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 82 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P02452 | pleiotropic | VAR_063341 | p.Asp1413Asn | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001654 | p.Gly383Cys | Disease | - | - | Osteogenesis imperfecta 4 (OI4) [MIM:166220] |
P02452 | pleiotropic | VAR_001722 | p.Gly1151Ser | Disease | - | - | Osteogenesis imperfecta 3 (OI3) [MIM:259420] |
P02452 | pleiotropic | VAR_001692 | p.Gly839Ser | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001725 | p.Gly1166Cys | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063337 | p.Gly1094Ser | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001663 | p.Gly434Val | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001733 | p.Trp1312Cys | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001704 | p.Gly1025Arg | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001723 | p.Gly1151Val | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001657 | p.Gly398Ala | Disease | - | - | Osteogenesis imperfecta 4 (OI4) [MIM:166220] |
P02452 | pleiotropic | VAR_001729 | p.Gly1187Ser | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] Osteogenesis imperfecta 3 (OI3) [MIM:259420] |
P02452 | pleiotropic | VAR_001695 | p.Gly851Asp | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001737 | p.Leu1464Pro | Disease | - | - | Osteogenesis imperfecta 3 (OI3) [MIM:259420] |
P02452 | pleiotropic | VAR_063330 | p.Gly947Cys | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_063331 | p.Gly977Asp | Disease | - | - | Osteogenesis imperfecta 2 (OI2) [MIM:166210] |
P02452 | pleiotropic | VAR_001647 | p.Gly263Val | Disease | - | - | Osteogenesis imperfecta 1 (OI1) [MIM:166200] |
P02452 | pleiotropic | VAR_001651 | p.Gly350Arg | Disease | - | - | Osteogenesis imperfecta 3 (OI3) [MIM:259420] |
P02458 | pleiotropic | VAR_001763 | p.Gly1176Ser | Disease | - | - | Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] |
P02458 | pleiotropic | VAR_023930 | p.Gly855Ser | Disease | - | - | Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] |
P02458 | pleiotropic | VAR_024822 | p.Thr1390Asn | Disease | - | - | Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] |
P02458 | pleiotropic | VAR_001754 | p.Gly969Ser | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_023925 | p.Gly318Arg | Disease | - | - | Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508] |
P02458 | pleiotropic | VAR_001759 | p.Gly1110Cys | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_033783 | p.Thr638Ile | Non-Disease | rs41263847 | 0.0046 | - |
P02458 | pleiotropic | VAR_001745 | p.Gly492Val | Disease | - | - | Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250] |
P02458 | pleiotropic | VAR_017639 | p.Gly453Asp | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_001764 | p.Gly1188Arg | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_017649 | p.Gly1065Val | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_024826 | p.Cys1485Gly | Disease | - | - | Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] |
P02458 | pleiotropic | VAR_001755 | p.Arg989Cys | Disease | - | - | Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] |
P02458 | pleiotropic | VAR_001748 | p.Arg719Cys | Disease | - | - | Osteoarthritis with mild chondrodysplasia (OACD) [MIM:604864] |
P02458 | pleiotropic | VAR_001765 | p.Gly1197Ser | Disease | - | - | Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] |
P02458 | pleiotropic | VAR_001739 | p.Arg275Cys | Disease | - | - | Czech dysplasia (CZECHD) [MIM:609162] |
P02458 | pleiotropic | VAR_001746 | p.Gly504Cys | Disease | - | - | Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250] |
P02458 | pleiotropic | VAR_033782 | p.Glu142Asp | Non-Disease | rs34392760 | 0.0266 | - |
P02458 | pleiotropic | VAR_001738 | p.Gly267Asp | Disease | - | - | Stickler syndrome 1 non-syndromic ocular (STL1O) [MIM:609508] |
P02458 | pleiotropic | VAR_023928 | p.Leu667Phe | Disease | - | - | Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508] |
P02458 | pleiotropic | VAR_063894 | p.Gly282Asp | Disease | - | - | Stickler syndrome 1 (STL1) [MIM:108300] |
P02458 | pleiotropic | VAR_017642 | p.Gly780Arg | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_017650 | p.Gly1119Arg | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_023927 | p.Arg565Cys | Disease | - | - | Stickler syndrome 1 (STL1) [MIM:108300] |
P02458 | pleiotropic | VAR_019836 | p.Pro158Leu | Non-Disease | rs1050861 | - | - |
P02458 | pleiotropic | VAR_063895 | p.Gly453Ala | Disease | - | - | Stickler syndrome 1 (STL1) [MIM:108300] |
P02458 | pleiotropic | VAR_033784 | p.Ala1051Thr | Non-Disease | rs41272041 | 0.0005 | - |
P02458 | pleiotropic | VAR_023933 | p.Gly1170Ser | Disease | - | - | Primary avascular necrosis of femoral head (ANFH) [MIM:608805] |
P02458 | pleiotropic | VAR_001741 | p.Gly303Asp | Disease | - | - | Kniest dysplasia (KD) [MIM:156550] |
P02458 | pleiotropic | VAR_001753 | p.Gly909Cys | Disease | - | - | Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250] |
P02458 | pleiotropic | VAR_017638 | p.Thr9Ser | Non-Disease | rs3803183 | 0.3049 | - |
P02458 | pleiotropic | VAR_024823 | p.Thr1448Pro | Disease | - | - | Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] |