rs587783860

Orientation

plus

Stabilized

plus

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

Make rs587783860(-;-)

Make rs587783860(-;C)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150649760

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783860
dbSNP (classic)	rs587783860
ClinGen	rs587783860
ebi	rs587783860
HLI	rs587783860
Exac	rs587783860
Gnomad	rs587783860
Varsome	rs587783860
LitVar	rs587783860
Map	rs587783860
PheGenI	rs587783860
Biobank	rs587783860
1000 genomes	rs587783860
hgdp	rs587783860
ensembl	rs587783860
geneview	rs587783860
scholar	rs587783860
google	rs587783860
pharmgkb	rs587783860
gwascentral	rs587783860
openSNP	rs587783860
23andMe	rs587783860
SNPshot	rs587783860
SNPdbe	rs587783860
MSV3d	rs587783860
GWAS Ctlg	rs587783860

Max Magnitude

0

ClinVar
Risk	rs587783860(-;-)
Alt	rs587783860(-;-)
Reference	Rs587783860(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.149818233delC
CLNSRC
CLNACC	RCV000146487.1,