Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504786
rs727504786
PKP2
G 0.700 GeneticVariation CLINVAR Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy. 24967631

2014
dbSNP: rs727504786
rs727504786
PKP2
G 0.700 GeneticVariation CLINVAR TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. 23812740

2013
dbSNP: rs727504786
rs727504786
PKP2
G 0.700 GeneticVariation CLINVAR 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. 21606396

2011
dbSNP: rs727504786
rs727504786
PKP2
G 0.700 GeneticVariation CLINVAR Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. 19863551

2010
dbSNP: rs727504786
rs727504786
PKP2
G 0.700 GeneticVariation CLINVAR Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy. 20857253

2010
dbSNP: rs727504786
rs727504786
PKP2
G 0.700 GeneticVariation CLINVAR Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. 20400443

2010
dbSNP: rs727504786
rs727504786
PKP2
G 0.700 GeneticVariation CLINVAR Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. 20152563

2010
dbSNP: rs727504786
rs727504786
PKP2
G 0.700 GeneticVariation CLINVAR Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study. 19358943

2009
dbSNP: rs727504786
rs727504786
PKP2
G 0.700 GeneticVariation CLINVAR A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. 19279339

2009
dbSNP: rs727504786
rs727504786
PKP2
G 0.700 GeneticVariation CLINVAR Mutations of plakophilin-2 in Chinese with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 19427443

2009
dbSNP: rs727504786
rs727504786
PKP2
G 0.700 GeneticVariation CLINVAR Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa. 19880068

2009
dbSNP: rs727504786
rs727504786
PKP2
G 0.700 GeneticVariation CLINVAR Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 20031617

2009
dbSNP: rs727504786
rs727504786
PKP2
G 0.700 GeneticVariation CLINVAR Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis. 16893920

2006
dbSNP: rs727504786
rs727504786
PKP2
G 0.700 GeneticVariation CLINVAR Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. 16549640

2006
dbSNP: rs727504786
rs727504786
PKP2
G 0.700 GeneticVariation CLINVAR Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. 15489853

2004