rs587783863

Orientation

plus

Stabilized

plus

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

Make rs587783863(C;C)

Make rs587783863(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150649806

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783863
dbSNP (classic)	rs587783863
ClinGen	rs587783863
ebi	rs587783863
HLI	rs587783863
Exac	rs587783863
Gnomad	rs587783863
Varsome	rs587783863
LitVar	rs587783863
Map	rs587783863
PheGenI	rs587783863
Biobank	rs587783863
1000 genomes	rs587783863
hgdp	rs587783863
ensembl	rs587783863
geneview	rs587783863
scholar	rs587783863
google	rs587783863
pharmgkb	rs587783863
gwascentral	rs587783863
openSNP	rs587783863
23andMe	rs587783863
SNPshot	rs587783863
SNPdbe	rs587783863
MSV3d	rs587783863
GWAS Ctlg	rs587783863

Max Magnitude

0

ClinVar
Risk	rs587783863(C;C)
Alt	rs587783863(C;C)
Reference	Rs587783863(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.149818279T>C
CLNSRC
CLNACC	RCV000146490.1,