Variant: rs397516706 

    present in Gene: DSG2-AS1;DSG2
    present in Chromosome: 18
    Position on Chromosome: 31546441
    Alleles of this Variant: AGAG/-;AG

rs397516706 in DSG2-AS1;DSG2 gene and Cardiomyopathy, Dilated PMID 21397041 2011 Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.

PMID 20864495 2010 Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.

PMID 23381804 2013 Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.