rs587783789

Orientation

plus

Stabilized

plus

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

Make rs587783789(A;G)

Make rs587783789(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150660423

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783789
dbSNP (classic)	rs587783789
ClinGen	rs587783789
ebi	rs587783789
HLI	rs587783789
Exac	rs587783789
Gnomad	rs587783789
Varsome	rs587783789
LitVar	rs587783789
Map	rs587783789
PheGenI	rs587783789
Biobank	rs587783789
1000 genomes	rs587783789
hgdp	rs587783789
ensembl	rs587783789
geneview	rs587783789
scholar	rs587783789
google	rs587783789
pharmgkb	rs587783789
gwascentral	rs587783789
openSNP	rs587783789
23andMe	rs587783789
SNPshot	rs587783789
SNPdbe	rs587783789
MSV3d	rs587783789
GWAS Ctlg	rs587783789

Max Magnitude

0

ClinVar
Risk	rs587783789(G;G)
Alt	rs587783789(G;G)
Reference	Rs587783789(A;A)
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.149828896A>G
CLNSRC
CLNACC	RCV000146411.1,