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
RS1569257917 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1569258293 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS1569258901 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS1569261319 CNKSR2 Health Risk Pathogenic Intellectual disability, X-linked
RS1569263557 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1569263642 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1569263730 PLA2G6 Health Risk Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation
RS1569264087 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS1569264288 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1569265331 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1569265470 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1569265497 MID1 Health Risk Pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1569268013 MID1 Health Risk Pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1569268029 MID1 Health Risk Pathogenic X-linked Opitz G/BBB syndrome, Inborn genetic diseases
RS1569268048 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1569268070 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1569268878 NR0B1 Health Risk Pathogenic —
RS1569268919 NR0B1 Health Risk Likely pathogenic —
RS1569268976 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1569269179 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1569269195 NR0B1 Health Risk Pathogenic —
RS1569270016 MID1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1569270035 MID1 Health Risk Pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1569270890 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1569271378 POLA1 Health Risk Pathogenic X-linked intellectual disability, van Esch type
RS1569271892 POLA1 Health Risk Pathogenic X-linked intellectual disability, van Esch type
RS1569272194 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1569272203 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1569272271 CNKSR2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1569272328 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Tooth agenesis
RS1569272528 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1569273900 KDM5C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1569273905 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569274606 KDM5C Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1569277866 POLA1 Health Risk Pathogenic X-linked intellectual disability, van Esch type
RS1569277899 POLA1 Health Risk Pathogenic X-linked intellectual disability, van Esch type
RS1569278313 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Spastic paraplegia
RS1569279367 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS1569280138 POU3F4 Health Risk Pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS1569280197 POU3F4 Health Risk Likely pathogenic —
RS1569280235 POU3F4 Health Risk Pathogenic Autosomal recessive sensorineural hearing loss, Autosomal recessive sensorineural hearing loss
RS1569280385 POU3F4 Health Risk Pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS1569280986 SLC16A2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1569281032 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1569281085 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Spastic paraplegia
RS1569281190 SLC16A2 Health Risk Pathogenic —
RS1569281354 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1569282905 OTC Health Risk Pathogenic/Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS1569283243 CASK Health Risk Likely pathogenic FG syndrome 4, Syndromic X-linked intellectual disability Najm type
RS1569285361 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS1569285562 KDM5C Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1569288603 CASK Health Risk Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS1569290395 BRWD3 Health Risk Likely pathogenic Intellectual disability, X-linked 93
RS1569290954 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1569291215 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS1569291244 BTK Health Risk Conflicting classifications of pathogenicity X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
RS1569291261 CASK Health Risk Likely pathogenic Syndromic X-linked intellectual disability Najm type, Congenital cerebellar hypoplasia
RS1569291627 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1569291644 BTK Health Risk Pathogenic/Likely pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
RS1569291654 IQSEC2 Health Risk Pathogenic —
RS1569291699 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS1569292021 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS1569292214 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS1569292649 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS1569292774 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS1569292810 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS1569292813 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS1569292818 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS1569293252 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS1569293253 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS1569293373 NF2 Health Risk Pathogenic Neoplasm, Neoplasm
RS1569293488 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1569294187 NF2 Health Risk Pathogenic Spindle cell sarcoma, Spindle cell sarcoma
RS1569295677 CASK Health Risk Pathogenic/Likely pathogenic Syndromic X-linked intellectual disability Najm type, Congenital cerebellar hypoplasia
RS1569295678 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS1569295916 NF2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1569296295 BTK Health Risk Pathogenic/Likely pathogenic X-linked agammaglobulinemia, Inherited Immunodeficiency Diseases
RS1569297379 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1569297427 PHKA2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1569298646 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1569300277 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1569300538 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, PHKA2-related disorder
RS1569300687 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1569301036 TAF1 Health Risk Pathogenic Intellectual disability, X-linked
RS1569302194 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS1569302393 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1569302692 GLA Health Risk Pathogenic —
RS1569302697 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1569302816 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS1569302887 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1569302982 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1569302985 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS1569303030 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1569303189 GLA Health Risk Pathogenic —
RS1569303213 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1569303218 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1569303295 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1569303815 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1569303843 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1569304190 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Cardiovascular phenotype
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