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rs132630302

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs132630302(A;G)
Make rs132630302(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position150641306
GeneMTM1
is asnp
is mentioned by
dbSNPrs132630302
ebirs132630302
HLIrs132630302
Exacrs132630302
Varsomers132630302
Maprs132630302
PheGenIrs132630302
hapmaprs132630302
1000 genomesrs132630302
hgdprs132630302
ensemblrs132630302
gopubmedrs132630302
geneviewrs132630302
scholarrs132630302
googlers132630302
pharmgkbrs132630302
gwascentralrs132630302
openSNPrs132630302
23andMers132630302
23andMe allrs132630302
SNP Nexus

SNPshotrs132630302
SNPdbers132630302
MSV3drs132630302
GWAS Ctlgrs132630302
Max Magnitude0
OMIM300415
Desc
Variant0001
Relatedalso
ClinVar
Risk rs132630302(G;G)
Alt rs132630302(G;G)
Reference rs132630302(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.149809779A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011802.11,