rs797045721

Orientation

plus

Stabilized

plus

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

Make rs797045721(-;GG)

Make rs797045721(GG;GG)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

150645872

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs797045721
dbSNP (classic)	rs797045721
ClinGen	rs797045721
ebi	rs797045721
HLI	rs797045721
Exac	rs797045721
Gnomad	rs797045721
Varsome	rs797045721
LitVar	rs797045721
Map	rs797045721
PheGenI	rs797045721
Biobank	rs797045721
1000 genomes	rs797045721
hgdp	rs797045721
ensembl	rs797045721
geneview	rs797045721
scholar	rs797045721
google	rs797045721
pharmgkb	rs797045721
gwascentral	rs797045721
openSNP	rs797045721
23andMe	rs797045721
SNPshot	rs797045721
SNPdbe	rs797045721
MSV3d	rs797045721
GWAS Ctlg	rs797045721

Max Magnitude

0

ClinVar
Risk	rs797045721(GG;GG)
Alt	rs797045721(GG;GG)
Reference	Rs797045721(-;-)
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.149814344_149814345dupGG
CLNSRC
CLNACC	RCV000194416.1,