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: rs397508091
rs397508091
Entrez Id: 3784;10984
Gene Symbol: KCNQ1;KCNQ1OT1
KCNQ1;KCNQ1OT1
CUI: C1141890
Disease:
Congenital long QT syndrome 		T 0.700 GeneticVariation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300 2009
dbSNP: rs397508091
rs397508091
Entrez Id: 3784;10984
Gene Symbol: KCNQ1;KCNQ1OT1
KCNQ1;KCNQ1OT1
CUI: C1141890
Disease:
Congenital long QT syndrome 		T 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