rs104894805

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

154380980

Gene

EMD

is a	snp
is	mentioned by
dbSNP	rs104894805
dbSNP (classic)	rs104894805
ClinGen	rs104894805
ebi	rs104894805
HLI	rs104894805
Exac	rs104894805
Gnomad	rs104894805
Varsome	rs104894805
LitVar	rs104894805
Map	rs104894805
PheGenI	rs104894805
Biobank	rs104894805
1000 genomes	rs104894805
hgdp	rs104894805
ensembl	rs104894805
geneview	rs104894805
scholar	rs104894805
google	rs104894805
pharmgkb	rs104894805
gwascentral	rs104894805
openSNP	rs104894805
23andMe	rs104894805
SNPshot	rs104894805
SNPdbe	rs104894805
MSV3d	rs104894805
GWAS Ctlg	rs104894805

Max Magnitude

6.4

OMIM	300384
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs104894805(A;A)
Alt	Rs104894805(A;A)
Reference	Rs104894805(C;C)
Significance	Pathogenic
Disease	Emery-Dreifuss muscular dystrophy not specified
Variation	info
Gene	EMD
CLNDBN	Emery-Dreifuss muscular dystrophy, X-linked not specified
Reversed	0
HGVS	NC_000023.10:g.153609340C>A; NC_000023.10:g.153609340C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011928.18, RCV000303060.1,