Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs56793579
rs56793579
LMNA
0.710 GeneticVariation BEFREE 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
LMNA
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
LMNA
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
LMNA
G 0.710 CausalMutation CLINVAR Post-mortem findings in familial partial lipodystrophy, Dunnigan variety. 12647844

2002