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 40 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P35670 | non-pleiotropic | VAR_023033 | p.Thr1143Asn | Non-Disease | - | - | - |
P35670 | non-pleiotropic | VAR_000742 | p.Thr933Pro | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_023025 | p.Asp918Glu | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_009021 | p.Cys1104Phe | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_000782 | p.Asp1267Ala | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_010014 | p.Thr1031Ile | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_000711 | p.Asn565Ser | Non-Disease | - | - | - |
P35670 | non-pleiotropic | VAR_000772 | p.Ala1183Thr | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_000768 | p.Ile1148Thr | Disease | rs60431989 | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_044490 | p.Gly1341Val | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_023039 | p.Asp1271Asn | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_023044 | p.Leu1373Pro | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_000759 | p.Leu1083Phe | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_023022 | p.Gly875Arg | Non-Disease | - | - | - |
P35670 | non-pleiotropic | VAR_009010 | p.Leu795Arg | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_044483 | p.Gln1256Arg | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_000707 | p.Val446Leu | Non-Disease | - | - | - |
P35670 | non-pleiotropic | VAR_010012 | p.Gly891Val | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_023032 | p.Gly1111Asp | Disease | rs182659444 | 0.0002 | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_058927 | p.Ala971Val | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_023015 | p.Ser693Cys | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_000762 | p.Gly1101Arg | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_000727 | p.Arg778Gly | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_000729 | p.Arg778Gln | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_000744 | p.Gly943Asp | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_044458 | p.His639Tyr | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_044464 | p.Thr766Arg | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_058925 | p.Val536Ala | Disease | rs138427376 | 0.0016 | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_023024 | p.Gln898Arg | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_023027 | p.Ser975Tyr | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_044486 | p.Asp1296Asn | Disease | rs199821556 | 0.0002 | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_023013 | p.Leu641Ser | Disease | rs186924074 | 0.0004 | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_023036 | p.Pro1245Ser | Non-Disease | - | - | - |
P35670 | non-pleiotropic | VAR_044495 | p.Asp1407Glu | Non-Disease | - | - | - |
P35670 | non-pleiotropic | VAR_000737 | p.Ala874Val | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_023038 | p.Leu1255Ile | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_023045 | p.Leu1373Arg | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_000721 | p.Tyr713Cys | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_067338 | p.Gly1341Arg | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_009006 | p.Gly711Arg | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_023016 | p.Ser721Pro | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_009009 | p.Met769Arg | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_044472 | p.Met996Thr | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_000764 | p.Val1109Met | Non-Disease | - | - | - |
P35670 | non-pleiotropic | VAR_010019 | p.Gly1176Arg | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_044475 | p.Ala1065Pro | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_044482 | p.Val1252Ile | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_000770 | p.Met1169Val | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_023028 | p.Thr1033Ser | Disease | - | - | Wilson disease (WD) [MIM:277900] |
P35670 | non-pleiotropic | VAR_000784 | p.Pro1273Leu | Disease | - | - | Wilson disease (WD) [MIM:277900] |