rs587783831

Orientation

plus

Stabilized

plus

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

Make rs587783831(A;G)

Make rs587783831(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150641267

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783831
dbSNP (classic)	rs587783831
ClinGen	rs587783831
ebi	rs587783831
HLI	rs587783831
Exac	rs587783831
Gnomad	rs587783831
Varsome	rs587783831
LitVar	rs587783831
Map	rs587783831
PheGenI	rs587783831
Biobank	rs587783831
1000 genomes	rs587783831
hgdp	rs587783831
ensembl	rs587783831
geneview	rs587783831
scholar	rs587783831
google	rs587783831
pharmgkb	rs587783831
gwascentral	rs587783831
openSNP	rs587783831
23andMe	rs587783831
SNPshot	rs587783831
SNPdbe	rs587783831
MSV3d	rs587783831
GWAS Ctlg	rs587783831

Max Magnitude

0

ClinVar
Risk	rs587783831(G;G)
Alt	rs587783831(G;G)
Reference	Rs587783831(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.149809740A>G
CLNSRC
CLNACC	RCV000146456.1,