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
Disease name
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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 38 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q04656 pleiotropic VAR_023277 p.Ser1344Arg Disease - - Menkes disease (MNKD) [MIM:309400]
P35670 non-pleiotropic VAR_023040 p.Asp1279Gly Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000789 p.Gly1341Asp Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000739 p.Arg919Gly Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000753 p.Gly1035Val Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000745 p.Gly943Ser Disease rs28942076 - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_058930 p.Gly1149Ala Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000706 p.Ser406Ala Non-Disease rs1801243 0.4252 -
P35670 non-pleiotropic VAR_000787 p.Ser1310Arg Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000718 p.Gly710Arg Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000726 p.Leu776Val Non-Disease - - -
P35670 non-pleiotropic VAR_067337 p.Asn1332Asp Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_009017 p.Gly1061Glu Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000713 p.Asp642His Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_010018 p.Trp1153Arg Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000788 p.Arg1322Pro Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000722 p.Arg723Gly Non-Disease - - -
P35670 non-pleiotropic VAR_000757 p.Glu1064Lys Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_009015 p.Arg1041Pro Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_023041 p.Leu1305Pro Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000769 p.Trp1153Cys Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000776 p.Val1216Met Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_009013 p.Ala1003Val Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000774 p.Gly1186Ser Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000758 p.His1069Gln Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_044465 p.Leu776Pro Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000747 p.Arg969Gln Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_044492 p.Leu1368Pro Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000733 p.Pro840Leu Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_009032 p.Thr1434Met Disease rs60986317 0.0024 Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000716 p.Gly691Arg Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_023023 p.Val890Met Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_044461 p.Gly710Val Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_044463 p.Thr766Met Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_044454 p.Ala486Ser Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000736 p.Gly869Arg Disease rs191312027 0.001 Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_010017 p.Val1106Asp Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000738 p.Asp918Asn Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_009026 p.Val1239Gly Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000760 p.Gly1089Glu Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000775 p.Gly1213Val Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_044493 p.Cys1375Ser Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000741 p.Ser921Asn Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_044491 p.Pro1352Ser Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_009022 p.Arg1151His Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000712 p.Gly626Ala Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000703 p.Gly85Val Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_010013 p.Ile967Phe Disease rs60003608 - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000767 p.Val1146Met Disease - - Wilson disease (WD) [MIM:277900]
P35670 non-pleiotropic VAR_000751 p.Ala1003Thr Disease rs201497300 0.0002 Wilson disease (WD) [MIM:277900]