rs267606782

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Carrier of an Emery-Dreifuss Muscular Dystrophy mutation
(G;G)	6.4	Emery-Dreifuss Muscular Dystrophy

Reference

GRCh38 38.1/141

Chromosome

X

Position

154379485

Gene

EMD

is a	snp
is	mentioned by
dbSNP	rs267606782
dbSNP (classic)	rs267606782
ClinGen	rs267606782
ebi	rs267606782
HLI	rs267606782
Exac	rs267606782
Gnomad	rs267606782
Varsome	rs267606782
LitVar	rs267606782
Map	rs267606782
PheGenI	rs267606782
Biobank	rs267606782
1000 genomes	rs267606782
hgdp	rs267606782
ensembl	rs267606782
geneview	rs267606782
scholar	rs267606782
google	rs267606782
pharmgkb	rs267606782
gwascentral	rs267606782
openSNP	rs267606782
23andMe	rs267606782
SNPshot	rs267606782
SNPdbe	rs267606782
MSV3d	rs267606782
GWAS Ctlg	rs267606782

Max Magnitude

6.4

ClinVar
Risk	Rs267606782(G;G)
Alt	Rs267606782(G;G)
Reference	Rs267606782(A;A)
Significance	Pathogenic
Disease	Emery-Dreifuss muscular dystrophy not provided
Variation	info
Gene	EMD
CLNDBN	Emery-Dreifuss muscular dystrophy, X-linked not provided
Reversed	0
HGVS	NC_000023.10:g.153607845A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011922.6, RCV000254894.1,