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 68 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P13569 | pleiotropic | VAR_048150 | p.Lys532Glu | Non-Disease | rs35032490 | - | - |
P13569 | pleiotropic | VAR_000190 | p.Tyr569Cys | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000144 | p.Phe311Leu | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000156 | p.Arg352Gln | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000186 | p.Arg560Thr | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000109 | p.Pro67Leu | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000166 | p.Ser492Phe | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000165 | p.Gly480Cys | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000256 | p.Gly1244Glu | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000126 | p.His139Arg | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000121 | p.Arg117Cys | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000184 | p.Arg560Lys | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000123 | p.Arg117Leu | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000247 | p.Trp1098Arg | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000219 | p.Glu822Lys | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000110 | p.Arg74Trp | Disease | rs115545701 | 0.0054 | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000143 | p.Ser307Asn | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000217 | p.Ala800Gly | Disease | - | - | Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
P13569 | pleiotropic | VAR_009898 | p.Val322Met | Non-Disease | rs1800085 | - | - |
P13569 | pleiotropic | VAR_000111 | p.Arg75Gln | Non-Disease | rs1800076 | 0.0133 | - |
P13569 | pleiotropic | VAR_009903 | p.Tyr903His | Non-Disease | rs1800106 | - | - |
P13569 | pleiotropic | VAR_000177 | p.Ser549Ile | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000189 | p.Tyr563Asn | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_009896 | p.Arg170His | Non-Disease | rs1800079 | - | - |
P13569 | pleiotropic | VAR_000178 | p.Ser549Arg | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000200 | p.Ala613Thr | Disease | rs201978662 | 0.0002 | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000258 | p.Ser1251Asn | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000211 | p.Thr665Ser | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000141 | p.Arg297Gln | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_011564 | p.Arg1070Trp | Disease | rs202179988 | 0.0002 | Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
P13569 | pleiotropic | VAR_000183 | p.Ala559Thr | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000212 | p.Arg668Cys | Non-Disease | rs1800100 | 0.0041 | - |
P13569 | pleiotropic | VAR_000231 | p.Met1028Ile | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000119 | p.Asp110His | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000246 | p.His1085Arg | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000207 | p.Gly628Arg | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000267 | p.Asn1303Lys | Disease | rs80034486 | 0.0002 | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000214 | p.Val754Met | Disease | rs150157202 | 0.0008 | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000151 | p.Thr338Ile | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_048151 | p.Ser605Phe | Non-Disease | rs766874 | - | - |
P13569 | pleiotropic | VAR_000210 | p.Asp651Asn | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000197 | p.Asp579Gly | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000259 | p.Ser1255Pro | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_009905 | p.Leu967Ser | Non-Disease | rs1800110 | 0.0005 | - |
P13569 | pleiotropic | VAR_000103 | p.Arg31Leu | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000104 | p.Ser42Phe | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000157 | p.Gln359Lys | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000180 | p.Gly551Ser | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000135 | p.Pro205Ser | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000138 | p.Met244Lys | Disease | - | - | Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |