rs587783798

Orientation

plus

Stabilized

plus

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

Make rs587783798(A;A)

Make rs587783798(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150660485

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783798
dbSNP (classic)	rs587783798
ClinGen	rs587783798
ebi	rs587783798
HLI	rs587783798
Exac	rs587783798
Gnomad	rs587783798
Varsome	rs587783798
LitVar	rs587783798
Map	rs587783798
PheGenI	rs587783798
Biobank	rs587783798
1000 genomes	rs587783798
hgdp	rs587783798
ensembl	rs587783798
geneview	rs587783798
scholar	rs587783798
google	rs587783798
pharmgkb	rs587783798
gwascentral	rs587783798
openSNP	rs587783798
23andMe	rs587783798
SNPshot	rs587783798
SNPdbe	rs587783798
MSV3d	rs587783798
GWAS Ctlg	rs587783798

Max Magnitude

0

ClinVar
Risk	rs587783798(A;A) rs587783798(T;T)
Alt	rs587783798(A;A) rs587783798(T;T)
Reference	Rs587783798(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.149828958G>A; NC_000023.10:g.149828958G>T
CLNSRC
CLNACC	RCV000146421.1, RCV000146422.1,