rs587783841

Orientation

plus

Stabilized

plus

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

Make rs587783841(C;T)

Make rs587783841(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150641354

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783841
dbSNP (classic)	rs587783841
ClinGen	rs587783841
ebi	rs587783841
HLI	rs587783841
Exac	rs587783841
Gnomad	rs587783841
Varsome	rs587783841
LitVar	rs587783841
Map	rs587783841
PheGenI	rs587783841
Biobank	rs587783841
1000 genomes	rs587783841
hgdp	rs587783841
ensembl	rs587783841
geneview	rs587783841
scholar	rs587783841
google	rs587783841
pharmgkb	rs587783841
gwascentral	rs587783841
openSNP	rs587783841
23andMe	rs587783841
SNPshot	rs587783841
SNPdbe	rs587783841
MSV3d	rs587783841
GWAS Ctlg	rs587783841

Max Magnitude

0

ClinVar
Risk	rs587783841(T;T)
Alt	rs587783841(T;T)
Reference	Rs587783841(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.149809827C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000146466.1,