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 81 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P02452 | pleiotropic | VAR_001674 | p.Gly593Ser | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] Osteogenesis imperfecta 3 (OI3) [MIM:259420] |
P02452 | pleiotropic | VAR_001706 | p.Gly1043Ser | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063292 | p.Gly194Arg | Disease | - | - | Osteogenesis imperfecta 1 (OI1) [MIM:166200] |
P02452 | pleiotropic | VAR_063328 | p.Gly896Asp | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001673 | p.Gly593Cys | Disease | - | - | Osteogenesis imperfecta 3 (OI3) [MIM:259420] Osteogenesis imperfecta 4 (OI4) [MIM:166220] |
P02452 | pleiotropic | VAR_001649 | p.Gly275Asp | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001666 | p.Gly530Ser | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] Osteogenesis imperfecta 3 (OI3) [MIM:259420] Osteogenesis imperfecta 4 (OI4) [MIM:166220] |
P02452 | pleiotropic | VAR_030013 | p.Gly1019Ala | Non-Disease | rs1135348 | - | - |
P02452 | pleiotropic | VAR_001669 | p.Gly560Cys | Disease | - | - | Osteogenesis imperfecta 4 (OI4) [MIM:166220] |
P02452 | pleiotropic | VAR_033781 | p.Thr1431Pro | Non-Disease | rs1059454 | - | - |
P02452 | pleiotropic | VAR_001662 | p.Gly425Ser | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063327 | p.Gly875Ser | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001659 | p.Gly401Cys | Disease | - | - | Osteogenesis imperfecta 4 (OI4) [MIM:166220] |
P02452 | pleiotropic | VAR_063306 | p.Gly353Ser | Disease | - | - | Osteogenesis imperfecta 4 (OI4) [MIM:166220] |
P02452 | pleiotropic | VAR_063316 | p.Gly602Arg | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_033097 | p.Arg1014Cys | Disease | - | - | Caffey disease (CAFFD) [MIM:114000] |
P02452 | pleiotropic | VAR_001716 | p.Gly1088Ala | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063324 | p.Gly824Arg | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001696 | p.Gly869Cys | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001701 | p.Gly1010Ser | Disease | - | - | Osteogenesis imperfecta 4 (OI4) [MIM:166220] |
P02452 | pleiotropic | VAR_063332 | p.Gly1001Cys | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063318 | p.Gly614Arg | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063311 | p.Gly509Val | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001680 | p.Gly719Ser | Disease | - | - | Osteogenesis imperfecta 3 (OI3) [MIM:259420] |
P02452 | pleiotropic | VAR_063293 | p.Gly197Arg | Disease | - | - | Osteogenesis imperfecta 4 (OI4) [MIM:166220] |
P02452 | pleiotropic | VAR_001678 | p.Gly704Cys | Disease | - | - | Osteogenesis imperfecta 3 (OI3) [MIM:259420] |
P02452 | pleiotropic | VAR_001698 | p.Gly896Cys | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001703 | p.Gly1022Val | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001685 | p.Gly764Val | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063295 | p.Gly203Val | Disease | - | - | Osteogenesis imperfecta 3 (OI3) [MIM:259420] |
P02452 | pleiotropic | VAR_063319 | p.Gly647Ser | Disease | - | - | Osteogenesis imperfecta 1 (OI1) [MIM:166200] |
P02452 | pleiotropic | VAR_001677 | p.Gly701Cys | Disease | - | - | Osteogenesis imperfecta 4 (OI4) [MIM:166220] |
P02452 | pleiotropic | VAR_063325 | p.Gly833Asp | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001702 | p.Gly1022Ser | Disease | - | - | Osteogenesis imperfecta 3 (OI3) [MIM:259420] |
P02452 | pleiotropic | VAR_063294 | p.Gly200Val | Disease | - | - | Osteogenesis imperfecta 1 (OI1) [MIM:166200] |
P02452 | pleiotropic | VAR_001724 | p.Gly1154Arg | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001715 | p.Gly1082Cys | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001652 | p.Gly353Cys | Disease | - | - | Osteogenesis imperfecta 4 (OI4) [MIM:166220] |
P02452 | pleiotropic | VAR_001708 | p.Gly1049Ser | Disease | - | - | Osteogenesis imperfecta 3 (OI3) [MIM:259420] |
P02452 | pleiotropic | VAR_001714 | p.Gly1079Ser | Disease | - | - | Osteogenesis imperfecta 1 (OI1) [MIM:166200] Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001690 | p.Gly821Ser | Disease | - | - | Osteogenesis imperfecta 3 (OI3) [MIM:259420] |
P02452 | pleiotropic | VAR_001689 | p.Gly815Val | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063340 | p.Arg1356His | Non-Disease | - | - | - |
P02452 | pleiotropic | VAR_063304 | p.Val349Phe | Disease | - | - | Osteogenesis imperfecta 1 (OI1) [MIM:166200] |
P02452 | pleiotropic | VAR_001682 | p.Gly737Asp | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001697 | p.Gly884Ser | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] Osteogenesis imperfecta 3 (OI3) [MIM:259420] |
P02452 | pleiotropic | VAR_001646 | p.Gly263Arg | Disease | - | - | Osteogenesis imperfecta 1 (OI1) [MIM:166200] |
P02452 | pleiotropic | VAR_001693 | p.Gly842Arg | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063339 | p.Asp1219Glu | Disease | - | - | Osteogenesis imperfecta 1 (OI1) [MIM:166200] |
P02452 | pleiotropic | VAR_001658 | p.Gly398Asp | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |