rs587783772

Orientation

plus

Stabilized

plus

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

Make rs587783772(A;A)

Make rs587783772(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150659665

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783772
dbSNP (classic)	rs587783772
ClinGen	rs587783772
ebi	rs587783772
HLI	rs587783772
Exac	rs587783772
Gnomad	rs587783772
Varsome	rs587783772
LitVar	rs587783772
Map	rs587783772
PheGenI	rs587783772
Biobank	rs587783772
1000 genomes	rs587783772
hgdp	rs587783772
ensembl	rs587783772
geneview	rs587783772
scholar	rs587783772
google	rs587783772
pharmgkb	rs587783772
gwascentral	rs587783772
openSNP	rs587783772
23andMe	rs587783772
SNPshot	rs587783772
SNPdbe	rs587783772
MSV3d	rs587783772
GWAS Ctlg	rs587783772

Max Magnitude

0

ClinVar
Risk	rs587783772(A;A)
Alt	rs587783772(A;A)
Reference	Rs587783772(G;G)
Significance	Pathogenic
Disease	Severe X-linked myotubular myopathy not provided
Variation	info
Gene	MTM1
CLNDBN	Severe X-linked myotubular myopathy not provided
Reversed	0
HGVS	NC_000023.10:g.149828138G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000146393.1, RCV000428593.1,