rs587783765

Orientation

plus

Stabilized

plus

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

Make rs587783765(A;G)

Make rs587783765(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150658001

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783765
dbSNP (classic)	rs587783765
ClinGen	rs587783765
ebi	rs587783765
HLI	rs587783765
Exac	rs587783765
Gnomad	rs587783765
Varsome	rs587783765
LitVar	rs587783765
Map	rs587783765
PheGenI	rs587783765
Biobank	rs587783765
1000 genomes	rs587783765
hgdp	rs587783765
ensembl	rs587783765
geneview	rs587783765
scholar	rs587783765
google	rs587783765
pharmgkb	rs587783765
gwascentral	rs587783765
openSNP	rs587783765
23andMe	rs587783765
SNPshot	rs587783765
SNPdbe	rs587783765
MSV3d	rs587783765
GWAS Ctlg	rs587783765

Max Magnitude

0

ClinVar
Risk	rs587783765(G;G)
Alt	rs587783765(G;G)
Reference	Rs587783765(A;A)
Significance	Probable-Pathogenic
Disease	Severe X-linked myotubular myopathy
Variation	info
Gene	MTM1
CLNDBN	Severe X-linked myotubular myopathy
Reversed	0
HGVS	NC_000023.10:g.149826474A>G
CLNSRC
CLNACC	RCV000146386.1,