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 46 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q8TAM1 | non-pleiotropic | VAR_026407 | p.Gly677Val | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_026393 | p.Cys91Trp | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_026404 | p.Lys579Arg | Disease | rs141521925 | 0.002 | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_052272 | p.Pro539Leu | Non-Disease | rs35676114 | 0.0354 | - |
Q8TAM1 | non-pleiotropic | VAR_026396 | p.Tyr197Cys | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_026395 | p.Cys195Trp | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_026401 | p.Pro363Leu | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_026394 | p.Leu170Ser | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_066259 | p.Ala636Val | Disease | rs113224628 | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_066252 | p.Leu55Pro | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_026397 | p.Val240Gly | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_066254 | p.Lys188Thr | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_026402 | p.Leu376Phe | Non-Disease | rs11109474 | - | - |
Q8TAM1 | non-pleiotropic | VAR_066255 | p.Met255Ile | Non-Disease | rs139658279 | - | - |
Q8TAM1 | non-pleiotropic | VAR_066258 | p.Leu600Ser | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_026403 | p.Leu414Ser | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_066253 | p.Asp142Asn | Non-Disease | rs142863601 | 0.0046 | - |
Q8TAM1 | non-pleiotropic | VAR_066261 | p.His715Arg | Non-Disease | - | - | - |
Q8TAM1 | non-pleiotropic | VAR_026399 | p.Ser311Ala | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_066257 | p.His410Gln | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_026392 | p.Arg49Trp | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q8TAM1 | non-pleiotropic | VAR_026398 | p.Leu308Phe | Disease | - | - | Bardet-Biedl syndrome 10 (BBS10) [MIM:209900] |
Q6ZW61 | non-pleiotropic | VAR_066270 | p.Arg355Gln | Disease | - | - | Bardet-Biedl syndrome 12 (BBS12) [MIM:209900] |
Q6ZW61 | non-pleiotropic | VAR_062965 | p.Thr501Met | Disease | - | - | Bardet-Biedl syndrome 12 (BBS12) [MIM:209900] |
Q6ZW61 | non-pleiotropic | VAR_034930 | p.Asp467Asn | Non-Disease | rs13135778 | 0.1093 | - |
Q6ZW61 | non-pleiotropic | VAR_062964 | p.Ile346Thr | Disease | - | - | Bardet-Biedl syndrome 12 (BBS12) [MIM:209900] |
Q6ZW61 | non-pleiotropic | VAR_066276 | p.Gly539Asp | Disease | - | - | Bardet-Biedl syndrome 12 (BBS12) [MIM:209900] |
Q6ZW61 | non-pleiotropic | VAR_034922 | p.Pro159Leu | Disease | - | - | Bardet-Biedl syndrome 12 (BBS12) [MIM:209900] |
Q6ZW61 | non-pleiotropic | VAR_034932 | p.Gly540Val | Disease | - | - | Bardet-Biedl syndrome 12 (BBS12) [MIM:209900] |
Q6ZW61 | non-pleiotropic | VAR_034926 | p.Ala289Pro | Disease | - | - | Bardet-Biedl syndrome 12 (BBS12) [MIM:209900] |
Q6ZW61 | non-pleiotropic | VAR_034931 | p.Arg484Lys | Non-Disease | rs35690634 | 0.0069 | - |
Q6ZW61 | non-pleiotropic | VAR_066267 | p.Gly119Ser | Non-Disease | rs77731085 | 0.0018 | - |
Q6ZW61 | non-pleiotropic | VAR_066268 | p.Tyr263His | Non-Disease | rs150040166 | 0.0002 | - |
Q6ZW61 | non-pleiotropic | VAR_034919 | p.Ile39Thr | Non-Disease | rs138036823 | 0.0041 | - |
Q6ZW61 | non-pleiotropic | VAR_034927 | p.Arg386Gln | Non-Disease | rs309370 | 0.4775 | - |
Q6ZW61 | non-pleiotropic | VAR_066266 | p.Leu88Arg | Disease | - | - | Bardet-Biedl syndrome 12 (BBS12) [MIM:209900] |
Q6ZW61 | non-pleiotropic | VAR_066277 | p.Arg674Cys | Disease | - | - | Bardet-Biedl syndrome 12 (BBS12) [MIM:209900] |
Q6ZW61 | non-pleiotropic | VAR_034924 | p.Lys195Arg | Non-Disease | rs17854892 | - | - |
Q6ZW61 | non-pleiotropic | VAR_034923 | p.Ile170Val | Non-Disease | - | - | - |
Q6ZW61 | non-pleiotropic | VAR_066271 | p.Val400Met | Disease | - | - | Bardet-Biedl syndrome 12 (BBS12) [MIM:209900] |
Q6ZW61 | non-pleiotropic | VAR_034928 | p.Ser429Thr | Non-Disease | rs7665271 | 0.034 | - |
Q6ZW61 | non-pleiotropic | VAR_066269 | p.Gln293Glu | Disease | - | - | Bardet-Biedl syndrome 12 (BBS12) [MIM:209900] |
Q6ZW61 | non-pleiotropic | VAR_034921 | p.Glu126Asp | Non-Disease | rs309369 | 0.0106 | - |
Q6ZW61 | non-pleiotropic | VAR_034933 | p.Ala615Val | Non-Disease | rs17857451 | 0.0002 | - |
Q6ZW61 | non-pleiotropic | VAR_034929 | p.Asn461His | Non-Disease | rs10027479 | 0.0129 | - |
Q6ZW61 | non-pleiotropic | VAR_034925 | p.Asn238Lys | Non-Disease | rs17006082 | 0.0037 | - |
Q6ZW61 | non-pleiotropic | VAR_066275 | p.Arg525His | Disease | - | - | Bardet-Biedl syndrome 12 (BBS12) [MIM:209900] |
Q9BXC9 | non-pleiotropic | VAR_066281 | p.Leu125Arg | Disease | - | - | Bardet-Biedl syndrome 2 (BBS2) [MIM:209900] |
Q9BXC9 | non-pleiotropic | VAR_066283 | p.Cys307Trp | Disease | - | - | Bardet-Biedl syndrome 2 (BBS2) [MIM:209900] |
Q9BXC9 | non-pleiotropic | VAR_013169 | p.Arg632Pro | Disease | - | - | Bardet-Biedl syndrome 2 (BBS2) [MIM:209900] |