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
RS2537824316 TG Health Risk Pathogenic —
RS2537825200 TG Health Risk Pathogenic —
RS2537826958 DPYS Health Risk Pathogenic Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
RS2537829946 NFIB Health Risk Pathogenic Macrocephaly, acquired
RS2537830164 NFIB Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2537830634 ACTL7A Health Risk Pathogenic Spermatogenic failure 86, Spermatogenic failure 86
RS2537831762 ACTL7A Health Risk Pathogenic Spermatogenic failure 86, Spermatogenic failure 86
RS2537833230 VPS13A Health Risk Pathogenic —
RS2537840830 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2537840925 VPS13A Health Risk Likely pathogenic —
RS2537841227 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS2537842719 VPS13A Health Risk Pathogenic —
RS2537843130 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2537847940 VPS13A Health Risk Pathogenic —
RS2537848135 VPS13A Health Risk Likely pathogenic —
RS2537848857 VPS13A Health Risk Pathogenic —
RS2537850034 ELP1 Health Risk Likely pathogenic —
RS2537854807 ELP1 Health Risk Pathogenic —
RS2537855098 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537855172 ELP1 Health Risk Likely pathogenic Medulloblastoma, Medulloblastoma
RS2537856143 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537856355 ELP1 Health Risk Pathogenic —
RS2537856378 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537856396 ELP1 Health Risk Pathogenic —
RS2537856439 ELP1 Health Risk Pathogenic —
RS2537857738 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537857777 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537857791 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537859430 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537862322 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537863407 ELP1 Health Risk Pathogenic —
RS2537867758 KIF1A Health Risk Likely pathogenic Neuropathy, hereditary sensory
RS2537869606 PLEC Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS2537875027 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537875036 ELP1 Health Risk Pathogenic —
RS2537875102 ELP1 Health Risk Pathogenic —
RS2537875648 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS2537878444 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537878571 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537880437 DPYS Health Risk Pathogenic —
RS2537882308 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537882376 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537882438 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537882462 ELP1 Health Risk Pathogenic —
RS2537882528 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537883228 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2537883283 ARID1B Health Risk Likely pathogenic —
RS2537884101 ELP1 Health Risk Likely pathogenic —
RS2537884383 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537884437 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Medulloblastoma
RS2537884472 ELP1 Health Risk Pathogenic —
RS2537884766 VPS13A Health Risk Likely pathogenic —
RS2537885517 VPS13A Health Risk Pathogenic —
RS2537885821 VPS13A Health Risk Pathogenic —
RS2537886940 NFIB Health Risk Likely pathogenic Macrocephaly, acquired
RS2537889010 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537889057 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537889121 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537889159 ELP1 Health Risk Pathogenic —
RS2537889240 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537889340 ELP1 Health Risk Likely pathogenic —
RS2537890305 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537890334 ELP1 Health Risk Pathogenic —
RS2537890382 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537890534 ELP1 Health Risk Pathogenic —
RS2537890934 ELP1 Health Risk Likely pathogenic —
RS2537891053 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537891068 ELP1 Health Risk Pathogenic —
RS2537891174 ELP1 Health Risk Pathogenic —
RS2537891534 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2537895836 VPS13A Health Risk Pathogenic —
RS2537896161 VPS13A Health Risk Pathogenic —
RS2537896293 VPS13A Health Risk Pathogenic —
RS2537896659 VPS13A Health Risk Pathogenic —
RS2537897004 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2537897041 VPS13A Health Risk Pathogenic —
RS2537897204 VPS13A Health Risk Pathogenic —
RS2537897539 VPS13A Health Risk Likely pathogenic —
RS2537898239 ELP1 Health Risk Pathogenic —
RS2537902302 ELP1 Health Risk Pathogenic —
RS2537902441 ELP1 Health Risk Pathogenic —
RS2537902464 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537902549 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537903051 ELP1 Health Risk Likely pathogenic —
RS2537903133 ELP1 Health Risk Pathogenic —
RS2537905523 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537905821 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537905917 ELP1 Health Risk Pathogenic/Likely pathogenic Familial dysautonomia, Medulloblastoma
RS2537907400 ELP1 Health Risk Pathogenic —
RS2537912381 ELP1 Health Risk Likely pathogenic —
RS2537912382 ELP1 Health Risk Likely pathogenic —
RS2537912475 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS2537912885 ELP1 Health Risk Pathogenic —
RS2537912945 ELP1 Health Risk Pathogenic —
RS2537912979 ELP1 Health Risk Pathogenic —
RS2537913306 ASAH1 Health Risk Likely pathogenic —
RS2537913430 ASAH1 Health Risk Pathogenic —
RS2537913471 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS2537915451 ASAH1 Health Risk Likely pathogenic —
RS2537916154 ASAH1 Health Risk Pathogenic —
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