rs730880352

Orientation

plus

Stabilized

plus

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

Make rs730880352(-;TGGGC)

Make rs730880352(TGGGC;TGGGC)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

154381086

Gene

EMD

is a	snp
is	mentioned by
dbSNP	rs730880352
dbSNP (classic)	rs730880352
ClinGen	rs730880352
ebi	rs730880352
HLI	rs730880352
Exac	rs730880352
Gnomad	rs730880352
Varsome	rs730880352
LitVar	rs730880352
Map	rs730880352
PheGenI	rs730880352
Biobank	rs730880352
1000 genomes	rs730880352
hgdp	rs730880352
ensembl	rs730880352
geneview	rs730880352
scholar	rs730880352
google	rs730880352
pharmgkb	rs730880352
gwascentral	rs730880352
openSNP	rs730880352
23andMe	rs730880352
SNPshot	rs730880352
SNPdbe	rs730880352
MSV3d	rs730880352
GWAS Ctlg	rs730880352

Max Magnitude

0

ClinVar
Risk	rs730880352(GGGCT;GGGCT)
Alt	rs730880352(GGGCT;GGGCT)
Reference	Rs730880352(-;-)
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.153609442_153609446dupTGGGC
CLNSRC
CLNACC	RCV000155918.1,