rs398123275

Orientation

plus

Stabilized

plus

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

Make rs398123275(C;T)

Make rs398123275(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

150596504

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs398123275
dbSNP (classic)	rs398123275
ClinGen	rs398123275
ebi	rs398123275
HLI	rs398123275
Exac	rs398123275
Gnomad	rs398123275
Varsome	rs398123275
LitVar	rs398123275
Map	rs398123275
PheGenI	rs398123275
Biobank	rs398123275
1000 genomes	rs398123275
hgdp	rs398123275
ensembl	rs398123275
geneview	rs398123275
scholar	rs398123275
google	rs398123275
pharmgkb	rs398123275
gwascentral	rs398123275
openSNP	rs398123275
23andMe	rs398123275
SNPshot	rs398123275
SNPdbe	rs398123275
MSV3d	rs398123275
GWAS Ctlg	rs398123275

Max Magnitude

0

ClinVar
Risk	rs398123275(T;T)
Alt	rs398123275(T;T)
Reference	Rs398123275(C;C)
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.149764968C>T
CLNSRC	HGMD
CLNACC	RCV000078437.4, RCV000264401.1,