rs587783755

Orientation

plus

Stabilized

plus

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

Make rs587783755(A;A)

Make rs587783755(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150657899

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783755
dbSNP (classic)	rs587783755
ClinGen	rs587783755
ebi	rs587783755
HLI	rs587783755
Exac	rs587783755
Gnomad	rs587783755
Varsome	rs587783755
LitVar	rs587783755
Map	rs587783755
PheGenI	rs587783755
Biobank	rs587783755
1000 genomes	rs587783755
hgdp	rs587783755
ensembl	rs587783755
geneview	rs587783755
scholar	rs587783755
google	rs587783755
pharmgkb	rs587783755
gwascentral	rs587783755
openSNP	rs587783755
23andMe	rs587783755
SNPshot	rs587783755
SNPdbe	rs587783755
MSV3d	rs587783755
GWAS Ctlg	rs587783755

Max Magnitude

0

ClinVar
Risk	rs587783755(A;A)
Alt	rs587783755(A;A)
Reference	Rs587783755(G;G)
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.149826372G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000146376.1,