rs587783782

Orientation

plus

Stabilized

plus

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

Make rs587783782(A;A)

Make rs587783782(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150660370

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783782
dbSNP (classic)	rs587783782
ClinGen	rs587783782
ebi	rs587783782
HLI	rs587783782
Exac	rs587783782
Gnomad	rs587783782
Varsome	rs587783782
LitVar	rs587783782
Map	rs587783782
PheGenI	rs587783782
Biobank	rs587783782
1000 genomes	rs587783782
hgdp	rs587783782
ensembl	rs587783782
geneview	rs587783782
scholar	rs587783782
google	rs587783782
pharmgkb	rs587783782
gwascentral	rs587783782
openSNP	rs587783782
23andMe	rs587783782
SNPshot	rs587783782
SNPdbe	rs587783782
MSV3d	rs587783782
GWAS Ctlg	rs587783782

Max Magnitude

0

ClinVar
Risk	rs587783782(A;A)
Alt	rs587783782(A;A)
Reference	Rs587783782(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.149828843G>A
CLNSRC
CLNACC	RCV000146403.1,