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
RS2509780649 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509782397 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509782416 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509782899 SLC12A6 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, axonal
RS2509783000 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509785660 FDXR Health Risk Pathogenic Auditory neuropathy-optic atrophy syndrome, Multiple mitochondrial dysfunctions syndrome 9b
RS2509787371 SNF8 Health Risk Pathogenic SNF8-associated disease, Neurodevelopmental disorder plus optic atrophy
RS2509788341 FDXR Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 9b, Multiple mitochondrial dysfunctions syndrome 9b
RS2509800523 SLC12A6 Health Risk Likely pathogenic —
RS2509802259 SLC12A6 Health Risk Likely pathogenic —
RS2509802539 SLC12A6 Health Risk Pathogenic —
RS2509802682 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509802792 SLC12A6 Health Risk Likely pathogenic —
RS2509803787 SLC12A6 Health Risk Likely pathogenic —
RS2509803879 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509804375 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509804742 SLC12A6 Health Risk Likely pathogenic —
RS2509808694 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509808876 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509809229 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509809254 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509810372 CANT1 Health Risk Pathogenic —
RS2509812481 CANT1 Health Risk Pathogenic —
RS2509812559 CANT1 Health Risk Pathogenic —
RS2509812786 CANT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, Epiphyseal dysplasia
RS2509813177 CANT1 Health Risk Pathogenic —
RS2509813194 CANT1 Health Risk Pathogenic —
RS2509813279 CANT1 Health Risk Pathogenic —
RS2509816766 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509816869 SLC12A6 Health Risk Pathogenic —
RS2509816917 SLC12A6 Health Risk Pathogenic —
RS2509816956 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509817001 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509817015 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509817358 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509817534 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509817742 SLC12A6 Health Risk Likely pathogenic —
RS2509820987 SLC12A6 Health Risk Pathogenic Charcot-Marie-Tooth disease, axonal
RS2509821769 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509821779 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509828295 RBFOX1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2509832183 SLC12A6 Health Risk Likely pathogenic —
RS2509832575 SLC12A6 Health Risk Pathogenic —
RS2509832801 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509832921 SLC12A6 Health Risk Pathogenic —
RS2509832966 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509832995 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509833034 SLC12A6 Health Risk Pathogenic —
RS2509837404 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509837476 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509838414 FOXJ1 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS2509838550 FOXJ1 Health Risk Likely pathogenic FOXJ1-related disorder, FOXJ1-related disorder
RS2509846598 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509846608 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509847354 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509847517 SLC12A6 Health Risk Likely pathogenic —
RS2509863445 CAVIN1 Health Risk Likely pathogenic Congenital generalized lipodystrophy type 4, Congenital generalized lipodystrophy type 4
RS2509875985 CAVIN1 Health Risk Likely pathogenic CAVIN1-related disorder, CAVIN1-related disorder
RS2509876602 CAVIN1 Health Risk Pathogenic Congenital generalized lipodystrophy type 4, Congenital generalized lipodystrophy type 4
RS2509876910 CAVIN1 Health Risk Pathogenic Congenital generalized lipodystrophy, Congenital generalized lipodystrophy
RS2509887847 KCNJ16 Health Risk Pathogenic KCNJ16-related disorder, Hypokalemic tubulopathy and deafness
RS2509893598 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509893610 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2509893730 SLC12A6 Health Risk Likely pathogenic —
RS2509907102 GCGR Health Risk Pathogenic GCGR-related hyperglucagonemia, GCGR-related hyperglucagonemia
RS2509920625 GAS2L2 Health Risk Pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2509920970 KCNJ2 Health Risk Pathogenic Andersen Tawil syndrome, Andersen Tawil syndrome
RS2509921093 KCNJ2 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2509921216 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Cardiovascular phenotype
RS2509932355 THOC1 Health Risk Pathogenic Hearing loss, autosomal dominant 86
RS2509944883 TBCD Health Risk Pathogenic —
RS2509949884 P4HB Health Risk Likely pathogenic —
RS2509957512 SLC4A1 Health Risk Pathogenic —
RS2509958411 SLC4A1 Health Risk Likely pathogenic —
RS2509958522 SLC4A1 Health Risk Likely pathogenic Cryohydrocytosis, Cryohydrocytosis
RS2509958533 SLC4A1 Health Risk Pathogenic —
RS2509958666 SLC4A1 Health Risk Likely pathogenic —
RS2509958707 SLC4A1 Health Risk Likely pathogenic Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS2509958851 SLC4A1 Health Risk Pathogenic —
RS2509958853 SLC4A1 Health Risk Likely pathogenic —
RS2509958887 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS2509960774 SLC4A1 Health Risk Likely pathogenic —
RS2509960878 SLC4A1 Health Risk Pathogenic/Likely pathogenic —
RS2509960984 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS2509960998 SLC4A1 Health Risk Likely pathogenic Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS2509961092 SLC4A1 Health Risk Pathogenic/Likely pathogenic —
RS2509962459 SLC4A1 Health Risk Likely pathogenic —
RS2509962537 SLC4A1 Health Risk Conflicting classifications of pathogenicity —
RS2509962539 SLC4A1 Health Risk Likely pathogenic —
RS2509962547 SLC4A1 Health Risk Likely pathogenic —
RS2509962553 SLC4A1 Health Risk Pathogenic —
RS2509962608 SLC4A1 Health Risk Pathogenic —
RS2509962645 SLC4A1 Health Risk Pathogenic —
RS2509962733 SLC4A1 Health Risk Likely pathogenic —
RS2509962737 SLC4A1 Health Risk Pathogenic —
RS2509962789 SLC4A1 Health Risk Likely pathogenic —
RS2509963578 SLC4A1 Health Risk Pathogenic/Likely pathogenic —
RS2509964040 SLC4A1 Health Risk Likely pathogenic —
RS2509964054 SLC4A1 Health Risk Pathogenic —
RS2509964063 SLC4A1 Health Risk Pathogenic —
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