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rs132630307

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs132630307(A;A)
Make rs132630307(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position150638967
GeneMTM1
is asnp
is mentioned by
dbSNPrs132630307
ebirs132630307
HLIrs132630307
Exacrs132630307
Varsomers132630307
Maprs132630307
PheGenIrs132630307
hapmaprs132630307
1000 genomesrs132630307
hgdprs132630307
ensemblrs132630307
gopubmedrs132630307
geneviewrs132630307
scholarrs132630307
googlers132630307
pharmgkbrs132630307
gwascentralrs132630307
openSNPrs132630307
23andMers132630307
23andMe allrs132630307
SNP Nexus

SNPshotrs132630307
SNPdbers132630307
MSV3drs132630307
GWAS Ctlgrs132630307
Max Magnitude0
OMIM300415
Desc
Variant0010
Relatedalso
ClinVar
Risk rs132630307(A;A)
Alt rs132630307(A;A)
Reference rs132630307(G;G)
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.149807440G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011811.4,