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
RS1555965712 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555966699 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1555966753 RPGR Health Risk Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1555967031 NYX Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness 1A, NYX-related disorder
RS1555967227 MLC1 Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1555967260 STS Health Risk Likely pathogenic —
RS1555967263 NYX Health Risk Likely pathogenic Abnormality of the eye, Abnormality of the eye
RS1555967281 NYX Health Risk Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS1555967668 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1555967757 RPGR Health Risk Likely pathogenic Primary ciliary dyskinesia, Retinitis pigmentosa 3
RS1555968248 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Primary ciliary dyskinesia
RS1555968524 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555968785 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1555968874 CHM Health Risk Likely pathogenic Night blindness, Chorioretinal atrophy
RS1555968941 CACNA1C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, language delay
RS1555969382 AR Health Risk Pathogenic —
RS1555969512 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS1555969528 AR Health Risk Pathogenic Aplasia of the uterus, Female external genitalia in individual with 46
RS1555969545 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1555969553 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1555969670 AR Health Risk Pathogenic —
RS1555969682 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS1555969684 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1555969694 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS1555969807 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS1555970004 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1555970042 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1555970404 ZNF711 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 97
RS1555970997 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1555971000 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1555971001 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1555971887 CASK Health Risk Pathogenic —
RS1555972050 CHM Health Risk Pathogenic —
RS1555972067 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1555972071 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1555972137 EDA Health Risk Pathogenic —
RS1555972495 OTC Health Risk Conflicting classifications of pathogenicity —
RS1555972516 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS1555972538 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1555972599 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS1555972628 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS1555972632 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555972640 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555972641 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555972655 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555972666 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555972943 NR0B1 Health Risk Pathogenic/Likely pathogenic Congenital adrenal hypoplasia, X-linked
RS1555972957 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555972994 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555973010 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555973021 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555973031 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555973045 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555973058 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555973063 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555973091 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555973092 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555973115 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555973117 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555973119 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555973120 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555973131 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555973132 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555973147 NR0B1 Health Risk Pathogenic —
RS1555973172 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555973189 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1555973635 CLCN4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 49
RS1555973872 PCNT Health Risk Pathogenic —
RS1555974716 ZNF711 Health Risk Likely pathogenic Intellectual disability, X-linked 97
RS1555974965 PCNT Health Risk Likely pathogenic —
RS1555975458 CASK Health Risk Pathogenic Intellectual disability, CASK-related
RS1555975523 CASK Health Risk Likely pathogenic Global developmental delay, Congenital cerebellar hypoplasia
RS1555975685 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1555975756 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Abnormal circulating ornithine concentration
RS1555976049 NDP Health Risk Likely pathogenic Retinal detachment, Retinal detachment
RS1555976084 NDP Health Risk Pathogenic —
RS1555976134 TIMM8A Health Risk Conflicting classifications of pathogenicity Auditory neuropathy, Auditory neuropathy
RS1555976161 CLCN4 Health Risk Likely pathogenic —
RS1555976610 WDR4 Health Risk Pathogenic Galloway-Mowat syndrome 6, Galloway-Mowat syndrome 6
RS1555976766 BTK Health Risk Pathogenic Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1
RS1555976933 CLCN4 Health Risk Likely pathogenic —
RS1555976973 CLCN4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 49
RS1555977071 DYRK1A Health Risk Pathogenic —
RS1555977077 DYRK1A Health Risk Pathogenic —
RS1555977164 CLCN4 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555977171 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1555977174 CLCN4 Health Risk Likely pathogenic —
RS1555977195 CASK Health Risk Pathogenic Thyroid cancer, nonmedullary
RS1555977199 CASK Health Risk Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS1555977248 CASK Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555977269 CASK Health Risk Likely pathogenic CASK-related disorder, CASK-related disorder
RS1555977339 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
RS1555977341 BTK Health Risk Likely pathogenic —
RS1555977461 BTK Health Risk Pathogenic Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1
RS1555977474 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1555977496 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1555977580 BTK Health Risk Pathogenic Autosomal recessive agammaglobulinemia 1, Autosomal recessive agammaglobulinemia 1
RS1555977592 BTK Health Risk Pathogenic Autosomal recessive agammaglobulinemia 1, X-linked agammaglobulinemia with growth hormone deficiency
RS1555977598 BTK Health Risk Pathogenic Autosomal recessive agammaglobulinemia 1, X-linked agammaglobulinemia with growth hormone deficiency
RS1555977807 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
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