rs672601325

Orientation

plus

Stabilized

plus

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

Make rs672601325(-;-)

Make rs672601325(-;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

150641345

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs672601325
dbSNP (classic)	rs672601325
ClinGen	rs672601325
ebi	rs672601325
HLI	rs672601325
Exac	rs672601325
Gnomad	rs672601325
Varsome	rs672601325
LitVar	rs672601325
Map	rs672601325
PheGenI	rs672601325
Biobank	rs672601325
1000 genomes	rs672601325
hgdp	rs672601325
ensembl	rs672601325
geneview	rs672601325
scholar	rs672601325
google	rs672601325
pharmgkb	rs672601325
gwascentral	rs672601325
openSNP	rs672601325
23andMe	rs672601325
SNPshot	rs672601325
SNPdbe	rs672601325
MSV3d	rs672601325
GWAS Ctlg	rs672601325

Max Magnitude

0

ClinVar
Risk	rs672601325(-;-)
Alt	rs672601325(-;-)
Reference	Rs672601325(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.149809818delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011810.11,