rs398123264

Orientation

plus

Stabilized

plus

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

Make rs398123264(G;G)

Make rs398123264(G;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

150649888

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs398123264
dbSNP (classic)	rs398123264
ClinGen	rs398123264
ebi	rs398123264
HLI	rs398123264
Exac	rs398123264
Gnomad	rs398123264
Varsome	rs398123264
LitVar	rs398123264
Map	rs398123264
PheGenI	rs398123264
Biobank	rs398123264
1000 genomes	rs398123264
hgdp	rs398123264
ensembl	rs398123264
geneview	rs398123264
scholar	rs398123264
google	rs398123264
pharmgkb	rs398123264
gwascentral	rs398123264
openSNP	rs398123264
23andMe	rs398123264
SNPshot	rs398123264
SNPdbe	rs398123264
MSV3d	rs398123264
GWAS Ctlg	rs398123264

Max Magnitude

0

ClinVar
Risk	rs398123264(G;G)
Alt	rs398123264(G;G)
Reference	Rs398123264(T;T)
Significance	Pathogenic
Disease	not provided Severe X-linked myotubular myopathy
Variation	info
Gene	MTM1
CLNDBN	not provided Severe X-linked myotubular myopathy
Reversed	0
HGVS	NC_000023.10:g.149818361T>G
CLNSRC	ClinVar Emory University
CLNACC	RCV000078425.4, RCV000368501.1,