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 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] |