Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876661345
rs876661345
EMD
GC 0.700 CausalMutation CLINVAR Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. 21697856

2011
dbSNP: rs876661345
rs876661345
EMD
GC 0.700 CausalMutation CLINVAR Limb-girdle muscular dystrophy due to emerin gene mutations. 17620497

2007