rs587783848

Orientation

plus

Stabilized

plus

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

Make rs587783848(A;A)

Make rs587783848(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150641416

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783848
dbSNP (classic)	rs587783848
ClinGen	rs587783848
ebi	rs587783848
HLI	rs587783848
Exac	rs587783848
Gnomad	rs587783848
Varsome	rs587783848
LitVar	rs587783848
Map	rs587783848
PheGenI	rs587783848
Biobank	rs587783848
1000 genomes	rs587783848
hgdp	rs587783848
ensembl	rs587783848
geneview	rs587783848
scholar	rs587783848
google	rs587783848
pharmgkb	rs587783848
gwascentral	rs587783848
openSNP	rs587783848
23andMe	rs587783848
SNPshot	rs587783848
SNPdbe	rs587783848
MSV3d	rs587783848
GWAS Ctlg	rs587783848

Max Magnitude

0

ClinVar
Risk	rs587783848(A;A)
Alt	rs587783848(A;A)
Reference	Rs587783848(C;C)
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.149809889C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000146474.1,