rs398123270

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AG;AG)	0	common in clinvar
(GA;GA)	0	common in clinvar

Make rs398123270(-;-)

Make rs398123270(-;GA)

Reference

GRCh38 38.1/141

Chromosome

X

Position

150598597

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs398123270
dbSNP (classic)	rs398123270
ClinGen	rs398123270
ebi	rs398123270
HLI	rs398123270
Exac	rs398123270
Gnomad	rs398123270
Varsome	rs398123270
LitVar	rs398123270
Map	rs398123270
PheGenI	rs398123270
Biobank	rs398123270
1000 genomes	rs398123270
hgdp	rs398123270
ensembl	rs398123270
geneview	rs398123270
scholar	rs398123270
google	rs398123270
pharmgkb	rs398123270
gwascentral	rs398123270
openSNP	rs398123270
23andMe	rs398123270
SNPshot	rs398123270
SNPdbe	rs398123270
MSV3d	rs398123270
GWAS Ctlg	rs398123270

Max Magnitude

0

ClinVar
Risk	rs398123270(-;-)
Alt	rs398123270(-;-)
Reference	Rs398123270(AG;AG)
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.149767061_149767062delGA
CLNSRC	ClinVar
CLNACC	RCV000078432.4, RCV000311673.1,