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

rs797045710

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045710(-;A)
Make rs797045710(A;A)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position150657856
GeneMTM1
is asnp
is mentioned by
dbSNPrs797045710
dbSNP (old)rs797045710
ClinGenrs797045710
ebirs797045710
HLIrs797045710
Exacrs797045710
Gnomadrs797045710
Varsomers797045710
Maprs797045710
PheGenIrs797045710
Biobankrs797045710
1000 genomesrs797045710
hgdprs797045710
ensemblrs797045710
gopubmedrs797045710
geneviewrs797045710
scholarrs797045710
googlers797045710
pharmgkbrs797045710
gwascentralrs797045710
openSNPrs797045710
23andMers797045710
23andMe allrs797045710
SNP Nexus

SNPshotrs797045710
SNPdbers797045710
MSV3drs797045710
GWAS Ctlgrs797045710
Max Magnitude0
ClinVar
Risk rs797045710(A;A)
Alt rs797045710(A;A)
Reference Rs797045710(-;-)
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.149826329dupA
CLNSRC
CLNACC RCV000193627.1,