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 267 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P23760 | pleiotropic | VAR_003802 | p.Lys85Glu | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |
P23760 | pleiotropic | VAR_013641 | p.Gln391His | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |
P23760 | pleiotropic | VAR_003801 | p.Ser84Phe | Disease | - | - | Waardenburg syndrome 3 (WS3) [MIM:148820] |
P23760 | pleiotropic | VAR_003804 | p.Phe238Ser | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |
P23760 | pleiotropic | VAR_003797 | p.Val60Met | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |
P23760 | pleiotropic | VAR_013619 | p.Arg270Cys | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] Waardenburg syndrome 3 (WS3) [MIM:148820] |
P23760 | pleiotropic | VAR_003806 | p.Arg271Gly | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |
P23760 | pleiotropic | VAR_003794 | p.Arg56Leu | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |
P23760 | pleiotropic | VAR_017537 | p.Arg271Cys | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |
P23760 | pleiotropic | VAR_003790 | p.Phe45Leu | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |
P23760 | pleiotropic | VAR_017536 | p.Trp266Cys | Disease | - | - | Waardenburg syndrome 1 (WS1) [MIM:193500] |
P23760 | pleiotropic | VAR_003807 | p.Thr315Lys | Non-Disease | rs2234675 | 0.0207 | - |
Q02548 | non-pleiotropic | VAR_070681 | p.Val151Ile | Non-Disease | - | 0.011 | - |
Q02548 | non-pleiotropic | VAR_070676 | p.Arg59Gly | Non-Disease | - | - | - |
Q02548 | non-pleiotropic | VAR_070680 | p.Ile139Thr | Non-Disease | - | - | - |
Q02548 | non-pleiotropic | VAR_070679 | p.Pro80Arg | Non-Disease | - | - | - |
Q02548 | non-pleiotropic | VAR_070673 | p.Val26Gly | Non-Disease | - | - | - |
Q02548 | non-pleiotropic | VAR_070686 | p.Gly338Val | Non-Disease | - | - | - |
Q02548 | non-pleiotropic | VAR_070672 | p.Gly24Arg | Non-Disease | - | - | - |
Q02548 | non-pleiotropic | VAR_034370 | p.Ala322Thr | Non-Disease | rs34810717 | 0.0032 | - |
Q02548 | non-pleiotropic | VAR_070675 | p.Asp53Val | Non-Disease | - | - | - |
Q02548 | non-pleiotropic | VAR_070674 | p.Pro34Gln | Non-Disease | - | - | - |
Q02548 | non-pleiotropic | VAR_070684 | p.Ser213Leu | Non-Disease | - | 0.0005 | - |
Q02548 | non-pleiotropic | VAR_070682 | p.Gly183Ser | Disease | - | - | Leukemia, acute lymphoblastic, 3 (ALL3) [MIM:613065] |
Q02548 | non-pleiotropic | VAR_070677 | p.Ser66Asn | Non-Disease | - | - | - |
Q02548 | non-pleiotropic | VAR_070683 | p.Gly183Val | Non-Disease | - | - | - |
Q02548 | non-pleiotropic | VAR_070678 | p.Thr75Arg | Non-Disease | - | - | - |
Q02548 | non-pleiotropic | VAR_070685 | p.Ile301Thr | Non-Disease | - | - | - |
P26367 | pleiotropic | VAR_008705 | p.Val126Asp | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_003811 | p.Ile29Val | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_017544 | p.Ser363Pro | Disease | - | - | Peters anomaly (PETAN) [MIM:604229] |
P26367 | pleiotropic | VAR_008706 | p.Arg208Gln | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_047865 | p.Ile87Lys | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_008698 | p.Ser43Pro | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_047866 | p.Arg242Thr | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_003812 | p.Arg44Gln | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_017541 | p.Arg125Cys | Disease | - | - | Foveal hypoplasia 1 (FVH1) [MIM:136520] |
P26367 | pleiotropic | VAR_008699 | p.Val53Leu | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_017542 | p.Phe258Ser | Disease | - | - | Coloboma of iris choroid and retina (COI) [MIM:120200] |
P26367 | pleiotropic | VAR_008695 | p.Ala33Pro | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_017546 | p.Met381Val | Disease | - | - | Bilateral optic nerve hypoplasia (BONH) [MIM:165550] |
P26367 | pleiotropic | VAR_047868 | p.Gly387Asp | Non-Disease | - | - | - |
P26367 | pleiotropic | VAR_008703 | p.Ala79Glu | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_003813 | p.Ile87Arg | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_047864 | p.Gly73Asp | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_003815 | p.Gln178His | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_047861 | p.Leu46Arg | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_047862 | p.Cys52Arg | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_008707 | p.Ser353Ala | Disease | - | - | Aniridia (AN) [MIM:106210] |
P26367 | pleiotropic | VAR_008700 | p.Val53Asp | Disease | - | - | Peters anomaly (PETAN) [MIM:604229] |