Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472776
rs199472776
KCNQ1
T 0.710 GeneticVariation CLINVAR Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. 26159999

2015
dbSNP: rs199472776
rs199472776
KCNQ1
0.710 GeneticVariation BEFREE Both KV7.1-A283T (16-week male) and KV7.1-R397W (16-week female) mutations were associated with marked KV7.1 loss-of-function consistent with in utero LQTS type 1, whereas the HERG1b-R25W mutation (33.2-week male) exhibited a loss of function consistent with in utero LQTS type 2. 23571586

2013
dbSNP: rs199472776
rs199472776
KCNQ1
T 0.710 GeneticVariation CLINVAR Both KV7.1-A283T (16-week male) and KV7.1-R397W (16-week female) mutations were associated with marked KV7.1 loss-of-function consistent with in utero LQTS type 1, whereas the HERG1b-R25W mutation (33.2-week male) exhibited a loss of function consistent with in utero LQTS type 2. 23571586

2013
dbSNP: rs199472776
rs199472776
KCNQ1
T 0.710 GeneticVariation CLINVAR Intracellular ATP binding is required to activate the slowly activating K+ channel I(Ks). 24190995

2013
dbSNP: rs199472776
rs199472776
KCNQ1
T 0.710 GeneticVariation CLINVAR Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner. 22199116

2012
dbSNP: rs199472776
rs199472776
KCNQ1
T 0.710 GeneticVariation CLINVAR Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. 22949429

2012
dbSNP: rs199472776
rs199472776
KCNQ1
T 0.710 GeneticVariation CLINVAR Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. 21185501

2011
dbSNP: rs199472776
rs199472776
KCNQ1
T 0.710 GeneticVariation 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: rs199472776
rs199472776
KCNQ1
T 0.710 GeneticVariation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

2009
dbSNP: rs199472776
rs199472776
KCNQ1
T 0.710 GeneticVariation CLINVAR Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. 17470695

2007