rs12720458, KCNQ1

N. diseases: 20
Disease: Congenital long QT syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 GeneticVariation CLINVAR Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. 27831900 2016
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 GeneticVariation CLINVAR Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. 26546361 2015
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 GeneticVariation CLINVAR Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. 23392653 2013
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 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
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 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
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 GeneticVariation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300 2009
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 GeneticVariation CLINVAR Images in cardiovascular medicine. Himalayan T waves in the congenital long-QT syndrome. 15781747 2005
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
0.700 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476 2005