rs587783805

Orientation

plus

Stabilized

plus

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

Make rs587783805(C;T)

Make rs587783805(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150663523

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783805
dbSNP (classic)	rs587783805
ClinGen	rs587783805
ebi	rs587783805
HLI	rs587783805
Exac	rs587783805
Gnomad	rs587783805
Varsome	rs587783805
LitVar	rs587783805
Map	rs587783805
PheGenI	rs587783805
Biobank	rs587783805
1000 genomes	rs587783805
hgdp	rs587783805
ensembl	rs587783805
geneview	rs587783805
scholar	rs587783805
google	rs587783805
pharmgkb	rs587783805
gwascentral	rs587783805
openSNP	rs587783805
23andMe	rs587783805
SNPshot	rs587783805
SNPdbe	rs587783805
MSV3d	rs587783805
GWAS Ctlg	rs587783805

Max Magnitude

0

ClinVar
Risk	rs587783805(T;T)
Alt	rs587783805(T;T)
Reference	Rs587783805(C;C)
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.149831996C>T
CLNSRC
CLNACC	RCV000146429.1,