X-linked
RS2519721034 MED12 Health Risk Likely pathogenic Cholestasis-pigmentary retinopathy-cleft palate syndrome, Cholestasis-pigmentary retinopathy-cleft palate syndrome
RS2519721261 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome 1, MED12-related disorder
RS2519721422 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2519722144 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2519722162 PHEX Health Risk Pathogenic —
RS2519722284 PHEX Health Risk Pathogenic —
RS2519722379 PHEX Health Risk Pathogenic —
RS2519722485 PHEX Health Risk Pathogenic —
RS2519722494 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2519722575 PHEX Health Risk Pathogenic —
RS2519722627 PHEX Health Risk Pathogenic —
RS2519722716 PHEX Health Risk Likely pathogenic —
RS2519725017 DLG3 Health Risk Pathogenic —
RS2519725056 DLG3 Health Risk Likely pathogenic Intellectual disability, X-linked 90
RS2519725228 DLG3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519725480 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Intellectual disability
RS2519725491 RPS6KA3 Health Risk Likely pathogenic Coffin-Lowry syndrome, Intellectual disability
RS2519728574 ARHGEF9 Health Risk Pathogenic Developmental and epileptic encephalopathy, 8
RS2519728710 ARHGEF9 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 8
RS2519728724 OTUD5 Health Risk Likely pathogenic OTUD5-related disorder, OTUD5-related disorder
RS2519728924 ARHGEF9 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 8
RS2519730848 DLG3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519732229 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Intellectual disability
RS2519732291 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS2519735876 NLGN3 Health Risk Pathogenic Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
RS2519735957 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS2519745279 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2519746029 NLGN3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519748934 NLGN3 Health Risk Pathogenic Autism, susceptibility to
RS2519750379 ARHGEF9 Health Risk Pathogenic Developmental and epileptic encephalopathy, 8
RS2519750588 ARHGEF9 Health Risk Pathogenic Developmental and epileptic encephalopathy, 8
RS2519751285 CASK Health Risk Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2519751549 CASK Health Risk Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2519751886 FRMPD4 Health Risk Likely pathogenic Intellectual disability, X-linked 104
RS2519752309 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, FG syndrome 4
RS2519752677 PHEX Health Risk Pathogenic —
RS2519752690 PHEX Health Risk Pathogenic —
RS2519752779 PHEX Health Risk Pathogenic —
RS2519752853 PHEX Health Risk Pathogenic —
RS2519754106 PHEX Health Risk Pathogenic —
RS2519754256 PHEX Health Risk Pathogenic —
RS2519754273 PHEX Health Risk Pathogenic See cases, See cases
RS2519754339 PHEX Health Risk Pathogenic —
RS2519754370 PHEX Health Risk Pathogenic —
RS2519754402 PHEX Health Risk Pathogenic —
RS2519754630 PHEX Health Risk Pathogenic —
RS2519756903 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2519757098 KIZ Health Risk Pathogenic —
RS2519757776 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519758093 RPGR Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519759046 SLC16A2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2519759057 SLC16A2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2519759087 SLC16A2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519759427 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS2519759580 SLC16A2 Health Risk Likely pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS2519759849 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS2519762863 RPS6KA3 Health Risk Likely pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS2519766355 PLXNB2 Health Risk Pathogenic See cases, See cases
RS2519767835 CASK Health Risk Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2519771482 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS2519771686 PHEX Health Risk Pathogenic —
RS2519771847 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2519771950 PHEX Health Risk Pathogenic —
RS2519772086 PHEX Health Risk Pathogenic —
RS2519772125 PHEX Health Risk Likely pathogenic —
RS2519772389 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2519772399 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2519772582 CASK Health Risk Likely pathogenic CASK-related disorder, CASK-related disorder
RS2519772661 CASK Health Risk Pathogenic Intellectual disability, CASK-related
RS2519773053 CASK Health Risk Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2519775597 PHEX Health Risk Likely pathogenic —
RS2519775633 PHEX Health Risk Pathogenic —
RS2519775660 PHEX Health Risk Pathogenic —
RS2519775833 PHEX Health Risk Pathogenic —
RS2519777723 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519778144 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2519779570 PHEX Health Risk Pathogenic —
RS2519779658 PHEX Health Risk Pathogenic PHEX-related disorder, PHEX-related disorder
RS2519779683 PHEX Health Risk Pathogenic —
RS2519779804 RPGR Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519779829 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519779850 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2519779899 PHEX Health Risk Pathogenic —
RS2519779932 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519780004 PHEX Health Risk Pathogenic —
RS2519780040 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519780068 PHEX Health Risk Pathogenic —
RS2519780113 PHEX Health Risk Pathogenic —
RS2519780140 PHEX Health Risk Pathogenic PHEX-related disorder, PHEX-related disorder
RS2519780183 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, RPGR-related retinopathy
RS2519780233 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519780275 RPGR Health Risk Pathogenic RPGR-related retinopathy, RPGR-related retinopathy
RS2519780437 RPGR Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 3, Macular degeneration
RS2519780481 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS2519780519 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519780546 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519780558 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
« Prev 1 ... 2302 2303 2304 2305 2306 2307 2308 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →