Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794728589
rs794728589
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.700 CausalMutation CLINVAR Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350

2013
dbSNP: rs794728589
rs794728589
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.700 GeneticVariation CLINVAR Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350

2013
dbSNP: rs794728589
rs794728589
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.700 CausalMutation CLINVAR Quantitative expression of the mutated lamin A/C gene in patients with cardiolaminopathy. 23062543

2012
dbSNP: rs794728589
rs794728589
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.700 GeneticVariation CLINVAR Quantitative expression of the mutated lamin A/C gene in patients with cardiolaminopathy. 23062543

2012
dbSNP: rs794728589
rs794728589
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.700 CausalMutation CLINVAR Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. 18585512

2008
dbSNP: rs794728589
rs794728589
LMNA
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		A 0.700 CausalMutation CLINVAR Long-term outcome and risk stratification in dilated cardiolaminopathies. 18926329

2008