Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58932704
rs58932704
LMNA
T 0.700 CausalMutation CLINVAR Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement. 21173262

2011
dbSNP: rs58932704
rs58932704
LMNA
T 0.700 CausalMutation CLINVAR Bayesian latent class models with conditionally dependent diagnostic tests: a case study. 18551515

2008
dbSNP: rs58932704
rs58932704
LMNA
T 0.700 CausalMutation CLINVAR Expression of the myodystrophic R453W mutation of lamin A in C2C12 myoblasts causes promoter-specific and global epigenetic defects. 18396274

2008
dbSNP: rs58932704
rs58932704
LMNA
T 0.700 CausalMutation CLINVAR Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts. 14749366

2004
dbSNP: rs58932704
rs58932704
LMNA
T 0.700 CausalMutation CLINVAR Contact sensitivity to phenylbutazone (Butazolidine) cream. 1839274

1991