Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607554
rs267607554
T 0.700 CausalMutation CLINVAR Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation positive subjects. 24058181

2014

dbSNP: rs267607554
rs267607554
T 0.700 CausalMutation CLINVAR The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins. 24001739

2013

dbSNP: rs267607554
rs267607554
T 0.700 CausalMutation CLINVAR MicroRNA expression profiling in patients with lamin A/C-associated muscular dystrophy. 21840938

2011

dbSNP: rs267607554
rs267607554
T 0.700 CausalMutation CLINVAR The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy. 19875404

2009

dbSNP: rs267607554
rs267607554
T 0.700 CausalMutation CLINVAR Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia. 17987279

2008

dbSNP: rs267607554
rs267607554
T 0.700 CausalMutation CLINVAR Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE. 16715312

2006