Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58978449
rs58978449
LMNA
T 0.700 GeneticVariation CLINVAR Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. 11503164

2001
dbSNP: rs58978449
rs58978449
LMNA
T 0.700 GeneticVariation CLINVAR Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene. 10908904

2000
dbSNP: rs58978449
rs58978449
LMNA
T 0.700 GeneticVariation CLINVAR Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. 10939567

2000