rs797045723

Orientation

plus

Stabilized

plus

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

Make rs797045723(-;A)

Make rs797045723(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

150649817

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs797045723
dbSNP (classic)	rs797045723
ClinGen	rs797045723
ebi	rs797045723
HLI	rs797045723
Exac	rs797045723
Gnomad	rs797045723
Varsome	rs797045723
LitVar	rs797045723
Map	rs797045723
PheGenI	rs797045723
Biobank	rs797045723
1000 genomes	rs797045723
hgdp	rs797045723
ensembl	rs797045723
geneview	rs797045723
scholar	rs797045723
google	rs797045723
pharmgkb	rs797045723
gwascentral	rs797045723
openSNP	rs797045723
23andMe	rs797045723
SNPshot	rs797045723
SNPdbe	rs797045723
MSV3d	rs797045723
GWAS Ctlg	rs797045723

Max Magnitude

0

ClinVar
Risk	rs797045723(A;A)
Alt	rs797045723(A;A)
Reference	Rs797045723(-;-)
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.149818290dupA
CLNSRC
CLNACC	RCV000193112.1,