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rs132630303

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs132630303(A;G)
Make rs132630303(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position150657957
GeneMTM1
is asnp
is mentioned by
dbSNPrs132630303
ebirs132630303
HLIrs132630303
Exacrs132630303
Varsomers132630303
Maprs132630303
PheGenIrs132630303
hapmaprs132630303
1000 genomesrs132630303
hgdprs132630303
ensemblrs132630303
gopubmedrs132630303
geneviewrs132630303
scholarrs132630303
googlers132630303
pharmgkbrs132630303
gwascentralrs132630303
openSNPrs132630303
23andMers132630303
23andMe allrs132630303
SNP Nexus

SNPshotrs132630303
SNPdbers132630303
MSV3drs132630303
GWAS Ctlgrs132630303
Max Magnitude0
OMIM300415
Desc
Variant0002
Relatedalso
ClinVar
Risk rs132630303(G;G)
Alt rs132630303(G;G)
Reference rs132630303(A;A)
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.149826430A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011803.3,