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 3 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
O95255 | pleiotropic | VAR_013374 | p.Arg518Gln | Disease | rs72653772 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067900 | p.Asp1238His | Disease | rs63749796 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013371 | p.Asn411Lys | Disease | rs9930886 | 0.2827 | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013379 | p.Leu953His | Non-Disease | rs72657700 | - | - |
O95255 | pleiotropic | VAR_067845 | p.Ser317Arg | Disease | rs78678589 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067843 | p.Gly129Glu | Disease | - | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067851 | p.Lys392Asn | Disease | - | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067880 | p.Ala820Pro | Disease | rs72653797 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067907 | p.Glu1400Lys | Disease | rs63751241 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067901 | p.Leu1335Pro | Disease | - | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067846 | p.Leu355Arg | Disease | rs72653758 | - | Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473] Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013377 | p.Leu673Pro | Disease | rs67470842 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013387 | p.Ala1303Pro | Disease | - | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013376 | p.His632Gln | Non-Disease | rs8058694 | 0.3577 | - |
O95255 | pleiotropic | VAR_059108 | p.Met848Val | Non-Disease | rs6416668 | 0.0357 | - |
O95255 | pleiotropic | VAR_055477 | p.Val665Ala | Non-Disease | rs4341770 | - | - |
O95255 | pleiotropic | VAR_013391 | p.Gln1347His | Disease | rs67720869 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013375 | p.Phe568Ser | Disease | rs66864704 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067875 | p.Asp777Asn | Disease | rs72653790 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067883 | p.Leu946Ile | Non-Disease | rs61340537 | 0.0124 | - |
O95255 | pleiotropic | VAR_067903 | p.Arg1339Leu | Disease | - | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067844 | p.Ala158Val | Non-Disease | - | - | - |
O95255 | pleiotropic | VAR_013366 | p.Gly207Arg | Non-Disease | - | - | - |
O95255 | pleiotropic | VAR_013381 | p.Arg1138Pro | Disease | - | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_011490 | p.Val614Ala | Non-Disease | rs12931472 | 0.3737 | - |
O95255 | pleiotropic | VAR_013380 | p.Ser1121Trp | Disease | - | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067899 | p.Arg1235Trp | Disease | rs63750402 | 0.0002 | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067884 | p.Ala950Thr | Disease | rs72657689 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067904 | p.Arg1339His | Disease | rs63750622 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013372 | p.Ala455Pro | Disease | rs67996819 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067879 | p.Thr811Met | Disease | rs72653796 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067848 | p.Asn370Asp | Disease | rs72653760 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013393 | p.Asp1361Asn | Disease | rs58695352 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013385 | p.Thr1301Ile | Disease | rs63750494 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067861 | p.Ala594Val | Disease | rs72653776 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067868 | p.Arg724Leu | Non-Disease | - | - | - |
O95255 | pleiotropic | VAR_067908 | p.Gln1406Lys | Disease | - | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_011491 | p.Arg1114Pro | Disease | - | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067881 | p.Arg881Ser | Disease | rs72653800 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067902 | p.Leu1335Gln | Disease | rs63750414 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_011493 | p.Arg1138Trp | Disease | rs28939701 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013384 | p.Val1298Phe | Disease | - | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013394 | p.Ile1424Thr | Disease | rs63750295 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067841 | p.Ala78Thr | Non-Disease | - | - | - |
O95255 | pleiotropic | VAR_067855 | p.Leu463His | Disease | rs72653767 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_011492 | p.Arg1138Gln | Disease | rs60791294 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067891 | p.Ser1121Leu | Disease | - | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013383 | p.Trp1241Cys | Non-Disease | rs72657701 | - | - |
O95255 | pleiotropic | VAR_067866 | p.Glu699Asp | Disease | rs72653784 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067906 | p.Arg1357Trp | Disease | rs63750428 | 0.0002 | Pseudoxanthoma elasticum (PXE) [MIM:264800] |