rs587783854

Orientation

plus

Stabilized

plus

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

Make rs587783854(C;T)

Make rs587783854(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150645761

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783854
dbSNP (classic)	rs587783854
ClinGen	rs587783854
ebi	rs587783854
HLI	rs587783854
Exac	rs587783854
Gnomad	rs587783854
Varsome	rs587783854
LitVar	rs587783854
Map	rs587783854
PheGenI	rs587783854
Biobank	rs587783854
1000 genomes	rs587783854
hgdp	rs587783854
ensembl	rs587783854
geneview	rs587783854
scholar	rs587783854
google	rs587783854
pharmgkb	rs587783854
gwascentral	rs587783854
openSNP	rs587783854
23andMe	rs587783854
SNPshot	rs587783854
SNPdbe	rs587783854
MSV3d	rs587783854
GWAS Ctlg	rs587783854

Max Magnitude

0

ClinVar
Risk	rs587783854(T;T)
Alt	rs587783854(T;T)
Reference	Rs587783854(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.149814234C>T
CLNSRC
CLNACC	RCV000146481.1,