Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074184
rs120074184
KCNQ1
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
dbSNP: rs120074184
rs120074184
KCNQ1
A 0.710 CausalMutation CLINVAR