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rs267606613

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606613(A;A)
Make rs267606613(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position9952
GeneCOX3
is asnp
is mentioned by
dbSNPrs267606613
dbSNP (classic)rs267606613
ClinGenrs267606613
ebirs267606613
HLIrs267606613
Exacrs267606613
Gnomadrs267606613
Varsomers267606613
LitVarrs267606613
Maprs267606613
PheGenIrs267606613
Biobankrs267606613
1000 genomesrs267606613
hgdprs267606613
ensemblrs267606613
geneviewrs267606613
scholarrs267606613
googlers267606613
pharmgkbrs267606613
gwascentralrs267606613
openSNPrs267606613
23andMers267606613
SNPshotrs267606613
SNPdbers267606613
MSV3drs267606613
GWAS Ctlgrs267606613
Max Magnitude0
ClinVar
Risk rs267606613(A;A)
Alt rs267606613(A;A)
Reference Rs267606613(G;G)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency
Variation info
Gene COX3
CLNDBN Cytochrome-c oxidase deficiency
Reversed 0
HGVS NC_012920.1:m.9952G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010291.2,