Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473394
rs199473394
KCNQ1
A 0.700 CausalMutation CLINVAR Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations. 29532034

2018
dbSNP: rs199473394
rs199473394
KCNQ1
A 0.700 CausalMutation CLINVAR Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia. 28944242

2017
dbSNP: rs199473394
rs199473394
KCNQ1
A 0.700 CausalMutation CLINVAR KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1. 27041150

2016
dbSNP: rs199473394
rs199473394
KCNQ1
A 0.700 CausalMutation CLINVAR Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. 27831900

2016
dbSNP: rs199473394
rs199473394
KCNQ1
A 0.700 CausalMutation CLINVAR Long QT syndrome with mutations in three genes: A rare case. 25935074

2015
dbSNP: rs199473394
rs199473394
KCNQ1
A 0.700 CausalMutation CLINVAR Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. 23392653

2013
dbSNP: rs199473394
rs199473394
KCNQ1
A 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
dbSNP: rs199473394
rs199473394
KCNQ1
A 0.700 CausalMutation CLINVAR Compound mutations: a common cause of severe long-QT syndrome. 15051636

2004
dbSNP: rs199473394
rs199473394
KCNQ1
A 0.700 CausalMutation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000