rs1554895166, KCNQ1

N. diseases: 1
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
0.700 CausalMutation CLINVAR Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. 23098067 2012
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
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
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300 2009
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.700 CausalMutation CLINVAR Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. 14998624 2004