rs74874677

This is a variant in the DGUOK gene that changes a glutamine to an arginine.

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GWAS Catalog Trait Associations (2)

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

mitochondrial heteroplasmy measurement

Gupta R et al. “Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.” Nature 620(7975):839-848 (2023)

Allele A

OR 0.58

p 3.0e-25

N 7,062

Large GWAS

multi-ancestry

mitochondrial DNA measurement

Gupta R et al. “Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.” Nature 620(7975):839-848 (2023)

Allele A

OR 0.11

p 8.0e-19

N 163,372

Large GWAS

multi-ancestry

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ClinVar annotation

Pathogenic★★★☆

15 submitters4 publications

Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Portal hypertension, noncirrhotic, 1 (NCPH1); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4; not specified

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About DGUOK

In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]