Variant List

Listed below are all the variants used in our analysis. You can refine the list by using the panel below.
To see only proteins and their associated diseases, see page.

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Statistics

Found 7392 SAVs (36.7 %)from  pleiotropic protein  and 12743 SAVs (63.3 %) from non-pleiotropic protein.

pleiotropic

15222  disease SAVs  (75.6 %) and 4913 non-disease (24.4 %).

disease

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]