rs587783836

Orientation

plus

Stabilized

plus

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

Make rs587783836(C;T)

Make rs587783836(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150641297

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs587783836
dbSNP (classic)	rs587783836
ClinGen	rs587783836
ebi	rs587783836
HLI	rs587783836
Exac	rs587783836
Gnomad	rs587783836
Varsome	rs587783836
LitVar	rs587783836
Map	rs587783836
PheGenI	rs587783836
Biobank	rs587783836
1000 genomes	rs587783836
hgdp	rs587783836
ensembl	rs587783836
geneview	rs587783836
scholar	rs587783836
google	rs587783836
pharmgkb	rs587783836
gwascentral	rs587783836
openSNP	rs587783836
23andMe	rs587783836
SNPshot	rs587783836
SNPdbe	rs587783836
MSV3d	rs587783836
GWAS Ctlg	rs587783836

Max Magnitude

0

ClinVar
Risk	rs587783836(T;T)
Alt	rs587783836(T;T)
Reference	Rs587783836(C;C)
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.149809770C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000146461.1,