rs132630262

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154379737

Gene

EMD

is a	snp
is	mentioned by
dbSNP	rs132630262
dbSNP (classic)	rs132630262
ClinGen	rs132630262
ebi	rs132630262
HLI	rs132630262
Exac	rs132630262
Gnomad	rs132630262
Varsome	rs132630262
LitVar	rs132630262
Map	rs132630262
PheGenI	rs132630262
Biobank	rs132630262
1000 genomes	rs132630262
hgdp	rs132630262
ensembl	rs132630262
geneview	rs132630262
scholar	rs132630262
google	rs132630262
pharmgkb	rs132630262
gwascentral	rs132630262
openSNP	rs132630262
23andMe	rs132630262
SNPshot	rs132630262
SNPdbe	rs132630262
MSV3d	rs132630262
GWAS Ctlg	rs132630262

Max Magnitude

6.4

OMIM	300384
Desc
Variant	0006
Related	also

ClinVar
Risk	Rs132630262(T;T)
Alt	Rs132630262(T;T)
Reference	Rs132630262(C;C)
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.153608097C>T
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000011926.3, RCV000078128.4,