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 86 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P02462 | pleiotropic | VAR_064499 | p.Gly1580Arg | Disease | - | - | Porencephaly 1 (POREN1) [MIM:175780] |
P02462 | pleiotropic | VAR_044161 | p.Gly528Glu | Disease | - | - | Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] |
P02462 | pleiotropic | VAR_030028 | p.Gly562Glu | Disease | - | - | Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595] |
P02462 | pleiotropic | VAR_044158 | p.Pro304Leu | Non-Disease | rs34843786 | 0.0037 | - |
P02462 | pleiotropic | VAR_030511 | p.Thr555Pro | Non-Disease | rs536174 | 0.0 | - |
P02462 | pleiotropic | VAR_064494 | p.Gly510Arg | Disease | - | - | Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] |
P02462 | pleiotropic | VAR_030030 | p.Gly1130Asp | Disease | - | - | Porencephaly 1 (POREN1) [MIM:175780] |
P02462 | pleiotropic | VAR_064497 | p.Gly755Arg | Disease | - | - | Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595] |
P02462 | pleiotropic | VAR_064493 | p.Gly498Arg | Disease | - | - | Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] |
P02462 | pleiotropic | VAR_064496 | p.Gly720Asp | Disease | - | - | Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595] |
P02462 | pleiotropic | VAR_030029 | p.Gly749Ser | Disease | - | - | Porencephaly 1 (POREN1) [MIM:175780] |
P29400 | non-pleiotropic | VAR_001958 | p.Gly1143Ser | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001954 | p.Gly872Arg | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011282 | p.Gly1244Asp | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011270 | p.Gly1039Ser | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001965 | p.Arg1422Cys | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001918 | p.Gly177Arg | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001928 | p.Gly374Ala | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011290 | p.Arg1677Pro | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_007998 | p.Gly635Asp | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001937 | p.Gly494Asp | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001968 | p.Pro1517Thr | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011237 | p.Gly524Asp | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_007997 | p.Gly579Arg | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011252 | p.Pro739Ser | Disease | rs104886164 | 0.0034 | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011227 | p.Gly295Asp | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011269 | p.Gly1036Val | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001963 | p.Arg1410Cys | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011275 | p.Gly1158Arg | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011260 | p.Gly911Glu | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011222 | p.Gly204Val | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001950 | p.Gly796Arg | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001943 | p.Gly638Val | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011281 | p.Gly1229Asp | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001946 | p.Lys664Asn | Non-Disease | rs34077552 | 0.006 | - |
P29400 | non-pleiotropic | VAR_001959 | p.Gly1182Arg | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_007992 | p.Gly331Val | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001939 | p.Gly521Cys | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011268 | p.Gly1030Ser | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001930 | p.Gly400Glu | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001929 | p.Gly383Asp | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011262 | p.Gly947Asp | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011225 | p.Gly264Arg | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011234 | p.Gly423Glu | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_001967 | p.Ala1498Asp | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011291 | p.Cys1678Trp | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_008006 | p.Gly878Arg | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_007993 | p.Gly472Arg | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011287 | p.Ser1488Phe | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |
P29400 | non-pleiotropic | VAR_011230 | p.Gly412Val | Disease | - | - | Alport syndrome, X-linked (APSX) [MIM:301050] |