Variant: rs1375081885 

    present in Gene: DSG2-AS1;DSG2
    present in Chromosome: 18
    Position on Chromosome: 31545914
    Alleles of this Variant: A/-

rs1375081885 in DSG2-AS1;DSG2 gene and Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 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.

PMID 21397041 2011 Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy.