Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606782
rs267606782
EMD
0.710 GeneticVariation BEFREE A 46-year-old patient with X-EDMD due to the known splice-site mutation c.449 + 1G>A in the emerin gene experienced palpitations for the first time at the age of 21 years, and a first syncope at the age of 23 years. 25502304

2015
dbSNP: rs267606782
rs267606782
EMD
G 0.710 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: rs267606782
rs267606782
EMD
G 0.710 CausalMutation CLINVAR Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients. 19997654

2009
dbSNP: rs267606782
rs267606782
EMD
G 0.710 CausalMutation CLINVAR Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. 7894480

1994