Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557182214
rs1557182214
EMD
T 0.700 CausalMutation CLINVAR SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. 8595433

1995
dbSNP: rs1557182301
rs1557182301
EMD
AG 0.700 CausalMutation CLINVAR

dbSNP: rs1557182364
rs1557182364
EMD
GAT 0.700 CausalMutation CLINVAR

dbSNP: rs1557182560
rs1557182560
EMD
T 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: rs1557182560
rs1557182560
EMD
T 0.700 CausalMutation CLINVAR Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. 8589715

1996
dbSNP: rs1557182560
rs1557182560
EMD
T 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs1557182611
rs1557182611
EMD
T 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: rs1557182611
rs1557182611
EMD
T 0.700 CausalMutation CLINVAR Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. 8589715

1996
dbSNP: rs1557182654
rs1557182654
EMD
T 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: rs1557182654
rs1557182654
EMD
T 0.700 CausalMutation CLINVAR Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. 8589715

1996
dbSNP: rs1557182661
rs1557182661
EMD
A 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: rs1557182661
rs1557182661
EMD
A 0.700 CausalMutation CLINVAR Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. 8589715

1996
dbSNP: rs1557182661
rs1557182661
EMD
A 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: 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
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: rs1557182692
rs1557182692
EMD
C 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: rs1569552079
rs1569552079
EMD
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1569552106
rs1569552106
EMD
A 0.700 CausalMutation CLINVAR

dbSNP: rs267606908
rs267606908
MYH7
C 0.700 CausalMutation CLINVAR

dbSNP: rs3218713
rs3218713
MYH7
T 0.700 CausalMutation CLINVAR

dbSNP: rs3218714
rs3218714
MYH7
A 0.700 CausalMutation CLINVAR

dbSNP: rs3218716
rs3218716
MYH7
T 0.700 CausalMutation CLINVAR

dbSNP: rs371898076
rs371898076
MYH7
T 0.700 CausalMutation CLINVAR Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. 10750581

1999