rs120074185, KCNQ1

N. diseases: 3
Disease: Prolonged QT interval ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Prolonged QT interval
CUI: C0151878
Disease: Prolonged QT interval
0.700 CausalMutation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661 2016
Prolonged QT interval
CUI: C0151878
Disease: Prolonged QT interval
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
Prolonged QT interval
CUI: C0151878
Disease: Prolonged QT interval
0.700 CausalMutation CLINVAR PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions. 19934648 2010
Prolonged QT interval
CUI: C0151878
Disease: Prolonged QT interval
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
Prolonged QT interval
CUI: C0151878
Disease: Prolonged QT interval
0.700 CausalMutation CLINVAR Kv7.1 (KCNQ1) properties and channelopathies. 18174212 2008
Prolonged QT interval
CUI: C0151878
Disease: Prolonged QT interval
0.700 CausalMutation CLINVAR In the present study, we show that PIP2 affinity is reduced in three KCNQ1 mutant channels (R243H, R539W, and R555C) associated with the long QT syndrome. 15746441 2005
Prolonged QT interval
CUI: C0151878
Disease: Prolonged QT interval
0.700 CausalMutation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476 2005
Prolonged QT interval
CUI: C0151878
Disease: Prolonged QT interval
0.700 CausalMutation CLINVAR Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. 14760488 2004
Prolonged QT interval
CUI: C0151878
Disease: Prolonged QT interval
0.700 CausalMutation CLINVAR Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome. 12877697 2003
Prolonged QT interval
CUI: C0151878
Disease: Prolonged QT interval
0.700 CausalMutation CLINVAR In contrast, a missense mutation, Arg555Cys, identified in the C-terminal domain in 3 families, was associated with a significantly less pronounced QT prolongation (459+/-33 ms, n=41, versus 480+/-32 ms, n=70, P=.0012), and significantly lower percentages of symptomatic carriers (7 of 44, or 16%, P<.001) and sudden deaths (2 of 44, or 5%, P<.01). 9386136 1997