Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074177
rs120074177
KCNQ1
A 0.700 CausalMutation CLINVAR Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1. 24912595

2014
dbSNP: rs120074177
rs120074177
KCNQ1
A 0.700 CausalMutation CLINVAR Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome. 22456477

2012
dbSNP: rs120074177
rs120074177
KCNQ1
A 0.700 CausalMutation CLINVAR Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. 17470695

2007
dbSNP: rs120074177
rs120074177
KCNQ1
A 0.700 CausalMutation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
dbSNP: rs120074177
rs120074177
KCNQ1
A 0.700 CausalMutation CLINVAR Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139

1997