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 269 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P05165 | non-pleiotropic | VAR_009094 | p.Met373Lys | Disease | - | - | Propionic acidemia type I (PA-1) [MIM:606054] |
P05165 | non-pleiotropic | VAR_009093 | p.Asp368Gly | Disease | - | - | Propionic acidemia type I (PA-1) [MIM:606054] |
P05165 | non-pleiotropic | VAR_009087 | p.Ala75Pro | Disease | - | - | Propionic acidemia type I (PA-1) [MIM:606054] |
P05165 | non-pleiotropic | VAR_023844 | p.Cys398Arg | Disease | - | - | Propionic acidemia type I (PA-1) [MIM:606054] |
P05166 | non-pleiotropic | VAR_009083 | p.Pro228Leu | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_000278 | p.Arg410Trp | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_023852 | p.Gly188Arg | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_023858 | p.Ala468Thr | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_000275 | p.Glu168Lys | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_023855 | p.Ile430Leu | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_023856 | p.Tyr435Cys | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_048163 | p.Pro287Ser | Non-Disease | rs2228310 | - | - |
P05166 | non-pleiotropic | VAR_000274 | p.Arg165Trp | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_009080 | p.Leu17Met | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_009085 | p.Met442Thr | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_009086 | p.Asn536Asp | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_000280 | p.Arg512Cys | Disease | rs186710233 | 0.0002 | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_009082 | p.Val205Asp | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_023848 | p.Val107Met | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_023849 | p.Gly112Asp | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_023850 | p.Ala153Pro | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_000276 | p.Gly198Asp | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_000281 | p.Leu519Pro | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_000272 | p.Ser106Arg | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_023857 | p.Tyr439Cys | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_023851 | p.Arg165Gln | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_023847 | p.Arg67Ser | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_000279 | p.Ala497Val | Disease | rs142403318 | 0.001 | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_000273 | p.Gly131Arg | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_009084 | p.Thr428Ile | Disease | rs28934887 | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_023853 | p.Gly246Val | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
P05166 | non-pleiotropic | VAR_000271 | p.Arg44Pro | Disease | - | - | Propionic acidemia type II (PA-2) [MIM:606054] |
Q96QU1 | pleiotropic | VAR_069297 | p.Asp178Gly | Disease | - | - | Usher syndrome 1D/F (USH1DF) [MIM:601067] |
Q96QU1 | pleiotropic | VAR_028289 | p.Ser19Ala | Non-Disease | rs11004439 | 0.2084 | - |
Q96QU1 | pleiotropic | VAR_024036 | p.Gly262Asp | Disease | - | - | Deafness, autosomal recessive, 23 (DFNB23) [MIM:609533] |
Q96QU1 | pleiotropic | VAR_024035 | p.Arg134Gly | Disease | - | - | Deafness, autosomal recessive, 23 (DFNB23) [MIM:609533] |
Q96QU1 | pleiotropic | VAR_028291 | p.Asp435Ala | Non-Disease | rs4935502 | 0.3452 | - |
Q96QU1 | pleiotropic | VAR_028290 | p.Gly380Ser | Non-Disease | rs10825269 | 0.208 | - |
Q96QU1 | pleiotropic | VAR_024037 | p.Gln1342Lys | Disease | rs61731387 | 0.0082 | Usher syndrome 1F (USH1F) [MIM:602083] |
Q96QU1 | pleiotropic | VAR_028292 | p.Arg929Gln | Non-Disease | rs2135720 | 0.2957 | - |
Q8TAB3 | non-pleiotropic | VAR_064483 | p.His203Pro | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_067479 | p.Pro236Ser | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_067481 | p.Pro344Arg | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_067480 | p.Ala262Asp | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_067474 | p.Ala153Thr | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_064840 | p.Leu81Arg | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_064842 | p.Thr146Arg | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_064848 | p.Asp618Asn | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_064487 | p.Asp377His | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |
Q8TAB3 | non-pleiotropic | VAR_046484 | p.Val441Glu | Disease | - | - | Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088] |