rs797045712

Orientation

plus

Stabilized

plus

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

Make rs797045712(-;-)

Make rs797045712(-;A)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

150659686

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs797045712
dbSNP (classic)	rs797045712
ClinGen	rs797045712
ebi	rs797045712
HLI	rs797045712
Exac	rs797045712
Gnomad	rs797045712
Varsome	rs797045712
LitVar	rs797045712
Map	rs797045712
PheGenI	rs797045712
Biobank	rs797045712
1000 genomes	rs797045712
hgdp	rs797045712
ensembl	rs797045712
geneview	rs797045712
scholar	rs797045712
google	rs797045712
pharmgkb	rs797045712
gwascentral	rs797045712
openSNP	rs797045712
23andMe	rs797045712
SNPshot	rs797045712
SNPdbe	rs797045712
MSV3d	rs797045712
GWAS Ctlg	rs797045712

Max Magnitude

0

ClinVar
Risk	rs797045712(-;-)
Alt	rs797045712(-;-)
Reference	Rs797045712(A;A)
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.149828159delA
CLNSRC
CLNACC	RCV000192715.1,