rs587783787

Orientation

plus

Stabilized

plus

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

Make rs587783787(C;C)

Make rs587783787(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150660405

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783787
dbSNP (classic)	rs587783787
ClinGen	rs587783787
ebi	rs587783787
HLI	rs587783787
Exac	rs587783787
Gnomad	rs587783787
Varsome	rs587783787
LitVar	rs587783787
Map	rs587783787
PheGenI	rs587783787
Biobank	rs587783787
1000 genomes	rs587783787
hgdp	rs587783787
ensembl	rs587783787
geneview	rs587783787
scholar	rs587783787
google	rs587783787
pharmgkb	rs587783787
gwascentral	rs587783787
openSNP	rs587783787
23andMe	rs587783787
SNPshot	rs587783787
SNPdbe	rs587783787
MSV3d	rs587783787
GWAS Ctlg	rs587783787

Max Magnitude

0

ClinVar
Risk	rs587783787(C;C) rs587783787(G;G)
Alt	rs587783787(C;C) rs587783787(G;G)
Reference	Rs587783787(T;T)
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.149828878T>C; NC_000023.10:g.149828878T>G
CLNSRC
CLNACC	RCV000146408.1, RCV000146409.1,