Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746877365
rs746877365
DSP
Cardiomyopathy dilated with Woolly hair and keratoderma
T 0.700 CausalMutation CLINVAR Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. 24070718

2013

dbSNP: rs746877365
rs746877365
DSP
Cardiomyopathy dilated with Woolly hair and keratoderma
T 0.700 CausalMutation CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751

2010

dbSNP: rs746877365
rs746877365
DSP
Cardiomyopathy dilated with Woolly hair and keratoderma
T 0.700 CausalMutation CLINVAR A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. 19279339

2009

dbSNP: rs746877365
rs746877365
DSP
Cardiomyopathy dilated with Woolly hair and keratoderma
T 0.700 CausalMutation CLINVAR Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. 19095136

2008