Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503036
rs727503036
EMD
G 0.700 CausalMutation CLINVAR Mutation analysis in Emery-Dreifuss muscular dystrophy. 10428430

1999
dbSNP: rs727503036
rs727503036
EMD
G 0.700 CausalMutation CLINVAR Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. 10382909

1999
dbSNP: rs727503036
rs727503036
EMD
G 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
dbSNP: rs727503036
rs727503036
EMD
G 0.700 CausalMutation CLINVAR Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. 1998333

1991
dbSNP: rs727503036
rs727503036
EMD
G 0.700 CausalMutation CLINVAR Emery-dreifuss humeroperoneal muscular dystrophy: an x-linked myopathy with unusual contractures and bradycardia. 7294729

1981
dbSNP: rs727503036
rs727503036
EMD
G 0.700 CausalMutation CLINVAR Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease. 1178008

1975