Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045723(-;A)
Make rs797045723(A;A)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position150649817
GeneMTM1
is asnp
is mentioned by
dbSNPrs797045723
ClinGenrs797045723
ebirs797045723
HLIrs797045723
Exacrs797045723
Varsomers797045723
Maprs797045723
PheGenIrs797045723
hapmaprs797045723
1000 genomesrs797045723
hgdprs797045723
ensemblrs797045723
gopubmedrs797045723
geneviewrs797045723
scholarrs797045723
googlers797045723
pharmgkbrs797045723
gwascentralrs797045723
openSNPrs797045723
23andMers797045723
23andMe allrs797045723
SNP Nexus

SNPshotrs797045723
SNPdbers797045723
MSV3drs797045723
GWAS Ctlgrs797045723
Max Magnitude0
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,