present in Gene: DSG2
present in Chromosome: 18
Position on Chromosome: 31531044
Alleles of this Variant: G/A
rs758537946 in
DSG2 gene and
Cardiomyopathy, Dilated
PMID 21606396 2011 Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study.
PMID 23889974 2013 Mutation-positive arrhythmogenic right ventricular dysplasia/cardiomyopathy: the triangle of dysplasia displaced.