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rs672601324

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs672601324(A;A)
Make rs672601324(A;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position150645682
GeneMTM1
is asnp
is mentioned by
dbSNPrs672601324
ebirs672601324
HLIrs672601324
Exacrs672601324
Varsomers672601324
Maprs672601324
PheGenIrs672601324
hapmaprs672601324
1000 genomesrs672601324
hgdprs672601324
ensemblrs672601324
gopubmedrs672601324
geneviewrs672601324
scholarrs672601324
googlers672601324
pharmgkbrs672601324
gwascentralrs672601324
openSNPrs672601324
23andMers672601324
23andMe allrs672601324
SNP Nexus

SNPshotrs672601324
SNPdbers672601324
MSV3drs672601324
GWAS Ctlgrs672601324
Max Magnitude0
ClinVar
Risk rs672601324(A;A)
Alt rs672601324(A;A)
Reference rs672601324(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.149814155G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011805.10,