Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516989
rs397516989
PKP2
TA 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516989
rs397516989
PKP2
TA 0.700 CausalMutation CLINVAR The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy. 20197793

2010
dbSNP: rs397516989
rs397516989
PKP2
TA 0.700 CausalMutation CLINVAR Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. 20152563

2010
dbSNP: rs397516989
rs397516989
PKP2
TA 0.700 CausalMutation CLINVAR Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. 20031616

2009
dbSNP: rs397516989
rs397516989
PKP2
TA 0.700 CausalMutation CLINVAR Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. 16567567

2006