rs727503036

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.p2 38.2/144

Chromosome

X

Position

154380232

Gene

EMD

is a	snp
is	mentioned by
dbSNP	rs727503036
dbSNP (classic)	rs727503036
ClinGen	rs727503036
ebi	rs727503036
HLI	rs727503036
Exac	rs727503036
Gnomad	rs727503036
Varsome	rs727503036
LitVar	rs727503036
Map	rs727503036
PheGenI	rs727503036
Biobank	rs727503036
1000 genomes	rs727503036
hgdp	rs727503036
ensembl	rs727503036
geneview	rs727503036
scholar	rs727503036
google	rs727503036
pharmgkb	rs727503036
gwascentral	rs727503036
openSNP	rs727503036
23andMe	rs727503036
SNPshot	rs727503036
SNPdbe	rs727503036
MSV3d	rs727503036
GWAS Ctlg	rs727503036

Max Magnitude

6.4

ClinVar
Risk	Rs727503036(G;G)
Alt	Rs727503036(G;G)
Reference	Rs727503036(A;A)
Significance	Pathogenic
Disease	Emery-Dreifuss muscular dystrophy
Variation	info
Gene	EMD
CLNDBN	Emery-Dreifuss muscular dystrophy, X-linked
Reversed	0
HGVS	NC_000023.10:g.153608592A>G
CLNSRC
CLNACC	RCV000150647.1,