rs587783849

Orientation

plus

Stabilized

plus

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

Make rs587783849(A;A)

Make rs587783849(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150641419

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783849
dbSNP (classic)	rs587783849
ClinGen	rs587783849
ebi	rs587783849
HLI	rs587783849
Exac	rs587783849
Gnomad	rs587783849
Varsome	rs587783849
LitVar	rs587783849
Map	rs587783849
PheGenI	rs587783849
Biobank	rs587783849
1000 genomes	rs587783849
hgdp	rs587783849
ensembl	rs587783849
geneview	rs587783849
scholar	rs587783849
google	rs587783849
pharmgkb	rs587783849
gwascentral	rs587783849
openSNP	rs587783849
23andMe	rs587783849
SNPshot	rs587783849
SNPdbe	rs587783849
MSV3d	rs587783849
GWAS Ctlg	rs587783849

Max Magnitude

0

ClinVar
Risk	rs587783849(A;A)
Alt	rs587783849(A;A)
Reference	Rs587783849(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.149809892G>A
CLNSRC
CLNACC	RCV000146475.1,