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 4 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
O95255 | pleiotropic | VAR_067877 | p.Arg807Trp | Disease | rs72653793 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067893 | p.Gly1133Ala | Disease | rs63750473 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067897 | p.Arg1221His | Disease | rs63751001 | - | Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473] |
O95255 | pleiotropic | VAR_067882 | p.Thr944Ile | Disease | rs72653801 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_060988 | p.Leu1097Ile | Non-Disease | rs60707953 | 0.0064 | - |
O95255 | pleiotropic | VAR_013369 | p.Ile319Val | Non-Disease | rs72657699 | - | - |
O95255 | pleiotropic | VAR_067898 | p.Leu1226Ile | Disease | rs63750125 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067852 | p.Ser398Gly | Disease | rs72653764 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067892 | p.Thr1130Met | Disease | rs63750459 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013386 | p.Gly1302Arg | Disease | rs63749856 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067895 | p.Arg1164Gln | Disease | rs63750457 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013392 | p.Gly1354Arg | Disease | rs63750018 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067860 | p.Ser590Phe | Disease | - | - | Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473] |
O95255 | pleiotropic | VAR_013367 | p.Arg265Gly | Non-Disease | rs78629019 | - | - |
O95255 | pleiotropic | VAR_067894 | p.Ala1139Thr | Disease | rs63750146 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013390 | p.Arg1339Cys | Disease | rs28939702 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013365 | p.Arg64Trp | Non-Disease | - | - | - |
O95255 | pleiotropic | VAR_067842 | p.Glu125Lys | Non-Disease | rs3853814 | - | - |
O95255 | pleiotropic | VAR_067909 | p.Arg1459Cys | Disease | rs72547524 | 0.0002 | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067858 | p.Ser535Pro | Disease | rs72653773 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067872 | p.Gly755Arg | Disease | rs72653787 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013373 | p.Asn497Lys | Non-Disease | rs72653770 | - | - |
O95255 | pleiotropic | VAR_067853 | p.Val417Met | Non-Disease | - | - | - |
O95255 | pleiotropic | VAR_067857 | p.Val514Ile | Non-Disease | rs59157279 | 0.0005 | - |
O95255 | pleiotropic | VAR_067864 | p.Leu677Pro | Disease | rs72653782 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067873 | p.Arg760Trp | Disease | rs72653788 | 0.0002 | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067863 | p.Gly663Cys | Disease | rs72653780 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013378 | p.Arg765Gln | Disease | rs67561842 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067859 | p.Phe551Ser | Disease | rs72653774 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_011494 | p.Arg1268Gln | Non-Disease | rs2238472 | 0.1938 | - |
O95255 | pleiotropic | VAR_067874 | p.Ala766Asp | Disease | rs72653789 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013389 | p.Gly1321Ser | Disease | rs63749823 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067905 | p.Pro1346Ser | Disease | rs63751112 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067862 | p.Arg600Cys | Disease | rs72653777 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067896 | p.Arg1221Cys | Disease | rs63751215 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067889 | p.Arg1064Trp | Non-Disease | rs41278174 | 0.011 | - |
O95255 | pleiotropic | VAR_067890 | p.Arg1114Cys | Disease | rs63749794 | 0.0002 | Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473] Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013388 | p.Arg1314Gln | Disease | - | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067888 | p.Asp1056Glu | Disease | rs72657694 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067878 | p.Val810Met | Disease | rs72653795 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067869 | p.Leu726Pro | Disease | rs72653785 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_013364 | p.Gly61Asp | Non-Disease | - | - | - |
O95255 | pleiotropic | VAR_067876 | p.Arg807Gln | Disease | rs72653794 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067885 | p.Gly992Arg | Disease | rs72657692 | - | Pseudoxanthoma elasticum (PXE) [MIM:264800] |
O95255 | pleiotropic | VAR_067850 | p.Arg391Gly | Disease | rs72653762 | 0.0028 | Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473] Pseudoxanthoma elasticum (PXE) [MIM:264800] |
Q09428 | pleiotropic | VAR_008652 | p.Ala1369Ser | Non-Disease | rs757110 | 0.2856 | - |
Q09428 | pleiotropic | VAR_031385 | p.Asp1471Asn | Disease | - | - | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] |
Q09428 | pleiotropic | VAR_015008 | p.Arg1436Gln | Disease | - | - | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] |
Q09428 | pleiotropic | VAR_031363 | p.Leu508Pro | Disease | - | - | Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] |
Q09428 | pleiotropic | VAR_029777 | p.Leu104Val | Non-Disease | rs10400391 | - | - |