Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs56793579
rs56793579
G 0.710 CausalMutation CLINVAR On the other hand, affected subjects from three FPLD pedigrees with heterozygous R28W, R60G and R62G LMNA mutations in the amino-terminal had associated cardiomyopathy presenting as premature onset of congestive heart failure, dilated cardiomyopathy and conduction system disturbances. 20041886

2010

dbSNP: rs56793579
rs56793579
G 0.710 CausalMutation CLINVAR Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. 12015247

2002

dbSNP: rs56793579
rs56793579
G 0.710 CausalMutation CLINVAR Post-mortem findings in familial partial lipodystrophy, Dunnigan variety. 12647844

2002

dbSNP: rs869125101
rs869125101
A 0.700 GeneticVariation CLINVAR Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350

2013

dbSNP: rs267607571
rs267607571
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607577
rs267607577
AGCAC 0.700 CausalMutation CLINVAR

dbSNP: rs56816490
rs56816490
A 0.700 GeneticVariation CLINVAR

dbSNP: rs59301204
rs59301204
A 0.700 GeneticVariation CLINVAR