rs1042752

This is a downstream gene variant variant in the POU2AF1 gene.

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GWAS Catalog Trait Associations (2)

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

serum creatinine amount

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.01

p 7.0e-14

N 494,370

Large GWAS

multi-ancestry

glomerular filtration rate

Stanzick KJ et al. “Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.” Nature Communications 12(1):4350 (2021)

Allele G

OR 0.00

p 6.0e-12

N 460,826

Large GWAS

European, NR

Liu H et al. “Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.” Nature Genetics 54(7):950-962 (2022)

Allele G

OR 6.51

p 7.0e-11

N 1,508,659

Large GWAS

multi-ancestry

About POU2AF1

Enables transcription coactivator activity. Involved in positive regulation of transcription by RNA polymerase II. Part of RNA polymerase II transcription regulator complex. [provided by Alliance of Genome Resources, Jul 2025]

View all POU2AF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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