Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555144459
rs1555144459
PKP2
CA 0.700 GeneticVariation CLINVAR Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations. 22781308

2012
dbSNP: rs1555144459
rs1555144459
PKP2
CA 0.700 GeneticVariation CLINVAR Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. 16549640

2006
dbSNP: rs1555144459
rs1555144459
PKP2
CA 0.700 GeneticVariation CLINVAR Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. 15489853

2004