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rs797045722

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045722(-;A)
Make rs797045722(A;A)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position150649797
GeneMTM1
is asnp
is mentioned by
dbSNPrs797045722
ClinGenrs797045722
ebirs797045722
HLIrs797045722
Exacrs797045722
Varsomers797045722
Maprs797045722
PheGenIrs797045722
hapmaprs797045722
1000 genomesrs797045722
hgdprs797045722
ensemblrs797045722
gopubmedrs797045722
geneviewrs797045722
scholarrs797045722
googlers797045722
pharmgkbrs797045722
gwascentralrs797045722
openSNPrs797045722
23andMers797045722
23andMe allrs797045722
SNP Nexus

SNPshotrs797045722
SNPdbers797045722
MSV3drs797045722
GWAS Ctlgrs797045722
Max Magnitude0
ClinVar
Risk rs797045722(A;A)
Alt rs797045722(A;A)
Reference Rs797045722(;)
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.149818270dupA
CLNSRC
CLNACC RCV000195241.1,