rs104894806

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs104894806(A;A)

Make rs104894806(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154380979

Gene

EMD

is a	snp
is	mentioned by
dbSNP	rs104894806
dbSNP (classic)	rs104894806
ClinGen	rs104894806
ebi	rs104894806
HLI	rs104894806
Exac	rs104894806
Gnomad	rs104894806
Varsome	rs104894806
LitVar	rs104894806
Map	rs104894806
PheGenI	rs104894806
Biobank	rs104894806
1000 genomes	rs104894806
hgdp	rs104894806
ensembl	rs104894806
geneview	rs104894806
scholar	rs104894806
google	rs104894806
pharmgkb	rs104894806
gwascentral	rs104894806
openSNP	rs104894806
23andMe	rs104894806
SNPshot	rs104894806
SNPdbe	rs104894806
MSV3d	rs104894806
GWAS Ctlg	rs104894806

Max Magnitude

0

OMIM	300384
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894806(A;A)
Alt	rs104894806(A;A)
Reference	Rs104894806(C;C)
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.153609339C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011929.6,