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rs267606614

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs267606614(-;-)
Make rs267606614(-;C)
Make rs267606614(C;C)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position9537
GeneMT-ATP6
is asnp
is mentioned by
dbSNPrs267606614
ebirs267606614
HLIrs267606614
Exacrs267606614
Varsomers267606614
Maprs267606614
PheGenIrs267606614
hapmaprs267606614
1000 genomesrs267606614
hgdprs267606614
ensemblrs267606614
gopubmedrs267606614
geneviewrs267606614
scholarrs267606614
googlers267606614
pharmgkbrs267606614
gwascentralrs267606614
openSNPrs267606614
23andMers267606614
23andMe allrs267606614
SNP Nexus

SNPshotrs267606614
SNPdbers267606614
MSV3drs267606614
GWAS Ctlgrs267606614
Max Magnitude0
ClinVar
Risk rs267606614(C;C)
Alt rs267606614(C;C)
Reference rs267606614(;)
Significance Pathogenic
Disease Cytochrome-c oxidase deficiency Leigh syndrome
Variation info
Gene COX3
CLNDBN Cytochrome-c oxidase deficiency Leigh syndrome
Reversed 0
HGVS NC_012920.1:m.9537dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000010292.2, RCV000144008.2,