Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516706
rs397516706
A 0.700 CausalMutation CLINVAR Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. 20864495

2010

dbSNP: rs397516706
rs397516706
A 0.700 CausalMutation CLINVAR Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy. 21397041

2011

dbSNP: rs397516706
rs397516706
A 0.700 CausalMutation CLINVAR Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy. 23381804

2013