rs587783838

Orientation

plus

Stabilized

plus

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

Make rs587783838(A;G)

Make rs587783838(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150641315

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783838
dbSNP (classic)	rs587783838
ClinGen	rs587783838
ebi	rs587783838
HLI	rs587783838
Exac	rs587783838
Gnomad	rs587783838
Varsome	rs587783838
LitVar	rs587783838
Map	rs587783838
PheGenI	rs587783838
Biobank	rs587783838
1000 genomes	rs587783838
hgdp	rs587783838
ensembl	rs587783838
geneview	rs587783838
scholar	rs587783838
google	rs587783838
pharmgkb	rs587783838
gwascentral	rs587783838
openSNP	rs587783838
23andMe	rs587783838
SNPshot	rs587783838
SNPdbe	rs587783838
MSV3d	rs587783838
GWAS Ctlg	rs587783838

Max Magnitude

0

ClinVar
Risk	rs587783838(G;G)
Alt	rs587783838(G;G)
Reference	Rs587783838(A;A)
Significance	Probable-Pathogenic
Disease	Severe X-linked myotubular myopathy
Variation	info
Gene	MTM1
CLNDBN	Severe X-linked myotubular myopathy
Reversed	0
HGVS	NC_000023.10:g.149809788A>G
CLNSRC
CLNACC	RCV000146463.2,