rs17650301
This variant is located in the POLG2 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
heel bone mineral density
Morris JA et al. “An atlas of genetic influences on osteoporosis in humans and mice.” Nature Genetics 51(2):258-266 (2019)
Allele A
OR 0.02
p 2.0e-17
N 426,824
Large GWAS
European
asthma
Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele C
OR 0.03
p 1.0e-9
N 1,800,785
Meta-analysisLarge GWAS
multi-ancestry
sex hormone-binding globulin measurement
Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele C
OR 0.01
p 1.0e-9
N 368,929
Large GWAS
European
Thyroid stimulating hormone level
Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)
Allele C
OR 0.01
p 2.0e-9
N 482,873
Large GWAS
European
systolic blood pressure
Pozarickij A et al. “Causal relevance of different blood pressure traits on risk of cardiovascular diseases: GWAS and Mendelian randomisation in 100,000 Chinese adults.” Nature Communications 15(1):6265 (2024)
Allele A
OR 0.55
p 1.0e-8
N 100,453
Large GWAS
East Asian
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout POLG2
This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]
View all POLG2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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