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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UniProtID
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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 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]