rs104894797

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6.2	Dilated cardiomyopathy
(T;T)	6.2	Dilated cardiomyopathy

Reference

GRCh38 38.1/141

Chromosome

X

Position

31206663

Gene

DMD

is a	snp
is	mentioned by
dbSNP	rs104894797
dbSNP (classic)	rs104894797
ClinGen	rs104894797
ebi	rs104894797
HLI	rs104894797
Exac	rs104894797
Gnomad	rs104894797
Varsome	rs104894797
LitVar	rs104894797
Map	rs104894797
PheGenI	rs104894797
Biobank	rs104894797
1000 genomes	rs104894797
hgdp	rs104894797
ensembl	rs104894797
geneview	rs104894797
scholar	rs104894797
google	rs104894797
pharmgkb	rs104894797
gwascentral	rs104894797
openSNP	rs104894797
23andMe	rs104894797
SNPshot	rs104894797
SNPdbe	rs104894797
MSV3d	rs104894797
GWAS Ctlg	rs104894797

Max Magnitude

6.2

OMIM	300377
Desc
Variant	0076
Related	also

ClinVar
Risk	Rs104894797(T;T)
Alt	Rs104894797(T;T)
Reference	Rs104894797(C;C)
Significance	Pathogenic
Disease	Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy
Variation	info
Gene	DMD
CLNDBN	Duchenne muscular dystrophy Dilated cardiomyopathy 3B Becker muscular dystrophy
Reversed	1
HGVS	NC_000023.10:g.31224780G>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000012033.19, RCV000150055.4, RCV000179664.1,