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rs797045709

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045709(-;T)
Make rs797045709(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position150649863
GeneMTM1
is asnp
is mentioned by
dbSNPrs797045709
ClinGenrs797045709
ebirs797045709
HLIrs797045709
Exacrs797045709
Varsomers797045709
Maprs797045709
PheGenIrs797045709
hapmaprs797045709
1000 genomesrs797045709
hgdprs797045709
ensemblrs797045709
gopubmedrs797045709
geneviewrs797045709
scholarrs797045709
googlers797045709
pharmgkbrs797045709
gwascentralrs797045709
openSNPrs797045709
23andMers797045709
23andMe allrs797045709
SNP Nexus

SNPshotrs797045709
SNPdbers797045709
MSV3drs797045709
GWAS Ctlgrs797045709
Max Magnitude0
ClinVar
Risk rs797045709(T;T)
Alt rs797045709(T;T)
Reference Rs797045709(-;-)
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.149818336dupT
CLNSRC
CLNACC RCV000192362.1,