Variant: rs199473365 

    present in Gene: KCNE2;LOC105372791
    present in Chromosome: 21
    Position on Chromosome: 34370708
    Alleles of this Variant: G/A

rs199473365 in KCNE2;LOC105372791 gene and Long Qt Syndrome 6 PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 16922724 2006 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

PMID 12185453 2002 Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics.

PMID 10219239 1999 MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.