rs797045714

Orientation

plus

Stabilized

plus

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

Make rs797045714(-;A)

Make rs797045714(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

150596564

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs797045714
dbSNP (classic)	rs797045714
ClinGen	rs797045714
ebi	rs797045714
HLI	rs797045714
Exac	rs797045714
Gnomad	rs797045714
Varsome	rs797045714
LitVar	rs797045714
Map	rs797045714
PheGenI	rs797045714
Biobank	rs797045714
1000 genomes	rs797045714
hgdp	rs797045714
ensembl	rs797045714
geneview	rs797045714
scholar	rs797045714
google	rs797045714
pharmgkb	rs797045714
gwascentral	rs797045714
openSNP	rs797045714
23andMe	rs797045714
SNPshot	rs797045714
SNPdbe	rs797045714
MSV3d	rs797045714
GWAS Ctlg	rs797045714

Max Magnitude

0

ClinVar
Risk	rs797045714(A;A)
Alt	rs797045714(A;A)
Reference	Rs797045714(-;-)
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.149765028dupA
CLNSRC
CLNACC	RCV000194745.1,