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 201 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P51787 | pleiotropic | VAR_008951 | p.Thr587Met | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_009929 | p.Arg366Gln | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_009918 | p.Tyr111Cys | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_009921 | p.Gly179Ser | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001534 | p.Asp317Asn | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068313 | p.Ser389Tyr | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_009180 | p.Leu353Pro | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068314 | p.Arg452Trp | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001518 | p.Ala178Pro | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008125 | p.Tyr184Ser | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068300 | p.Glu290Lys | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068289 | p.Cys122Tyr | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068305 | p.Gly314Asp | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008944 | p.Glu261Asp | Disease | - | - | Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400] |
P51787 | pleiotropic | VAR_001540 | p.Leu342Phe | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_065777 | p.Ser277Leu | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_009923 | p.Ser225Leu | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008124 | p.Phe157Cys | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001532 | p.Gly314Ser | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008942 | p.Trp248Arg | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068299 | p.Tyr278His | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068323 | p.Leu619Met | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001527 | p.Trp305Ser | Disease | - | - | Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400] |
P51787 | pleiotropic | VAR_048025 | p.Lys362Arg | Disease | rs12720458 | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068295 | p.Arg259Cys | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_009927 | p.Thr311Ile | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068293 | p.Ile235Asn | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001522 | p.Val254Met | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068287 | p.Pro73Thr | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068302 | p.Arg293Cys | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068291 | p.Cys136Phe | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068322 | p.Ala590Thr | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068317 | p.Ser546Leu | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001531 | p.Ile313Met | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008126 | p.Gly345Arg | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008954 | p.Gly643Ser | Non-Disease | rs1800172 | 0.0174 | - |
P51787 | pleiotropic | VAR_068316 | p.Lys526Glu | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008943 | p.Leu250His | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008945 | p.Tyr281Cys | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068297 | p.Leu273Arg | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008947 | p.Lys318Asn | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068319 | p.Ser566Tyr | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068308 | p.Thr322Ala | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_010933 | p.Arg243Cys | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008946 | p.Tyr315Cys | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_048026 | p.Lys393Asn | Non-Disease | rs12720457 | 0.0005 | - |
P51787 | pleiotropic | VAR_009933 | p.Arg583Cys | Disease | rs17221854 | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001533 | p.Tyr315Ser | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008953 | p.Arg591His | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008128 | p.Trp392Arg | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |