Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557182670
rs1557182670
EMD
C 0.700 CausalMutation CLINVAR High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. 15967842

2005
dbSNP: rs1557182670
rs1557182670
EMD
C 0.700 CausalMutation CLINVAR Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. 9195226

1997
dbSNP: rs1557182670
rs1557182670
EMD
C 0.700 CausalMutation CLINVAR Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. 8589715

1996
dbSNP: rs1557182670
rs1557182670
EMD
C 0.700 CausalMutation CLINVAR Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. 8595407

1995