rs587783847

Orientation

plus

Stabilized

plus

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

Make rs587783847(C;T)

Make rs587783847(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150641404

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783847
dbSNP (classic)	rs587783847
ClinGen	rs587783847
ebi	rs587783847
HLI	rs587783847
Exac	rs587783847
Gnomad	rs587783847
Varsome	rs587783847
LitVar	rs587783847
Map	rs587783847
PheGenI	rs587783847
Biobank	rs587783847
1000 genomes	rs587783847
hgdp	rs587783847
ensembl	rs587783847
geneview	rs587783847
scholar	rs587783847
google	rs587783847
pharmgkb	rs587783847
gwascentral	rs587783847
openSNP	rs587783847
23andMe	rs587783847
SNPshot	rs587783847
SNPdbe	rs587783847
MSV3d	rs587783847
GWAS Ctlg	rs587783847

Max Magnitude

0

ClinVar
Risk	rs587783847(T;T)
Alt	rs587783847(T;T)
Reference	Rs587783847(C;C)
Significance	Pathogenic
Disease	Severe X-linked myotubular myopathy
Variation	info
Gene	MTM1
CLNDBN	Severe X-linked myotubular myopathy
Reversed	0
HGVS	NC_000023.10:g.149809877C>T
CLNSRC
CLNACC	RCV000146473.1,