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rs397518449

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs397518449(-;A)
Make rs397518449(A;A)
ReferenceGRCh38 38.1/141
Chromosome6
Position73497837
GeneMTO1
is asnp
is mentioned by
dbSNPrs397518449
dbSNP (classic)rs397518449
ClinGenrs397518449
ebirs397518449
HLIrs397518449
Exacrs397518449
Gnomadrs397518449
Varsomers397518449
LitVarrs397518449
Maprs397518449
PheGenIrs397518449
Biobankrs397518449
1000 genomesrs397518449
hgdprs397518449
ensemblrs397518449
geneviewrs397518449
scholarrs397518449
googlers397518449
pharmgkbrs397518449
gwascentralrs397518449
openSNPrs397518449
23andMers397518449
SNPshotrs397518449
SNPdbers397518449
MSV3drs397518449
GWAS Ctlgrs397518449
Max Magnitude0
ClinVar
Risk rs397518449(A;A)
Alt rs397518449(A;A)
Reference Rs397518449(-;-)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 10
Variation info
Gene MTO1
CLNDBN Combined oxidative phosphorylation deficiency 10
Reversed 0
HGVS NC_000006.11:g.74207560dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000029167.5,