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rs398123267

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123267(-;-)
Make rs398123267(-;CCTAT)
Make rs398123267(CCTAT;CCTAT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position150659713
GeneMTM1
is asnp
is mentioned by
dbSNPrs398123267
ebirs398123267
HLIrs398123267
Exacrs398123267
Varsomers398123267
Maprs398123267
PheGenIrs398123267
hapmaprs398123267
1000 genomesrs398123267
hgdprs398123267
ensemblrs398123267
gopubmedrs398123267
geneviewrs398123267
scholarrs398123267
googlers398123267
pharmgkbrs398123267
gwascentralrs398123267
openSNPrs398123267
23andMers398123267
23andMe allrs398123267
SNP Nexus

SNPshotrs398123267
SNPdbers398123267
MSV3drs398123267
GWAS Ctlgrs398123267
Max Magnitude0
ClinVar
Risk rs398123267(TCCTA;TCCTA)
Alt rs398123267(TCCTA;TCCTA)
Reference rs398123267(;)
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.149828182_149828186dupCCTAT
CLNSRC ClinVar
CLNACC RCV000078429.4,