Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.770 CausalMutation CLINVAR Partial restoration of the long QT syndrome associated KCNQ1 A341V mutant by the KCNE1 β-subunit. 21854832

2011
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.770 CausalMutation CLINVAR In a South African (SA) founder population, we identified a common LQTS type 1 (LQT1)-causing mutation (KCNQ1-A341V) associated with high clinical severity. 17984373

2007
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.770 CausalMutation CLINVAR Phenotype reveals genotype in a Greek long QT syndrome family. 16627448

2006
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.770 CausalMutation CLINVAR Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. 16246960

2005
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.770 CausalMutation CLINVAR Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome. 15028050

2004
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.770 CausalMutation CLINVAR Functional effects of mutations in KvLQT1 that cause long QT syndrome. 10376919

1999
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.770 CausalMutation CLINVAR C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. 10086971

1999
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		A 0.770 CausalMutation CLINVAR Functional effects of mutations in KvLQT1 that cause long QT syndrome. 10376919

1999
dbSNP: rs12720459
rs12720459
KCNQ1
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		T 0.770 CausalMutation CLINVAR Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 8528244

1996