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 102 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q9UBM7 | non-pleiotropic | VAR_023157 | p.Trp182Cys | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_012720 | p.His119Leu | Disease | rs28938174 | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023156 | p.Ser169Leu | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023179 | p.Tyr408His | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023154 | p.Gly147Asp | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023167 | p.Cys311Gly | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023182 | p.Arg443Cys | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023173 | p.Arg362Cys | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023183 | p.Arg446Gln | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_012730 | p.Gly410Ser | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023152 | p.Gly138Val | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_067456 | p.Ser5Leu | Non-Disease | rs1127869 | 0.0009 | - |
Q9UBM7 | non-pleiotropic | VAR_023170 | p.Gly344Arg | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023176 | p.Ser397Leu | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_012726 | p.Val326Leu | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_052154 | p.Gly425Ser | Non-Disease | rs760242 | 0.0006 | - |
Q9UBM7 | non-pleiotropic | VAR_023165 | p.Val281Met | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_012728 | p.Cys380Ser | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023160 | p.Lys198Glu | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_016975 | p.Glu448Lys | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_012725 | p.Thr289Ile | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023158 | p.Trp182Leu | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023178 | p.His405Tyr | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023174 | p.Cys380Arg | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_012723 | p.Ala247Val | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023155 | p.Thr154Met | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_012722 | p.Gly244Arg | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023150 | p.Leu109Pro | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023175 | p.Cys380Tyr | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023162 | p.Arg242Cys | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023159 | p.Cys183Tyr | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023168 | p.Cys311Tyr | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023166 | p.Ile297Thr | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q86SQ9 | non-pleiotropic | VAR_065356 | p.Lys42Glu | Disease | - | - | Retinitis pigmentosa 59 (RP59) [MIM:613861] |
Q86SQ9 | non-pleiotropic | VAR_028088 | p.Val253Met | Non-Disease | rs3816539 | 0.4192 | - |
P00374 | non-pleiotropic | VAR_065819 | p.Asp153Val | Disease | - | - | Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839] |
P00374 | non-pleiotropic | VAR_065818 | p.Leu80Phe | Disease | - | - | Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839] |
Q02127 | non-pleiotropic | VAR_062415 | p.Arg199Cys | Disease | - | - | Postaxial acrofacial dysostosis (POADS) [MIM:263750] |
Q02127 | non-pleiotropic | VAR_062414 | p.Gly152Arg | Disease | - | - | Postaxial acrofacial dysostosis (POADS) [MIM:263750] |
Q02127 | non-pleiotropic | VAR_062418 | p.Arg244Trp | Disease | - | - | Postaxial acrofacial dysostosis (POADS) [MIM:263750] |
Q02127 | non-pleiotropic | VAR_062417 | p.Gly202Asp | Disease | - | - | Postaxial acrofacial dysostosis (POADS) [MIM:263750] |
Q02127 | non-pleiotropic | VAR_062412 | p.Gly19Glu | Disease | - | - | Postaxial acrofacial dysostosis (POADS) [MIM:263750] |
Q02127 | non-pleiotropic | VAR_062413 | p.Arg135Cys | Disease | - | - | Postaxial acrofacial dysostosis (POADS) [MIM:263750] |
Q02127 | non-pleiotropic | VAR_062416 | p.Gly202Ala | Disease | - | - | Postaxial acrofacial dysostosis (POADS) [MIM:263750] |
Q02127 | non-pleiotropic | VAR_062419 | p.Thr284Ile | Disease | - | - | Postaxial acrofacial dysostosis (POADS) [MIM:263750] |
Q02127 | non-pleiotropic | VAR_062420 | p.Arg346Trp | Disease | - | - | Postaxial acrofacial dysostosis (POADS) [MIM:263750] |
Q02127 | non-pleiotropic | VAR_022094 | p.Lys7Gln | Non-Disease | rs3213422 | 0.4359 | - |
Q02127 | non-pleiotropic | VAR_062421 | p.Asp392Gly | Disease | - | - | Postaxial acrofacial dysostosis (POADS) [MIM:263750] |
Q9NR28 | non-pleiotropic | VAR_066487 | p.Ser126Leu | Disease | - | - | Deafness, autosomal dominant, 64 (DFNA64) [MIM:614152] |
Q9UPY3 | pleiotropic | VAR_065301 | p.Ser839Phe | Disease | - | - | Goiter multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1) [MIM:138800] |