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rs797045711

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs797045711(AG;T)
Make rs797045711(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position150657994
GeneMTM1
is asnp
is mentioned by
dbSNPrs797045711
dbSNP (old)rs797045711
ClinGenrs797045711
ebirs797045711
HLIrs797045711
Exacrs797045711
Gnomadrs797045711
Varsomers797045711
Maprs797045711
PheGenIrs797045711
Biobankrs797045711
1000 genomesrs797045711
hgdprs797045711
ensemblrs797045711
gopubmedrs797045711
geneviewrs797045711
scholarrs797045711
googlers797045711
pharmgkbrs797045711
gwascentralrs797045711
openSNPrs797045711
23andMers797045711
23andMe allrs797045711
SNP Nexus

SNPshotrs797045711
SNPdbers797045711
MSV3drs797045711
GWAS Ctlgrs797045711
Max Magnitude0
ClinVar
Risk rs797045711(T;T)
Alt rs797045711(T;T)
Reference Rs797045711(AG;AG)
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.149826467_149826468delAGinsT
CLNSRC
CLNACC RCV000194855.1,