Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033559
rs111033559
0.800 GeneticVariation UNIPROT Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. 22427649

2012

dbSNP: rs111033559
rs111033559
0.800 GeneticVariation UNIPROT Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. 22707725

2012

dbSNP: rs111033559
rs111033559
0.800 GeneticVariation UNIPROT Mutations in the human phospholamban gene in patients with heart failure. 22137083

2011

dbSNP: rs111033559
rs111033559
0.800 GeneticVariation UNIPROT A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. 16432188

2006

dbSNP: rs111033559
rs111033559
0.800 GeneticVariation UNIPROT Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. 12610310

2003

dbSNP: rs111033559
rs111033559
T 0.800 CausalMutation CLINVAR