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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UniProtID
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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 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]