rs120074184, KCNQ1

N. diseases: 2
Disease: Long QT Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.710 GeneticVariation BEFREE G314S, co-expressed with WT KCNQ1 and KCNE1, suppressed I(ks) currents in a dominant-negative manner, which is consistent with long QT syndrome in the members of the Chinese family carrying G314S KCNQ1 mutation. 19348785 2009
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.710 CausalMutation CLINVAR