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

rs797045721

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045721(-;GG)
Make rs797045721(GG;GG)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position150645872
GeneMTM1
is asnp
is mentioned by
dbSNPrs797045721
ClinGenrs797045721
ebirs797045721
HLIrs797045721
Exacrs797045721
Varsomers797045721
Maprs797045721
PheGenIrs797045721
hapmaprs797045721
1000 genomesrs797045721
hgdprs797045721
ensemblrs797045721
gopubmedrs797045721
geneviewrs797045721
scholarrs797045721
googlers797045721
pharmgkbrs797045721
gwascentralrs797045721
openSNPrs797045721
23andMers797045721
23andMe allrs797045721
SNP Nexus

SNPshotrs797045721
SNPdbers797045721
MSV3drs797045721
GWAS Ctlgrs797045721
Max Magnitude0
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,