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rs797045724

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045724(-;T)
Make rs797045724(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position150596530
GeneMTM1
is asnp
is mentioned by
dbSNPrs797045724
dbSNP (old)rs797045724
ClinGenrs797045724
ebirs797045724
HLIrs797045724
Exacrs797045724
Gnomadrs797045724
Varsomers797045724
Maprs797045724
PheGenIrs797045724
Biobankrs797045724
1000 genomesrs797045724
hgdprs797045724
ensemblrs797045724
gopubmedrs797045724
geneviewrs797045724
scholarrs797045724
googlers797045724
pharmgkbrs797045724
gwascentralrs797045724
openSNPrs797045724
23andMers797045724
23andMe allrs797045724
SNP Nexus

SNPshotrs797045724
SNPdbers797045724
MSV3drs797045724
GWAS Ctlgrs797045724
Max Magnitude0
ClinVar
Risk rs797045724(T;T)
Alt rs797045724(T;T)
Reference Rs797045724(-;-)
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.149764994dupT
CLNSRC
CLNACC RCV000194336.1,