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 12 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P37023 | non-pleiotropic | VAR_070335 | p.Pro378Ser | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026803 | p.Glu379Lys | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_006214 | p.Pro424Thr | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026787 | p.Asp179Ala | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_011717 | p.Ile245Asn | Non-Disease | rs1804508 | - | - |
P37023 | non-pleiotropic | VAR_070327 | p.His280Arg | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070323 | p.Gln237Lys | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070309 | p.Cys34Tyr | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026806 | p.Trp399Ser | Disease | rs28936402 | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_006213 | p.Arg411Gln | Disease | rs28936398 | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026816 | p.Lys487Thr | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026791 | p.Lys229Arg | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026811 | p.Phe425Val | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026790 | p.Gly223Arg | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026809 | p.Arg411Trp | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026805 | p.Ile398Asn | Disease | rs28936400 | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070318 | p.Thr197Ile | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026798 | p.Cys344Tyr | Disease | rs28936688 | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070330 | p.His328Gln | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070311 | p.Trp50Gly | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070317 | p.Asp176Tyr | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026813 | p.Arg479Leu | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026789 | p.Glu215Lys | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070316 | p.Leu138Pro | Non-Disease | - | - | - |
P37023 | non-pleiotropic | VAR_070319 | p.Trp217Gly | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026794 | p.Leu285Phe | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070331 | p.Asn335His | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_006212 | p.Met376Arg | Disease | rs28936399 | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070339 | p.Pro424Arg | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026797 | p.Leu337Pro | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_006206 | p.Arg67Gln | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070329 | p.Leu294Arg | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070312 | p.Thr52Ala | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026788 | p.Gly211Asp | Disease | rs28936687 | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026810 | p.Phe425Leu | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070314 | p.Cys69Arg | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_006205 | p.Cys51Tyr | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070333 | p.Cys344Arg | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026801 | p.Met376Val | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026802 | p.Pro378Leu | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070322 | p.Ser233Leu | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070334 | p.Ala347Asp | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070342 | p.Pro449Ser | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026815 | p.Arg484Trp | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070321 | p.Val226Glu | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_026804 | p.Asp397Gly | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070325 | p.Thr265Pro | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070310 | p.Ser38Cys | Non-Disease | - | - | - |
P37023 | non-pleiotropic | VAR_070340 | p.Tyr426Cys | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |
P37023 | non-pleiotropic | VAR_070313 | p.His66Pro | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376] |