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rs267606883

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606883(C;T)
Make rs267606883(T;T)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position6328
GeneMT-TC
is asnp
is mentioned by
dbSNPrs267606883
ebirs267606883
HLIrs267606883
Exacrs267606883
Varsomers267606883
Maprs267606883
PheGenIrs267606883
hapmaprs267606883
1000 genomesrs267606883
hgdprs267606883
ensemblrs267606883
gopubmedrs267606883
geneviewrs267606883
scholarrs267606883
googlers267606883
pharmgkbrs267606883
gwascentralrs267606883
openSNPrs267606883
23andMers267606883
23andMe allrs267606883
SNP Nexus

SNPshotrs267606883
SNPdbers267606883
MSV3drs267606883
GWAS Ctlgrs267606883
Max Magnitude0
ClinVar
Risk rs267606883(T;T)
Alt rs267606883(T;T)
Reference rs267606883(C;C)
Significance Pathogenic
Disease Cytochrome c oxidase i deficiency
Variation info
Gene COX1
CLNDBN Cytochrome c oxidase i deficiency
Reversed 0
HGVS NC_012920.1:m.6328C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010309.4,