Found 7392 SAVs (36.7 %)from pleiotropic protein and 12743 SAVs (63.3 %) from non-pleiotropic protein.
15222 disease SAVs (75.6 %) and 4913 non-disease (24.4 %).
20135 items found (page 109 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q92838 | pleiotropic | VAR_054470 | p.Tyr343Cys | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_005180 | p.Glu63Lys | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_064860 | p.Gly207Val | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_064863 | p.Trp274Arg | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_029534 | p.Arg65Gly | Disease | - | - | Tooth agenesis selective X-linked 1 (STHAGX1) [MIM:313500] |
Q92838 | pleiotropic | VAR_054472 | p.Ile360Asn | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_054455 | p.Arg156Ser | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_013485 | p.His252Tyr | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_005186 | p.Gly224Ala | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_005181 | p.Arg69Leu | Disease | rs132630309 | 0.0013 | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_005188 | p.Gly299Ser | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_054471 | p.Gln358Glu | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_005189 | p.Ala349Thr | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_064869 | p.Cys346Tyr | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
P14138 | pleiotropic | VAR_009079 | p.Ala224Thr | Disease | rs11570351 | 0.0014 | Hirschsprung disease 4 (HSCR4) [MIM:613712] |
P14138 | pleiotropic | VAR_009078 | p.Ala17Thr | Disease | rs11570255 | 0.004 | Hirschsprung disease 4 (HSCR4) [MIM:613712] |
P14138 | pleiotropic | VAR_015238 | p.Tyr127Cys | Disease | - | - | Waardenburg syndrome 4B (WS4B) [MIM:613265] |
P14138 | pleiotropic | VAR_002353 | p.Cys159Phe | Disease | - | - | Waardenburg syndrome 4B (WS4B) [MIM:613265] |
P24530 | pleiotropic | VAR_014676 | p.Leu17Phe | Non-Disease | rs5346 | 0.0055 | - |
P24530 | pleiotropic | VAR_003474 | p.Met374Ile | Disease | - | - | Hirschsprung disease 2 (HSCR2) [MIM:600155] |
P24530 | pleiotropic | VAR_003471 | p.Trp276Cys | Disease | - | - | Hirschsprung disease 2 (HSCR2) [MIM:600155] |
P24530 | pleiotropic | VAR_003472 | p.Ser305Asn | Disease | rs5352 | 0.005 | Hirschsprung disease 2 (HSCR2) [MIM:600155] |
P24530 | pleiotropic | VAR_003469 | p.Gly57Ser | Non-Disease | rs1801710 | 0.0046 | - |
P24530 | pleiotropic | VAR_024255 | p.Arg76Met | Non-Disease | rs2228271 | 0.0028 | - |
P24530 | pleiotropic | VAR_014678 | p.Thr244Met | Non-Disease | rs5350 | 0.0028 | - |
P24530 | pleiotropic | VAR_014677 | p.Phe112Val | Non-Disease | rs5347 | - | - |
P24530 | pleiotropic | VAR_019285 | p.Pro5Thr | Non-Disease | rs12720160 | 0.0005 | - |
P24530 | pleiotropic | VAR_003473 | p.Arg319Trp | Disease | rs200363611 | 0.0002 | Hirschsprung disease 2 (HSCR2) [MIM:600155] |
P24530 | pleiotropic | VAR_003475 | p.Pro383Leu | Disease | - | - | Hirschsprung disease 2 (HSCR2) [MIM:600155] |
P24530 | pleiotropic | VAR_015294 | p.Phe292Leu | Disease | - | - | Waardenburg syndrome 4A (WS4A) [MIM:277580] |
P24530 | pleiotropic | VAR_014675 | p.Leu7Gln | Non-Disease | rs5345 | - | - |
P24530 | pleiotropic | VAR_003470 | p.Ala183Gly | Disease | - | - | Waardenburg syndrome 4A (WS4A) [MIM:277580] |
P13639 | non-pleiotropic | VAR_070792 | p.Pro596His | Disease | - | - | Spinocerebellar ataxia 26 (SCA26) [MIM:609306] |
Q12805 | non-pleiotropic | VAR_009513 | p.Arg345Trp | Disease | - | - | Doyne honeycomb retinal dystrophy (DHRD) [MIM:126600] |
Q12805 | non-pleiotropic | VAR_009512 | p.Ile220Phe | Non-Disease | - | - | - |
O95967 | non-pleiotropic | VAR_027019 | p.Glu57Lys | Disease | - | - | Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] |
O95967 | non-pleiotropic | VAR_067070 | p.Arg279Cys | Disease | - | - | Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] |
O95967 | non-pleiotropic | VAR_067069 | p.Cys267Tyr | Disease | - | - | Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] |
O95967 | non-pleiotropic | VAR_027020 | p.Ile259Val | Non-Disease | rs601314 | 0.0849 | - |
P98172 | non-pleiotropic | VAR_023130 | p.Leu98Ser | Disease | - | - | Craniofrontonasal syndrome (CFNS) [MIM:304110] |
P98172 | non-pleiotropic | VAR_023145 | p.Met158Val | Disease | rs28936071 | - | Craniofrontonasal syndrome (CFNS) [MIM:304110] |
P98172 | non-pleiotropic | VAR_023129 | p.Ile62Thr | Disease | - | - | Craniofrontonasal syndrome (CFNS) [MIM:304110] |
P98172 | non-pleiotropic | VAR_023127 | p.Pro27Arg | Disease | - | - | Craniofrontonasal syndrome (CFNS) [MIM:304110] |
P98172 | non-pleiotropic | VAR_023139 | p.Gly151Val | Disease | rs28936070 | - | Craniofrontonasal syndrome (CFNS) [MIM:304110] |
P98172 | non-pleiotropic | VAR_023137 | p.Ser138Phe | Disease | - | - | Craniofrontonasal syndrome (CFNS) [MIM:304110] |
P98172 | non-pleiotropic | VAR_023138 | p.Gly151Ser | Disease | rs28936069 | - | Craniofrontonasal syndrome (CFNS) [MIM:304110] |
P98172 | non-pleiotropic | VAR_023143 | p.Thr155Pro | Disease | - | - | Craniofrontonasal syndrome (CFNS) [MIM:304110] |
P98172 | non-pleiotropic | VAR_023147 | p.Val189Ala | Non-Disease | rs16989105 | 0.0175 | - |
P98172 | non-pleiotropic | VAR_023133 | p.Pro119His | Disease | - | - | Craniofrontonasal syndrome (CFNS) [MIM:304110] |
P98172 | non-pleiotropic | VAR_023128 | p.Pro54Leu | Disease | - | - | Craniofrontonasal syndrome (CFNS) [MIM:304110] |