Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517889
rs397517889
T 0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014

dbSNP: rs397517889
rs397517889
T 0.700 GeneticVariation CLINVAR Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350

2013

dbSNP: rs397517889
rs397517889
T 0.700 GeneticVariation CLINVAR Inflammatory changes in infantile-onset LMNA-associated myopathy. 21632249

2011

dbSNP: rs397517889
rs397517889
T 0.700 GeneticVariation CLINVAR Rare variant mutations identified in pediatric patients with dilated cardiomyopathy. 21483645

2011

dbSNP: rs397517889
rs397517889
T 0.700 GeneticVariation CLINVAR MicroRNA expression profiling in patients with lamin A/C-associated muscular dystrophy. 21840938

2011

dbSNP: rs397517889
rs397517889
T 0.700 GeneticVariation CLINVAR Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. 20576434

2010

dbSNP: rs397517889
rs397517889
T 0.700 GeneticVariation CLINVAR High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. 18035086

2007

dbSNP: rs397517889
rs397517889
T 0.700 GeneticVariation CLINVAR Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 18646565

2007

dbSNP: rs397517889
rs397517889
T 0.700 GeneticVariation CLINVAR Abstracts from the 11th Annual Meeting of the ECCR (European Council for Cardiovascular Research), Nice, France, 29 September-1 October 2006. 16990647

2006

dbSNP: rs397517889
rs397517889
T 0.700 GeneticVariation CLINVAR Primary prevention of sudden death in patients with lamin A/C gene mutations. 16407522

2006

dbSNP: rs397517889
rs397517889
T 0.700 GeneticVariation CLINVAR Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: demand for strategies in the management of presymptomatic lamin A/C mutant carriers. 16386954

2006

dbSNP: rs397517889
rs397517889
T 0.700 GeneticVariation CLINVAR Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. 12920062

2003

dbSNP: rs397517889
rs397517889
T 0.700 GeneticVariation CLINVAR Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B. 12032588

2002

dbSNP: rs397517889
rs397517889
T 0.700 GeneticVariation CLINVAR Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). 10814726

2000