rs397508120, KCNQ1

N. diseases: 3
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 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 Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. 12051962 2002