Variant: rs120074195

present in Gene: KCNQ1 present in Chromosome: 11 Position on Chromosome: 2572984 Alleles of this Variant: G/A;C

rs120074195 in KCNQ1 gene and SHORT QT SYNDROME 2 (disorder) PMID 15159330 2004 Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.