rs62641680

This variant is located in the DGUOK gene.

▶

GWAS Catalog Trait Associations (2)

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

mitochondrial DNA measurement

Chong M et al. “GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia.” Elife 11 (2022)
Allele A
OR 0.09
p 5.0e-47
N 395,718
Large GWAS
European, South Asian, African unspecified
Gupta R et al. “Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.” Nature 620(7975):839-848 (2023)
Allele A
OR 0.13
p 2.0e-34
N 163,372
Large GWAS
multi-ancestry

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 G
OR 0.47
p 2.0e-16
N 4,847
Large GWAS
multi-ancestry
▶

ClinVar annotation

Benign★★★☆
5 submitters2 publications

not specified; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); not provided

View on ClinVar →

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]

View all DGUOK variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…