rs145371269

This is a intron variant variant in the PRPF19 gene.

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GWAS Catalog Trait Associations (1)

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

transmembrane protein 132A measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.34
p 1.0e-15
N 47,745
Large GWAS
European

About PRPF19

Enables identical protein binding activity and ubiquitin-ubiquitin ligase activity. Involved in several processes, including DNA damage checkpoint signaling; mRNA splicing, via spliceosome; and protein K63-linked ubiquitination. Acts upstream of or within protein polyubiquitination. Located in cytoplasm; nuclear lumen; and site of double-strand break. Part of Prp19 complex and U2-type catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Jul 2025]

View all PRPF19 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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