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rs398122419

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122419(C;T)
Make rs398122419(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position73480777
GeneMTO1
is asnp
is mentioned by
dbSNPrs398122419
ebirs398122419
HLIrs398122419
Exacrs398122419
Varsomers398122419
Maprs398122419
PheGenIrs398122419
hapmaprs398122419
1000 genomesrs398122419
hgdprs398122419
ensemblrs398122419
gopubmedrs398122419
geneviewrs398122419
scholarrs398122419
googlers398122419
pharmgkbrs398122419
gwascentralrs398122419
openSNPrs398122419
23andMers398122419
23andMe allrs398122419
SNP Nexus

SNPshotrs398122419
SNPdbers398122419
MSV3drs398122419
GWAS Ctlgrs398122419
Max Magnitude0
ClinVar
Risk rs398122419(T;T)
Alt rs398122419(T;T)
Reference rs398122419(C;C)
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.74190500C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000074507.2,