Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516784
rs397516784
T 0.700 CausalMutation CLINVAR Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy. 23568436

2013

dbSNP: rs397516784
rs397516784
T 0.700 CausalMutation CLINVAR Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. 22707725

2012

dbSNP: rs397516784
rs397516784
T 0.700 CausalMutation CLINVAR The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase. 22155237

2012

dbSNP: rs397516784
rs397516784
T 0.700 CausalMutation CLINVAR Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. 22820313

2012

dbSNP: rs397516784
rs397516784
T 0.700 CausalMutation CLINVAR A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. 16432188

2006