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
RS2147341364 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2147341370 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2147341500 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2147342649 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2147342791 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2147343863 DDX3X Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 102
RS2147343930 DDX3X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2147345110 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2147345212 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2147345229 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2147345630 ZC4H2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2147345669 ZC4H2 Health Risk Likely pathogenic —
RS2147345743 ZC4H2 Health Risk Pathogenic Wieacker-Wolff syndrome, female-restricted
RS2147346551 CNKSR2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS2147346607 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2147347136 ZC4H2 Health Risk Likely pathogenic —
RS2147348607 DDX3X Health Risk Pathogenic —
RS2147348697 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2147348755 DDX3X Health Risk Likely pathogenic See cases, See cases
RS2147349066 ARSL Health Risk Pathogenic/Likely pathogenic X-linked chondrodysplasia punctata 1, Nonpapillary renal cell carcinoma
RS2147349266 OPHN1 Health Risk Pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS2147349618 ZC4H2 Health Risk Likely pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS2147349682 ZC4H2 Health Risk Likely pathogenic Wieacker-Wolff syndrome, Wieacker-Wolff syndrome
RS2147349974 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2147350808 SLC16A2 Health Risk Likely pathogenic —
RS2147350816 DDX3X Health Risk Pathogenic Rare genetic intellectual disability, Intellectual disability
RS2147350817 SLC16A2 Health Risk Likely pathogenic —
RS2147350836 SLC16A2 Health Risk Likely pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS2147350843 DDX3X Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2147351107 DRP2 Health Risk Likely pathogenic —
RS2147351698 DDX3X Health Risk Likely pathogenic Nonpapillary renal cell carcinoma, Thyroid cancer
RS2147351713 DDX3X Health Risk Pathogenic —
RS2147351722 DDX3X Health Risk Likely pathogenic —
RS2147351801 DDX3X Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2147351858 DDX3X Health Risk Pathogenic —
RS2147352443 DRP2 Health Risk Pathogenic —
RS2147352999 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2147353543 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2147353985 DDX3X Health Risk Likely pathogenic —
RS2147353994 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2147354193 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2147354489 DRP2 Health Risk Pathogenic —
RS2147356188 DDX3X Health Risk Likely pathogenic —
RS2147356235 DDX3X Health Risk Likely pathogenic —
RS2147356322 DDX3X Health Risk Likely pathogenic —
RS2147356545 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2147356620 DDX3X Health Risk Likely pathogenic —
RS2147356661 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2147356679 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2147356685 DDX3X Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS2147356713 DDX3X Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 102
RS2147356723 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2147356745 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2147356805 DDX3X Health Risk Pathogenic —
RS2147358439 DDX3X Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2147358546 DDX3X Health Risk Likely pathogenic —
RS2147358635 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2147358745 DDX3X Health Risk Likely pathogenic DDX3X-related X-linked intellectual disability, DDX3X-related X-linked intellectual disability
RS2147359333 DDX3X Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, Thyroid cancer
RS2147359855 DDX3X Health Risk Likely pathogenic —
RS2147359928 DDX3X Health Risk Pathogenic —
RS2147359985 DDX3X Health Risk Pathogenic —
RS2147360033 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2147360104 DDX3X Health Risk Pathogenic —
RS2147360775 STEEP1 Health Risk Likely pathogenic Intellectual disability, X-linked 107
RS2147362866 DYM Health Risk Pathogenic Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
RS2147368049 CASK Health Risk Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2147369813 MID1 Health Risk Pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS2147370935 OPHN1 Health Risk Pathogenic —
RS2147372077 RLIM Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 61
RS2147372360 RLIM Health Risk Likely pathogenic Intellectual disability, X-linked 61
RS2147373019 UBE2A Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2147378714 ARSL Health Risk Likely pathogenic —
RS2147382084 UBE2A Health Risk Likely pathogenic Syndromic X-linked intellectual disability Nascimento type, Syndromic X-linked intellectual disability Nascimento type
RS2147383715 GRIA3 Health Risk Pathogenic/Likely pathogenic Syndromic X-linked intellectual disability 94, Inborn genetic diseases
RS2147384854 GRIA3 Health Risk Likely pathogenic —
RS2147384890 GRIA3 Health Risk Pathogenic Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94
RS2147387003 SMPX Health Risk Pathogenic Myopathy, distal
RS2147387122 SMPX Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS2147390444 SMPX Health Risk Likely pathogenic Hearing loss, X-linked 4
RS2147390451 SMPX Health Risk Pathogenic —
RS2147390527 SMPX Health Risk Pathogenic Myopathy, distal
RS2147391497 ACSL4 Health Risk Likely pathogenic Intellectual disability, X-linked 63
RS2147393485 GRIA3 Health Risk Likely pathogenic —
RS2147394157 ARSL Health Risk Likely pathogenic X-linked chondrodysplasia punctata 1, Chondrodysplasia punctata
RS2147396459 SMPX Health Risk Pathogenic Myopathy, distal
RS2147401079 GRIA3 Health Risk Pathogenic GRIA3-related complex neurodevelopmental disorder, GRIA3-related complex neurodevelopmental disorder
RS2147401116 GRIA3 Health Risk Pathogenic Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94
RS2147401174 ARSL Health Risk Likely pathogenic Chondrodysplasia punctata, brachytelephalangic
RS2147401694 ARSL Health Risk Pathogenic Chondrodysplasia punctata, brachytelephalangic
RS2147404496 OPHN1 Health Risk Likely pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS2147404569 LRCH2 Health Risk Pathogenic Demyelinating peripheral neuropathy, Cerebellar ataxia
RS2147404831 FANCB Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2147416060 TIMM8A Health Risk Likely pathogenic Deafness dystonia syndrome, Deafness dystonia syndrome
RS2147416123 TIMM8A Health Risk Pathogenic Deafness dystonia syndrome, Deafness dystonia syndrome
RS2147417847 TANC2 Health Risk Pathogenic —
RS2147418146 TIMM8A Health Risk Pathogenic Deafness dystonia syndrome, Deafness dystonia syndrome
RS2147419086 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147419276 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2147419940 BTK Health Risk Likely pathogenic —
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