Disease: Long QT Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472720
rs199472720
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2. 26346102 2015
dbSNP: rs199472720
rs199472720
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Novel insight into the natural history of short QT syndrome. 24291113 2014
dbSNP: rs199472720
rs199472720
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. 23158531 2012
dbSNP: rs199472720
rs199472720
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome. 21350584 2011
dbSNP: rs199472720
rs199472720
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 16922724 2006
dbSNP: rs199472720
rs199472720
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		A 0.700 CausalMutation CLINVAR Hypokalemia-induced long QT syndrome with an underlying novel missense mutation in S4-S5 linker of KCNQ1. 11021476 2000