Variant List

Listed below are all the variants used in our analysis. You can refine the list by using the panel below.
To see only proteins and their associated diseases, see page.

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Statistics

Found 7392 SAVs (36.7 %)from  pleiotropic protein  and 12743 SAVs (63.3 %) from non-pleiotropic protein.

pleiotropic

15222  disease SAVs  (75.6 %) and 4913 non-disease (24.4 %).

disease

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]