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 84 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P02461 | pleiotropic | VAR_001799 | p.Gly1167Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011129 | p.Gly738Ser | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001774 | p.Gly582Ser | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001784 | p.Gly828Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011098 | p.Gly204Asp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001785 | p.Gly909Asp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001773 | p.Gly567Glu | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011126 | p.Gly660Asp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001780 | p.Gly756Glu | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001801 | p.Gly1173Glu | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011158 | p.Gly1173Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001782 | p.Gly786Arg | Disease | - | - | Aortic aneurysm, familial abdominal (AAA) [MIM:100070] |
P02461 | pleiotropic | VAR_011109 | p.Gly252Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011124 | p.Gly636Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011146 | p.Gly1011Glu | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011150 | p.Gly1050Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001770 | p.Gly228Glu | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001803 | p.Gly1182Glu | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011152 | p.Gly1098Asp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011131 | p.Gly744Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001767 | p.Leu169Phe | Disease | - | - | Aortic aneurysm, familial abdominal (AAA) [MIM:100070] |
P02461 | pleiotropic | VAR_001777 | p.Gly666Asp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001802 | p.Gly1176Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001795 | p.Gly1077Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001788 | p.Gly939Asp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011153 | p.Gly1098Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011101 | p.Gly219Cys | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011139 | p.Gly918Glu | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001776 | p.Pro635Leu | Non-Disease | - | - | - |
P02461 | pleiotropic | VAR_011097 | p.Gly192Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011107 | p.Gly252Asp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011149 | p.Gly1044Asp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011127 | p.Pro668Thr | Non-Disease | rs1801183 | 0.0018 | - |
P02461 | pleiotropic | VAR_011095 | p.Gly183Asp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011156 | p.Gly1164Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011099 | p.Gly204Ser | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011112 | p.Gly267Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011114 | p.Gly327Asp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001794 | p.Gly1071Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011140 | p.Gly924Cys | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001796 | p.Gly1101Glu | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011144 | p.Gly984Thr | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011102 | p.Gly225Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001797 | p.Gly1104Ala | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001783 | p.Gly804Ser | Disease | - | - | Ehlers-Danlos syndrome 3 (EDS3) [MIM:130020] |
P02461 | pleiotropic | VAR_011118 | p.Gly489Glu | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001791 | p.Gly996Glu | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011142 | p.Gly966Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001790 | p.Gly960Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_030115 | p.His1353Gln | Non-Disease | rs1516446 | 0.0032 | - |