rs727504901

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

154379688

Gene

EMD

is a	snp
is	mentioned by
dbSNP	rs727504901
dbSNP (classic)	rs727504901
ClinGen	rs727504901
ebi	rs727504901
HLI	rs727504901
Exac	rs727504901
Gnomad	rs727504901
Varsome	rs727504901
LitVar	rs727504901
Map	rs727504901
PheGenI	rs727504901
Biobank	rs727504901
1000 genomes	rs727504901
hgdp	rs727504901
ensembl	rs727504901
geneview	rs727504901
scholar	rs727504901
google	rs727504901
pharmgkb	rs727504901
gwascentral	rs727504901
openSNP	rs727504901
23andMe	rs727504901
SNPshot	rs727504901
SNPdbe	rs727504901
MSV3d	rs727504901
GWAS Ctlg	rs727504901

Max Magnitude

6.4

ClinVar
Risk	Rs727504901(G;G)
Alt	Rs727504901(G;G)
Reference	Rs727504901(A;A)
Significance	Probable-Pathogenic
Disease	Emery-Dreifuss muscular dystrophy
Variation	info
Gene	EMD
CLNDBN	Emery-Dreifuss muscular dystrophy, X-linked
Reversed	0
HGVS	NC_000023.10:g.153608048A>G
CLNSRC
CLNACC	RCV000156286.1,