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rs132630304

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630304(C;T)
Make rs132630304(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position150598660
GeneMTM1
is asnp
is mentioned by
dbSNPrs132630304
ebirs132630304
HLIrs132630304
Exacrs132630304
Varsomers132630304
Maprs132630304
PheGenIrs132630304
hapmaprs132630304
1000 genomesrs132630304
hgdprs132630304
ensemblrs132630304
gopubmedrs132630304
geneviewrs132630304
scholarrs132630304
googlers132630304
pharmgkbrs132630304
gwascentralrs132630304
openSNPrs132630304
23andMers132630304
23andMe allrs132630304
SNP Nexus

SNPshotrs132630304
SNPdbers132630304
MSV3drs132630304
GWAS Ctlgrs132630304
Max Magnitude0
OMIM300415
Desc
Variant0003
Relatedalso
ClinVar
Risk rs132630304(G,T;G,T)
Alt rs132630304(G,T;G,T)
Reference rs132630304(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.149767124C>G; NC_000023.10:g.149767124C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000146433.1, RCV000011804.4,