Disease: Congenital long QT syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397508118
rs397508118
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		G 0.700 CausalMutation CLINVAR Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome. 24666684 2015
dbSNP: rs397508118
rs397508118
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		G 0.700 CausalMutation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430 2013
dbSNP: rs397508118
rs397508118
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		G 0.700 CausalMutation CLINVAR Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden. 22539601 2012
dbSNP: rs397508118
rs397508118
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		G 0.700 CausalMutation CLINVAR A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. 11530100 2001
dbSNP: rs397508118
rs397508118
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		G 0.700 CausalMutation CLINVAR Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome. 10560595 1999
dbSNP: rs397508118
rs397508118
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C1141890
Disease:
Congenital long QT syndrome 		G 0.700 CausalMutation CLINVAR Jervell and Lange-Nielsen syndrome: a Norwegian perspective. 10704188 1999