rs587783808

Orientation

plus

Stabilized

plus

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

Make rs587783808(-;-)

Make rs587783808(-;C)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150671575

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783808
dbSNP (classic)	rs587783808
ClinGen	rs587783808
ebi	rs587783808
HLI	rs587783808
Exac	rs587783808
Gnomad	rs587783808
Varsome	rs587783808
LitVar	rs587783808
Map	rs587783808
PheGenI	rs587783808
Biobank	rs587783808
1000 genomes	rs587783808
hgdp	rs587783808
ensembl	rs587783808
geneview	rs587783808
scholar	rs587783808
google	rs587783808
pharmgkb	rs587783808
gwascentral	rs587783808
openSNP	rs587783808
23andMe	rs587783808
SNPshot	rs587783808
SNPdbe	rs587783808
MSV3d	rs587783808
GWAS Ctlg	rs587783808

Max Magnitude

0

ClinVar
Risk	rs587783808(-;-)
Alt	rs587783808(-;-)
Reference	Rs587783808(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.149840048delC
CLNSRC
CLNACC	RCV000146432.1,