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rs132630306

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630306(C;T)
Make rs132630306(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position150641410
GeneMTM1
is asnp
is mentioned by
dbSNPrs132630306
ebirs132630306
HLIrs132630306
Exacrs132630306
Varsomers132630306
Maprs132630306
PheGenIrs132630306
hapmaprs132630306
1000 genomesrs132630306
hgdprs132630306
ensemblrs132630306
gopubmedrs132630306
geneviewrs132630306
scholarrs132630306
googlers132630306
pharmgkbrs132630306
gwascentralrs132630306
openSNPrs132630306
23andMers132630306
23andMe allrs132630306
SNP Nexus

SNPshotrs132630306
SNPdbers132630306
MSV3drs132630306
GWAS Ctlgrs132630306
Max Magnitude0
OMIM300415
Desc
Variant0008
Relatedalso
ClinVar
Risk rs132630306(T;T)
Alt rs132630306(T;T)
Reference rs132630306(C;C)
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.149809883C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011809.4,