rs12419634
This is a intron variant variant in the POU2AF1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
primary biliary cirrhosis
Cordell HJ et al. “An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.” Journal of Hepatology 75(3):572-581 (2021)
Allele C
OR 0.15
p 1.0e-13
N 31,288
Meta-analysisLarge 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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