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 202 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P51787 | pleiotropic | VAR_068304 | p.Trp304Arg | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001538 | p.Ala341Glu | Disease | rs12720459 | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001517 | p.Arg174Cys | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068318 | p.Arg555His | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001519 | p.Gly189Arg | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001516 | p.Gly168Arg | Disease | rs179489 | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068296 | p.Arg259Leu | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001539 | p.Ala341Val | Disease | rs12720459 | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_009922 | p.Ala194Pro | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068320 | p.Ile567Ser | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008952 | p.Gly589Asp | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_009930 | p.Thr391Ile | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001544 | p.Ala371Thr | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001528 | p.Gly306Arg | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008949 | p.Arg533Trp | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_009934 | p.Arg594Gln | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_009926 | p.Val310Ile | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001542 | p.Gly345Glu | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068309 | p.Pro343Ser | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001536 | p.Gly325Arg | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_010934 | p.Val417Met | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_009924 | p.Leu266Pro | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008127 | p.Ser373Pro | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001524 | p.Gly269Asp | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001541 | p.Ala344Val | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008940 | p.Asp242Asn | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068310 | p.Ala344Glu | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001530 | p.Thr312Ile | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068311 | p.Leu374His | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068301 | p.Gly292Asp | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068312 | p.Arg380Ser | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008950 | p.Arg539Trp | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008941 | p.Arg243His | Disease | - | - | Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400] |
P51787 | pleiotropic | VAR_001535 | p.Pro320Ala | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068306 | p.Gly314Arg | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068321 | p.Gly568Arg | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_065778 | p.Pro320His | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_009931 | p.Pro448Arg | Disease | rs12720449 | 0.0226 | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001525 | p.Leu273Phe | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_009920 | p.Ala178Thr | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_009932 | p.Ser566Phe | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008939 | p.Arg174His | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068290 | p.Val133Ile | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001526 | p.Ala300Thr | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
O43525 | non-pleiotropic | VAR_053859 | p.Glu414Gly | Non-Disease | rs2303995 | 0.0592 | - |
O43525 | non-pleiotropic | VAR_026994 | p.Asp305Gly | Disease | - | - | Seizures, benign familial neonatal 2 (BFNS2) [MIM:121201] |
O43525 | non-pleiotropic | VAR_026995 | p.Asn468Ser | Non-Disease | rs118192252 | 0.0005 | - |
O43525 | non-pleiotropic | VAR_001546 | p.Gly310Val | Disease | - | - | Seizures, benign familial neonatal 2 (BFNS2) [MIM:121201] |
O43525 | non-pleiotropic | VAR_010935 | p.Trp309Arg | Disease | - | - | Seizures, benign familial neonatal 2 (BFNS2) [MIM:121201] |
P56696 | non-pleiotropic | VAR_001547 | p.Gly285Ser | Disease | rs28937588 | - | Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101] |