rs587783864

Orientation

plus

Stabilized

plus

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

Make rs587783864(-;-)

Make rs587783864(-;TT)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150649809

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783864
dbSNP (classic)	rs587783864
ClinGen	rs587783864
ebi	rs587783864
HLI	rs587783864
Exac	rs587783864
Gnomad	rs587783864
Varsome	rs587783864
LitVar	rs587783864
Map	rs587783864
PheGenI	rs587783864
Biobank	rs587783864
1000 genomes	rs587783864
hgdp	rs587783864
ensembl	rs587783864
geneview	rs587783864
scholar	rs587783864
google	rs587783864
pharmgkb	rs587783864
gwascentral	rs587783864
openSNP	rs587783864
23andMe	rs587783864
SNPshot	rs587783864
SNPdbe	rs587783864
MSV3d	rs587783864
GWAS Ctlg	rs587783864

Max Magnitude

0

ClinVar
Risk	rs587783864(-;-)
Alt	rs587783864(-;-)
Reference	Rs587783864(TT;TT)
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.149818282_149818283delTT
CLNSRC
CLNACC	RCV000146491.1,