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 80 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P02452 | pleiotropic | VAR_063334 | p.Gly1055Asp | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001691 | p.Pro823Ala | Non-Disease | rs1800214 | - | - |
P02452 | pleiotropic | VAR_030014 | p.Ser1251Thr | Non-Disease | rs3205325 | - | - |
P02452 | pleiotropic | VAR_013579 | p.Arg312Cys | Disease | - | - | Ehlers-Danlos syndrome 1 (EDS1) [MIM:130000] |
P02452 | pleiotropic | VAR_063320 | p.Gly683Ser | Disease | - | - | Osteogenesis imperfecta 4 (OI4) [MIM:166220] |
P02452 | pleiotropic | VAR_001709 | p.Gly1058Ser | Disease | - | - | Osteogenesis imperfecta 3 (OI3) [MIM:259420] Osteogenesis imperfecta 4 (OI4) [MIM:166220] |
P02452 | pleiotropic | VAR_001712 | p.Thr1075Ala | Non-Disease | rs1800215 | 0.0239 | - |
P02452 | pleiotropic | VAR_001653 | p.Gly356Cys | Disease | - | - | Osteogenesis imperfecta 4 (OI4) [MIM:166220] |
P02452 | pleiotropic | VAR_001645 | p.Gly224Cys | Disease | - | - | Osteogenesis imperfecta 1 (OI1) [MIM:166200] |
P02452 | pleiotropic | VAR_001719 | p.Gly1106Ala | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063321 | p.Gly722Ser | Disease | - | - | Osteogenesis imperfecta 1 (OI1) [MIM:166200] |
P02452 | pleiotropic | VAR_001687 | p.Gly776Ser | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063309 | p.Gly455Asp | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001694 | p.Gly845Arg | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001681 | p.Gly728Arg | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001665 | p.Gly527Cys | Disease | - | - | Osteogenesis imperfecta 4 (OI4) [MIM:166220] |
P02452 | pleiotropic | VAR_063313 | p.Pro555Arg | Disease | - | - | Osteogenesis imperfecta 1 (OI1) [MIM:166200] |
P02452 | pleiotropic | VAR_063298 | p.Gly266Glu | Disease | - | - | Osteogenesis imperfecta 1 (OI1) [MIM:166200] |
P02452 | pleiotropic | VAR_001683 | p.Gly743Ser | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001686 | p.Gly767Ser | Disease | - | - | Osteogenesis imperfecta 3 (OI3) [MIM:259420] |
P02452 | pleiotropic | VAR_001728 | p.Gly1184Val | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063315 | p.Gly581Arg | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001670 | p.Gly560Arg | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001713 | p.Gly1076Ser | Disease | - | - | Osteogenesis imperfecta 3 (OI3) [MIM:259420] |
P02452 | pleiotropic | VAR_033778 | p.Arg1141Gln | Non-Disease | rs41316713 | 0.0002 | - |
P02452 | pleiotropic | VAR_063312 | p.Gly548Ala | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001735 | p.Leu1388Arg | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001643 | p.Pro205Ala | Non-Disease | rs72667032 | 0.0028 | - |
P02452 | pleiotropic | VAR_001644 | p.Gly221Cys | Disease | - | - | Osteogenesis imperfecta 1 (OI1) [MIM:166200] |
P02452 | pleiotropic | VAR_001650 | p.Gly332Arg | Disease | - | - | Osteogenesis imperfecta 3 (OI3) [MIM:259420] |
P02452 | pleiotropic | VAR_033780 | p.Lys1430Asn | Non-Disease | rs1059454 | - | - |
P02452 | pleiotropic | VAR_063322 | p.Gly734Val | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001732 | p.Asp1277His | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001668 | p.Gly560Ser | Disease | - | - | Osteogenesis imperfecta 4 (OI4) [MIM:166220] |
P02452 | pleiotropic | VAR_001726 | p.Gly1172Asp | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001705 | p.Gly1040Ser | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] Osteogenesis imperfecta 3 (OI3) [MIM:259420] |
P02452 | pleiotropic | VAR_063297 | p.Gly257Arg | Disease | - | - | Osteogenesis imperfecta 4 (OI4) [MIM:166220] |
P02452 | pleiotropic | VAR_001667 | p.Gly533Asp | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_030016 | p.Pro1438Arg | Non-Disease | rs17857117 | - | - |
P02452 | pleiotropic | VAR_033779 | p.Val1177Ile | Non-Disease | rs41316719 | - | - |
P02452 | pleiotropic | VAR_063317 | p.Gly605Asp | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063338 | p.Gly1157Asp | Disease | - | - | Osteogenesis imperfecta 1 (OI1) [MIM:166200] |
P02452 | pleiotropic | VAR_001727 | p.Gly1181Ser | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001710 | p.Gly1061Asp | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063307 | p.Gly368Val | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063310 | p.Gly470Val | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001679 | p.Gly719Asp | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001688 | p.Gly809Ser | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001731 | p.Gly1195Cys | Disease | - | - | Osteogenesis imperfecta 1 (OI1) [MIM:166200] |
P02452 | pleiotropic | VAR_001720 | p.Gly1124Cys | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |