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rs132630305

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630305(C;T)
Make rs132630305(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position150645725
GeneMTM1
is asnp
is mentioned by
dbSNPrs132630305
ebirs132630305
HLIrs132630305
Exacrs132630305
Varsomers132630305
Maprs132630305
PheGenIrs132630305
hapmaprs132630305
1000 genomesrs132630305
hgdprs132630305
ensemblrs132630305
gopubmedrs132630305
geneviewrs132630305
scholarrs132630305
googlers132630305
pharmgkbrs132630305
gwascentralrs132630305
openSNPrs132630305
23andMers132630305
23andMe allrs132630305
SNP Nexus

SNPshotrs132630305
SNPdbers132630305
MSV3drs132630305
GWAS Ctlgrs132630305
Max Magnitude0
OMIM300415
Desc
Variant0007
Relatedalso
ClinVar
Risk rs132630305(T;T)
Alt rs132630305(T;T)
Reference rs132630305(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.149814198C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011808.5,