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
RS2126961983 POU4F3 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
RS2126962006 KDM3B Health Risk Likely pathogenic Diets-Jongmans syndrome, Diets-Jongmans syndrome
RS2126962041 POU4F3 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
RS2126967422 MEGF10 Health Risk Likely pathogenic —
RS2126973413 MEGF10 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS2126978741 FBN2 Health Risk Likely pathogenic —
RS2126988253 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2126994153 KDM3B Health Risk Conflicting classifications of pathogenicity Developmental disorder, Developmental disorder
RS2126996545 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2126996872 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2126998820 KDM3B Health Risk Pathogenic Rare genetic intellectual disability, Rare genetic epilepsy
RS2126999837 MEGF10 Health Risk Likely pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS2127000716 GRIA2 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2127000861 GRIA2 Health Risk Likely pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS2127000875 GRIA2 Health Risk Pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS2127002964 KDM3B Health Risk Pathogenic —
RS2127002980 KDM3B Health Risk Likely pathogenic Diets-Jongmans syndrome, See cases
RS2127004544 GRIA2 Health Risk Likely pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Inborn genetic diseases
RS2127004559 GRIA2 Health Risk Likely pathogenic Neurodevelopmental disorder with language impairment and behavioral abnormalities, Neurodevelopmental disorder with language impairment and behavioral abnormalities
RS2127004616 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2127007326 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2127009232 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2127013208 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2127014143 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2127014587 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2127015093 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2127015228 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2127026486 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS2127026526 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2127026775 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2127027745 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2127032752 MEGF10 Health Risk Likely pathogenic —
RS2127034914 CEP120 Health Risk Pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
RS2127045645 MEGF10 Health Risk Pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS2127055990 CEP120 Health Risk Pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
RS2127056186 CEP120 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
RS2127059805 CEP120 Health Risk Pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
RS2127068062 CEP120 Health Risk Likely pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
RS2127071022 CEP120 Health Risk Pathogenic Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
RS2127152868 HSPA9 Health Risk Likely pathogenic —
RS2127154743 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2127154885 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2127154945 LRBA Health Risk Likely pathogenic —
RS2127240813 GM2A Health Risk Pathogenic Tay-Sachs disease, variant AB
RS2127241876 NSD1 Health Risk Likely pathogenic —
RS2127241978 NSD1 Health Risk Pathogenic —
RS2127254498 TNXB Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, Cardiovascular phenotype
RS2127255428 DCDC2 Health Risk Pathogenic Chylomicron retention disease, Chylomicron retention disease
RS2127256836 NSD1 Health Risk Likely pathogenic See cases, See cases
RS2127256855 NSD1 Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS2127257129 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2127257170 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2127257218 NSD1 Health Risk Pathogenic —
RS2127257326 NSD1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2127257484 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2127257571 NSD1 Health Risk Pathogenic —
RS2127257578 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2127262979 NSD1 Health Risk Likely pathogenic —
RS2127263139 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Inborn genetic diseases
RS2127263172 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2127263182 NSD1 Health Risk Pathogenic —
RS2127266443 EYS Health Risk Pathogenic —
RS2127270768 EYS Health Risk Pathogenic —
RS2127270969 EYS Health Risk Pathogenic —
RS2127271080 EYS Health Risk Pathogenic —
RS2127271125 EYS Health Risk Pathogenic —
RS2127271139 EYS Health Risk Pathogenic —
RS2127271155 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2127271339 EYS Health Risk Pathogenic —
RS2127271728 EYS Health Risk Pathogenic —
RS2127271977 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2127276046 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, Sotos syndrome
RS2127276076 NSD1 Health Risk Pathogenic —
RS2127276417 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2127276655 NSD1 Health Risk Pathogenic —
RS2127277880 JARID2 Health Risk Likely pathogenic Autosomal dominant non-syndromic intellectual disability, Autosomal dominant non-syndromic intellectual disability
RS2127279165 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2127279186 NSD1 Health Risk Pathogenic —
RS2127279302 NSD1 Health Risk Likely pathogenic —
RS2127279367 NSD1 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 2, Holoprosencephaly 2
RS2127279532 NSD1 Health Risk Pathogenic/Likely pathogenic —
RS2127279646 NSD1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2127279650 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS2127282070 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2127282737 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2127283690 NSD1 Health Risk Pathogenic —
RS2127283800 NSD1 Health Risk Likely pathogenic See cases, See cases
RS2127285210 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2127298549 SLC26A8 Health Risk Pathogenic Spermatogenic failure 3, Spermatogenic failure 3
RS2127346823 PNPLA1 Health Risk Likely pathogenic Abnormality of the skin, Abnormality of the skin
RS2127349265 FOXP4 Health Risk Likely pathogenic —
RS2127349270 RHAG Health Risk Likely pathogenic —
RS2127355139 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS2127363263 TAP2 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS2127367115 TAP2 Health Risk Likely pathogenic MHC class I deficiency, MHC class I deficiency
RS2127367497 TAP2 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency 2
RS2127377117 PSMB8 Health Risk Pathogenic/Likely pathogenic Autoinflammatory syndrome, Proteosome-associated autoinflammatory syndrome
RS2127379151 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS2127382173 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS2127382426 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
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