rs797045713

Orientation

plus

Stabilized

plus

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

Make rs797045713(-;-)

Make rs797045713(-;CTC)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

150659707

Gene

MTM1

is a	snp
is	mentioned by
dbSNP	rs797045713
dbSNP (classic)	rs797045713
ClinGen	rs797045713
ebi	rs797045713
HLI	rs797045713
Exac	rs797045713
Gnomad	rs797045713
Varsome	rs797045713
LitVar	rs797045713
Map	rs797045713
PheGenI	rs797045713
Biobank	rs797045713
1000 genomes	rs797045713
hgdp	rs797045713
ensembl	rs797045713
geneview	rs797045713
scholar	rs797045713
google	rs797045713
pharmgkb	rs797045713
gwascentral	rs797045713
openSNP	rs797045713
23andMe	rs797045713
SNPshot	rs797045713
SNPdbe	rs797045713
MSV3d	rs797045713
GWAS Ctlg	rs797045713

Max Magnitude

0

ClinVar
Risk	rs797045713(-;-)
Alt	rs797045713(-;-)
Reference	Rs797045713(CTC;CTC)
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.149828180_149828182delCTC
CLNSRC
CLNACC	RCV000193932.1,