Disease: Long QT Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472790
rs199472790
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		G 0.700 GeneticVariation CLINVAR Left cardiac sympathetic denervation in long QT syndrome: analysis of therapeutic nonresponders. 23728945 2013
dbSNP: rs199472790
rs199472790
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		G 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
dbSNP: rs199472790
rs199472790
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		G 0.700 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
dbSNP: rs199472790
rs199472790
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		G 0.700 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476 2005
dbSNP: rs199472790
rs199472790
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		G 0.700 GeneticVariation CLINVAR Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 15466642 2004
dbSNP: rs199472790
rs199472790
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0023976
Disease:
Long QT Syndrome 		G 0.700 GeneticVariation CLINVAR Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. 14678125 2003