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 Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. 12051962 2002
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