Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074190
rs120074190
KCNQ1
0.800 GeneticVariation UNIPROT Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. 25705178

2015
dbSNP: rs120074190
rs120074190
KCNQ1
0.800 GeneticVariation UNIPROT A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family. 18441444

2008
dbSNP: rs120074190
rs120074190
KCNQ1
0.800 GeneticVariation UNIPROT Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family. 18400097

2008
dbSNP: rs120074190
rs120074190
KCNQ1
0.800 GeneticVariation UNIPROT Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. 10728423

2000
dbSNP: rs120074190
rs120074190
KCNQ1
0.800 GeneticVariation UNIPROT Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias. 10090886

1999
dbSNP: rs120074190
rs120074190
KCNQ1
0.800 GeneticVariation UNIPROT Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome. 9781056

1998
dbSNP: rs120074190
rs120074190
KCNQ1
A 0.800 CausalMutation CLINVAR