rs12593

This variant is located in the COQ8A gene.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

lymphocyte count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.03
p 9.0e-18
N 417,277
Major Consortium StudyLarge GWAS
multi-ancestry

monocyte count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.03
p 1.0e-14
N 429,585
Major Consortium StudyLarge GWAS
multi-ancestry

cataract

Choquet H et al. “A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.” Nature Communications 12(1):3595 (2021)
Allele T
OR 1.06
p 2.0e-16
N 538,515
Meta-analysisLarge GWAS
European

leukocyte quantity

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.05
p 1.0e-15
N 108,774
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

neutrophil count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.03
p 2.0e-18
N 386,525
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter2 publications
View on ClinVar →

About COQ8A

This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

View all COQ8A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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