Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1167115018
rs1167115018
0.010 GeneticVariation BEFREE The population also contain individuals with the Swedish long QT syndrome (LQTS1) founder mutation (<i>KCNQ1</i>/p.Y111C) which in homozygotes causes the Jervell & Lange Nielsen syndrome (JLNS) and hearing loss (HL).Aims of the study were to test whether the Swedish long QT founder mutation originated in an ancestral HFE family and if carriers had an increased risk for hemochromatosis (HH), a treatable disorder. 29270100

2017