Source: CLINVAR ×
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 Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. 23785128

2013

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

dbSNP: rs111033559
rs111033559
T 0.700 CausalMutation CLINVAR

dbSNP: rs111033560
rs111033560
G 0.700 GeneticVariation CLINVAR