rs587783801

Orientation

plus

Stabilized

plus

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

Make rs587783801(C;C)

Make rs587783801(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150663460

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783801
dbSNP (classic)	rs587783801
ClinGen	rs587783801
ebi	rs587783801
HLI	rs587783801
Exac	rs587783801
Gnomad	rs587783801
Varsome	rs587783801
LitVar	rs587783801
Map	rs587783801
PheGenI	rs587783801
Biobank	rs587783801
1000 genomes	rs587783801
hgdp	rs587783801
ensembl	rs587783801
geneview	rs587783801
scholar	rs587783801
google	rs587783801
pharmgkb	rs587783801
gwascentral	rs587783801
openSNP	rs587783801
23andMe	rs587783801
SNPshot	rs587783801
SNPdbe	rs587783801
MSV3d	rs587783801
GWAS Ctlg	rs587783801

Max Magnitude

0

ClinVar
Risk	rs587783801(C;C)
Alt	rs587783801(C;C)
Reference	Rs587783801(T;T)
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.149831933T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000146425.1,