Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472941
rs199472941
T 0.700 CausalMutation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016

dbSNP: rs199472941
rs199472941
T 0.700 CausalMutation CLINVAR Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. 25417810

2014

dbSNP: rs199472941
rs199472941
T 0.700 CausalMutation CLINVAR Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations. 18808722

2008

dbSNP: rs199472941
rs199472941
T 0.700 CausalMutation CLINVAR Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. 11854117

2002

dbSNP: rs199472941
rs199472941
T 0.700 CausalMutation CLINVAR Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations. 11222472

2001

dbSNP: rs199472941
rs199472941
T 0.700 CausalMutation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000