rs228406

Orientation

plus

Stabilized

plus

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

Make rs228406(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

32485077

Gene

DMD

is a	snp
is	mentioned by
dbSNP	rs228406
dbSNP (classic)	rs228406
ClinGen	rs228406
ebi	rs228406
HLI	rs228406
Exac	rs228406
Gnomad	rs228406
Varsome	rs228406
LitVar	rs228406
Map	rs228406
PheGenI	rs228406
Biobank	rs228406
1000 genomes	rs228406
hgdp	rs228406
ensembl	rs228406
geneview	rs228406
scholar	rs228406
google	rs228406
pharmgkb	rs228406
gwascentral	rs228406
openSNP	rs228406
23andMe	rs228406
SNPshot	rs228406
SNPdbe	rs228406
MSV3d	rs228406
GWAS Ctlg	rs228406

GMAF

0.2703

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

[PMID 18339804] X-inactivation in female human embryonic stem cells is in a nonrandom pattern and prone to epigenetic alterations.

ClinVar
Risk	Rs228406(C;C)
Alt	Rs228406(C;C)
Reference	Rs228406(T;T)
Significance	Non-pathogenic
Disease	not specified Duchenne muscular dystrophy
Variation	info
Gene	DMD
CLNDBN	not specified Duchenne muscular dystrophy
Reversed	0
HGVS	NC_000023.10:g.32503194T\x3d; NC_000023.10:g.32503194T>C
CLNSRC	ClinVar GeneDx
CLNACC	RCV000124736.2, RCV000206108.2, RCV000152984.3,