Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933092
rs28933092
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.700 CausalMutation CLINVAR Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies. 18606848

2008
dbSNP: rs28933092
rs28933092
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.700 CausalMutation CLINVAR Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. 11561226

2001
dbSNP: rs28933092
rs28933092
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.700 CausalMutation CLINVAR Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. 11792809

2001
dbSNP: rs28933092
rs28933092
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.700 CausalMutation CLINVAR Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. 10580070

1999