rs797045724

Orientation

plus

Stabilized

plus

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

Make rs797045724(-;T)

Make rs797045724(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

150596530

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs797045724
dbSNP (classic)	rs797045724
ClinGen	rs797045724
ebi	rs797045724
HLI	rs797045724
Exac	rs797045724
Gnomad	rs797045724
Varsome	rs797045724
LitVar	rs797045724
Map	rs797045724
PheGenI	rs797045724
Biobank	rs797045724
1000 genomes	rs797045724
hgdp	rs797045724
ensembl	rs797045724
geneview	rs797045724
scholar	rs797045724
google	rs797045724
pharmgkb	rs797045724
gwascentral	rs797045724
openSNP	rs797045724
23andMe	rs797045724
SNPshot	rs797045724
SNPdbe	rs797045724
MSV3d	rs797045724
GWAS Ctlg	rs797045724

Max Magnitude

0

ClinVar
Risk	rs797045724(T;T)
Alt	rs797045724(T;T)
Reference	Rs797045724(-;-)
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.149764994dupT
CLNSRC
CLNACC	RCV000194336.1,