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 83 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P02458 | pleiotropic | VAR_001761 | p.Gly1143Ser | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_017643 | p.Gly795Arg | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_001749 | p.Gly774Ser | Disease | - | - | Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] |
P02458 | pleiotropic | VAR_063892 | p.Gly240Asp | Disease | - | - | Stickler syndrome 1 (STL1) [MIM:108300] |
P02458 | pleiotropic | VAR_033785 | p.Gly1405Ser | Non-Disease | rs2070739 | 0.1956 | - |
P02458 | pleiotropic | VAR_024821 | p.Gly771Ala | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_063891 | p.Cys57Tyr | Disease | - | - | Stickler syndrome 1 non-syndromic ocular (STL1O) [MIM:609508] |
P02458 | pleiotropic | VAR_017646 | p.Gly948Asp | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_017641 | p.Gly771Asp | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_017645 | p.Arg904Cys | Disease | - | - | Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:132450] Stickler syndrome 1 (STL1) [MIM:108300] |
P02458 | pleiotropic | VAR_001757 | p.Gly1017Val | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_024820 | p.Gly717Val | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_063898 | p.Gly1158Ala | Disease | - | - | Stickler syndrome 1 (STL1) [MIM:108300] |
P02458 | pleiotropic | VAR_001744 | p.Gly447Ser | Disease | - | - | Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] |
P02458 | pleiotropic | VAR_023935 | p.Tyr1391Cys | Disease | - | - | Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] |
P02458 | pleiotropic | VAR_001747 | p.Gly510Asp | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_001752 | p.Gly891Arg | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] |
P02458 | pleiotropic | VAR_024824 | p.Asp1469His | Disease | - | - | Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210] |
P02458 | pleiotropic | VAR_023929 | p.Gly717Ser | Disease | - | - | Primary avascular necrosis of femoral head (ANFH) [MIM:608805] |
P02458 | pleiotropic | VAR_017644 | p.Gly894Glu | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_017105 | p.Thr1439Met | Disease | - | - | Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] |
P02458 | pleiotropic | VAR_063897 | p.Asp547Val | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_063893 | p.Gly270Arg | Disease | - | - | Stickler syndrome 1 (STL1) [MIM:108300] |
P02458 | pleiotropic | VAR_063896 | p.Gly501Arg | Disease | - | - | Stickler syndrome 1 (STL1) [MIM:108300] |
P02458 | pleiotropic | VAR_017647 | p.Gly981Ser | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_017652 | p.Val1331Ile | Non-Disease | rs12721427 | 0.0363 | - |
P02458 | pleiotropic | VAR_023932 | p.Arg992Gly | Disease | - | - | Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250] |
P02458 | pleiotropic | VAR_017651 | p.Gly1173Arg | Disease | - | - | Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] |
P02458 | pleiotropic | VAR_001743 | p.Gly375Arg | Disease | - | - | Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] |
P02458 | pleiotropic | VAR_024819 | p.Gly513Ser | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_017640 | p.Gly453Val | Disease | - | - | Achondrogenesis 2 (ACG2) [MIM:200610] |
P02458 | pleiotropic | VAR_023931 | p.Gly897Val | Disease | - | - | Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250] |
P02461 | pleiotropic | VAR_001800 | p.Gly1170Asp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011143 | p.Gly972Ala | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011155 | p.Gly1164Glu | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011108 | p.Gly252Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011130 | p.Gly738Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011119 | p.Gly501Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011157 | p.Gly1170Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011121 | p.Gly549Glu | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011154 | p.Gly1161Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011141 | p.Gly942Glu | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001786 | p.Gly936Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011147 | p.Gly1032Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001787 | p.Gly936Ser | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011117 | p.Gly444Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011145 | p.Gly999Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001779 | p.Gly726Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011116 | p.Gly417Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_055667 | p.Pro686Ala | Non-Disease | rs41263775 | 0.0005 | - |