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 79 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P13942 | pleiotropic | VAR_033797 | p.Glu1628Asp | Non-Disease | rs2229790 | 0.003 | - |
P13942 | pleiotropic | VAR_025276 | p.Pro621Thr | Disease | - | - | Deafness, autosomal recessive, 53 (DFNB53) [MIM:609706] |
P13942 | pleiotropic | VAR_013592 | p.Glu824Lys | Non-Disease | rs1799909 | - | - |
P13942 | pleiotropic | VAR_013591 | p.Asp593Gly | Non-Disease | - | - | - |
P13942 | pleiotropic | VAR_048806 | p.Leu894Pro | Non-Disease | rs2855430 | 0.1022 | - |
P13942 | pleiotropic | VAR_048807 | p.Pro1722Leu | Non-Disease | rs2229792 | 0.0119 | - |
P13942 | pleiotropic | VAR_048805 | p.Glu276Lys | Non-Disease | rs9277934 | 0.2888 | - |
P13942 | pleiotropic | VAR_048804 | p.Pro236Ser | Non-Disease | rs35116188 | - | - |
P13942 | pleiotropic | VAR_013593 | p.Pro879Leu | Non-Disease | - | - | - |
P13942 | pleiotropic | VAR_010655 | p.Gly808Glu | Disease | - | - | Deafness, autosomal dominant, 13 (DFNA13) [MIM:601868] |
P13942 | pleiotropic | VAR_013596 | p.Pro1316Thr | Non-Disease | rs2229784 | 0.0537 | - |
P13942 | pleiotropic | VAR_013595 | p.Gly1441Glu | Disease | - | - | Weissenbacher-Zweymueller syndrome (WZS) [MIM:277610] |
Q9UMD9 | non-pleiotropic | VAR_017599 | p.Gly633Asp | Disease | - | - | Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] |
Q9UMD9 | non-pleiotropic | VAR_017597 | p.Gly428Ser | Non-Disease | rs805698 | 0.1589 | - |
Q9UMD9 | non-pleiotropic | VAR_048781 | p.Thr4Ala | Non-Disease | rs17116471 | 0.0294 | - |
Q9UMD9 | non-pleiotropic | VAR_017593 | p.Thr210Met | Non-Disease | rs805708 | 0.3994 | - |
Q9UMD9 | non-pleiotropic | VAR_017598 | p.Gly627Val | Disease | - | - | Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] |
Q9UMD9 | non-pleiotropic | VAR_017594 | p.Met231Ile | Non-Disease | rs1054113 | - | - |
Q9UMD9 | non-pleiotropic | VAR_017602 | p.Asp1370Gly | Non-Disease | rs17116350 | 0.2342 | - |
Q9UMD9 | non-pleiotropic | VAR_017596 | p.Ser265Cys | Disease | - | - | Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] |
Q9UMD9 | non-pleiotropic | VAR_017600 | p.Met703Val | Non-Disease | rs805722 | 0.2755 | - |
Q9UMD9 | non-pleiotropic | VAR_017601 | p.Arg1303Gln | Disease | rs121912771 | 0.0002 | Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650] |
Q9UMD9 | non-pleiotropic | VAR_017595 | p.Met238Thr | Non-Disease | - | - | - |
P02452 | pleiotropic | VAR_001717 | p.Gly1091Ser | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001656 | p.Gly389Arg | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063342 | p.Gly848Arg | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063302 | p.Gly320Val | Disease | - | - | Osteogenesis imperfecta 1 (OI1) [MIM:166200] |
P02452 | pleiotropic | VAR_063290 | p.Gly22Arg | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063305 | p.Gly353Asp | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001730 | p.Gly1187Val | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001711 | p.Gly1061Ser | Disease | - | - | Osteogenesis imperfecta 4 (OI4) [MIM:166220] |
P02452 | pleiotropic | VAR_001721 | p.Gly1142Ser | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001676 | p.Gly656Ser | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063323 | p.Gly740Arg | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_030015 | p.Gln1391Lys | Non-Disease | rs2586486 | - | - |
P02452 | pleiotropic | VAR_001648 | p.Gly272Cys | Disease | - | - | Osteogenesis imperfecta 1 (OI1) [MIM:166200] |
P02452 | pleiotropic | VAR_063299 | p.Gly287Ser | Disease | - | - | Osteogenesis imperfecta 1 (OI1) [MIM:166200] |
P02452 | pleiotropic | VAR_001671 | p.Arg564His | Non-Disease | rs1800211 | - | - |
P02452 | pleiotropic | VAR_001718 | p.Gly1100Asp | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001664 | p.Gly476Arg | Disease | rs57377812 | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001672 | p.Gly569Arg | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001661 | p.Gly422Cys | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063303 | p.Gly338Cys | Disease | - | - | Osteogenesis imperfecta 4 (OI4) [MIM:166220] |
P02452 | pleiotropic | VAR_001700 | p.Gly980Val | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_030017 | p.Pro1460His | Non-Disease | rs17853657 | - | - |
P02452 | pleiotropic | VAR_008118 | p.Gly866Ser | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] Osteogenesis imperfecta 3 (OI3) [MIM:259420] |
P02452 | pleiotropic | VAR_001736 | p.Thr1434Ser | Non-Disease | rs1800220 | - | - |
P02452 | pleiotropic | VAR_001684 | p.Gly743Val | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001642 | p.Gly197Cys | Non-Disease | rs8179178 | - | - |
P02452 | pleiotropic | VAR_001699 | p.Gly926Cys | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |