Have questions? Visit https://www.reddit.com/r/SNPedia

rs397518445

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397518445(A;G)
Make rs397518445(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position150659654
GeneMTM1
is asnp
is mentioned by
dbSNPrs397518445
ebirs397518445
HLIrs397518445
Exacrs397518445
Varsomers397518445
Maprs397518445
PheGenIrs397518445
hapmaprs397518445
1000 genomesrs397518445
hgdprs397518445
ensemblrs397518445
gopubmedrs397518445
geneviewrs397518445
scholarrs397518445
googlers397518445
pharmgkbrs397518445
gwascentralrs397518445
openSNPrs397518445
23andMers397518445
23andMe allrs397518445
SNP Nexus

SNPshotrs397518445
SNPdbers397518445
MSV3drs397518445
GWAS Ctlgrs397518445
Max Magnitude0
ClinVar
Risk rs397518445(G;G)
Alt rs397518445(G;G)
Reference rs397518445(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.149828127A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011807.9,