rs34115864

This is a intron variant variant in the PBRM1 gene.

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GWAS Catalog Trait Associations (1)

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

poliovirus receptor measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele A

OR 0.11

p 8.0e-17

N 10,708

Large GWAS

European

About PBRM1

This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012]

View all PBRM1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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