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rs797045718

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045718(-;A)
Make rs797045718(A;A)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position150619114
GeneMTM1
is asnp
is mentioned by
dbSNPrs797045718
dbSNP (old)rs797045718
ClinGenrs797045718
ebirs797045718
HLIrs797045718
Exacrs797045718
Gnomadrs797045718
Varsomers797045718
Maprs797045718
PheGenIrs797045718
Biobankrs797045718
1000 genomesrs797045718
hgdprs797045718
ensemblrs797045718
gopubmedrs797045718
geneviewrs797045718
scholarrs797045718
googlers797045718
pharmgkbrs797045718
gwascentralrs797045718
openSNPrs797045718
23andMers797045718
23andMe allrs797045718
SNP Nexus

SNPshotrs797045718
SNPdbers797045718
MSV3drs797045718
GWAS Ctlgrs797045718
Max Magnitude0
ClinVar
Risk rs797045718(A;A)
Alt rs797045718(A;A)
Reference Rs797045718(-;-)
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.149787587dupA
CLNSRC
CLNACC RCV000192943.1,