rs587783859

Orientation

plus

Stabilized

plus

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

Make rs587783859(-;-)

Make rs587783859(-;AA)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150649736

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783859
dbSNP (classic)	rs587783859
ClinGen	rs587783859
ebi	rs587783859
HLI	rs587783859
Exac	rs587783859
Gnomad	rs587783859
Varsome	rs587783859
LitVar	rs587783859
Map	rs587783859
PheGenI	rs587783859
Biobank	rs587783859
1000 genomes	rs587783859
hgdp	rs587783859
ensembl	rs587783859
geneview	rs587783859
scholar	rs587783859
google	rs587783859
pharmgkb	rs587783859
gwascentral	rs587783859
openSNP	rs587783859
23andMe	rs587783859
SNPshot	rs587783859
SNPdbe	rs587783859
MSV3d	rs587783859
GWAS Ctlg	rs587783859

Max Magnitude

0

ClinVar
Risk	rs587783859(-;-)
Alt	rs587783859(-;-)
Reference	Rs587783859(AA;AA)
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.149818209_149818210delAA
CLNSRC
CLNACC	RCV000146486.1,