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rs398123274

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123274(C;C)
Make rs398123274(C;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position150645692
GeneMTM1
is asnp
is mentioned by
dbSNPrs398123274
ebirs398123274
HLIrs398123274
Exacrs398123274
Varsomers398123274
Maprs398123274
PheGenIrs398123274
hapmaprs398123274
1000 genomesrs398123274
hgdprs398123274
ensemblrs398123274
gopubmedrs398123274
geneviewrs398123274
scholarrs398123274
googlers398123274
pharmgkbrs398123274
gwascentralrs398123274
openSNPrs398123274
23andMers398123274
23andMe allrs398123274
SNP Nexus

SNPshotrs398123274
SNPdbers398123274
MSV3drs398123274
GWAS Ctlgrs398123274
Max Magnitude0
ClinVar
Risk rs398123274(C;C)
Alt rs398123274(C;C)
Reference rs398123274(T;T)
Significance Pathogenic
Disease not provided Severe X-linked myotubular myopathy
Variation info
Gene MTM1
CLNDBN not provided Severe X-linked myotubular myopathy
Reversed 0
HGVS NC_000023.10:g.149814165T>C
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000078436.4, RCV000146479.1,