rs587783778

Orientation

plus

Stabilized

plus

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

Make rs587783778(A;A)

Make rs587783778(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150659740

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783778
dbSNP (classic)	rs587783778
ClinGen	rs587783778
ebi	rs587783778
HLI	rs587783778
Exac	rs587783778
Gnomad	rs587783778
Varsome	rs587783778
LitVar	rs587783778
Map	rs587783778
PheGenI	rs587783778
Biobank	rs587783778
1000 genomes	rs587783778
hgdp	rs587783778
ensembl	rs587783778
geneview	rs587783778
scholar	rs587783778
google	rs587783778
pharmgkb	rs587783778
gwascentral	rs587783778
openSNP	rs587783778
23andMe	rs587783778
SNPshot	rs587783778
SNPdbe	rs587783778
MSV3d	rs587783778
GWAS Ctlg	rs587783778

Max Magnitude

0

ClinVar
Risk	rs587783778(A;A)
Alt	rs587783778(A;A)
Reference	Rs587783778(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.149828213G>A
CLNSRC
CLNACC	RCV000146399.1,