rs181483773

This is a downstream gene variant variant in the PABPN1L gene.

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GWAS Catalog Trait Associations (1)

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

strand of hair color

Jiang L et al. “A generalized linear mixed model association tool for biobank-scale data.” Nature Genetics 53(11):1616-1621 (2021)

Allele A

OR 1.05

p 9.0e-22

N 455,164

Large GWAS

European

About PABPN1L

Predicted to enable poly(A) binding activity. Predicted to be involved in nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay. Predicted to act upstream of or within maternal-to-zygotic transition of gene expression; negative regulation of SCF-dependent proteasomal ubiquitin-dependent catabolic process; and negative regulation of protein ubiquitination. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

View all PABPN1L variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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