rs587783840

Orientation

plus

Stabilized

plus

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

Make rs587783840(G;G)

Make rs587783840(G;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150641351

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783840
dbSNP (classic)	rs587783840
ClinGen	rs587783840
ebi	rs587783840
HLI	rs587783840
Exac	rs587783840
Gnomad	rs587783840
Varsome	rs587783840
LitVar	rs587783840
Map	rs587783840
PheGenI	rs587783840
Biobank	rs587783840
1000 genomes	rs587783840
hgdp	rs587783840
ensembl	rs587783840
geneview	rs587783840
scholar	rs587783840
google	rs587783840
pharmgkb	rs587783840
gwascentral	rs587783840
openSNP	rs587783840
23andMe	rs587783840
SNPshot	rs587783840
SNPdbe	rs587783840
MSV3d	rs587783840
GWAS Ctlg	rs587783840

Max Magnitude

0

ClinVar
Risk	rs587783840(G;G)
Alt	rs587783840(G;G)
Reference	Rs587783840(T;T)
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.149809824T>G
CLNSRC
CLNACC	RCV000146465.1,