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 108 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q16610 | non-pleiotropic | VAR_014763 | p.Ser535Phe | Non-Disease | rs1050904 | - | - |
Q16610 | non-pleiotropic | VAR_014761 | p.Gly415Ser | Non-Disease | rs13294 | 0.2842 | - |
Q16610 | non-pleiotropic | VAR_018691 | p.Phe167Ile | Disease | - | - | Lipoid proteinosis (LiP) [MIM:247100] |
Q92838 | pleiotropic | VAR_005190 | p.Ala356Asp | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_054475 | p.Ser374Arg | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_005191 | p.Arg357Pro | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_054466 | p.Asp298Tyr | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_054473 | p.Asn372Asp | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_054460 | p.Gly189Glu | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_054474 | p.Met373Ile | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_064868 | p.Thr338Met | Disease | - | - | Tooth agenesis selective X-linked 1 (STHAGX1) [MIM:313500] |
Q92838 | pleiotropic | VAR_011077 | p.Gly255Cys | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_054464 | p.Gly218Asp | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_013487 | p.Phe302Ser | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_064867 | p.Val323Gly | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_064861 | p.Thr211Arg | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_054469 | p.Tyr320Cys | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_010614 | p.Gly291Trp | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_013486 | p.Gly269Val | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_064866 | p.Gly299Asp | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_054467 | p.Gln306His | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_010611 | p.His54Tyr | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_010615 | p.Asp298His | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_054456 | p.Lys158Asn | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_054476 | p.Thr378Pro | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_067319 | p.Ser319Arg | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_011079 | p.Trp274Gly | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_010613 | p.Gly291Arg | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_054454 | p.Arg153Cys | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_005184 | p.Arg156His | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_064858 | p.Arg156Gly | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_005182 | p.Arg155Cys | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_013488 | p.Thr378Met | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_011078 | p.Gly255Asp | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_064864 | p.Leu293Pro | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_064870 | p.Ala356Val | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_013484 | p.Cys60Arg | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_005179 | p.Tyr61His | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_005183 | p.Arg156Cys | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_054462 | p.Gly198Ala | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_005187 | p.His252Leu | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_067250 | p.Leu354Pro | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_054463 | p.Gly207Arg | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_010612 | p.Leu55Arg | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_011080 | p.Cys332Tyr | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_005185 | p.Pro209Leu | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_064871 | p.Gly381Arg | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_064865 | p.Leu296Val | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_064862 | p.Leu266Arg | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |
Q92838 | pleiotropic | VAR_054468 | p.Val307Gly | Disease | - | - | Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] |