rs73611258

This is a intron variant variant in the TOP1 gene.

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GWAS Catalog Trait Associations (1)

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

urate measurement

Cho C et al. “Large-scale cross-ancestry genome-wide meta-analysis of serum urate.” Nature Communications 15(1):3441 (2024)

Allele A

OR 0.02

p 1.0e-11

N 1,029,323

Meta-analysisLarge GWAS

multi-ancestry

Tin A et al. “Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.” Nature Genetics 51(10):1459-1474 (2019)

Allele A

OR 0.02

p 4.0e-10

N 457,690

Large GWAS

multi-ancestry

About TOP1

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq, Jul 2008]

View all TOP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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