rs587783773

Orientation

plus

Stabilized

plus

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

Make rs587783773(-;-)

Make rs587783773(-;ACCA)

Make rs587783773(ACCA;ACCA)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150659686

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783773
dbSNP (classic)	rs587783773
ClinGen	rs587783773
ebi	rs587783773
HLI	rs587783773
Exac	rs587783773
Gnomad	rs587783773
Varsome	rs587783773
LitVar	rs587783773
Map	rs587783773
PheGenI	rs587783773
Biobank	rs587783773
1000 genomes	rs587783773
hgdp	rs587783773
ensembl	rs587783773
geneview	rs587783773
scholar	rs587783773
google	rs587783773
pharmgkb	rs587783773
gwascentral	rs587783773
openSNP	rs587783773
23andMe	rs587783773
SNPshot	rs587783773
SNPdbe	rs587783773
MSV3d	rs587783773
GWAS Ctlg	rs587783773

Max Magnitude

0

ClinVar
Risk	rs587783773(-;-)
Alt	rs587783773(-;-)
Reference	Rs587783773(AACC;AACC)
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.149828159_149828162delACCA
CLNSRC
CLNACC	RCV000146394.1,