rs9879090

This variant is located in the PBRM1 gene.

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GWAS Catalog Trait Associations (5)

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

erythrocyte count

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.02
p 5.0e-19
N 503,987
Large GWAS
multi-ancestry

Red cell distribution width

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.02
p 6.0e-19
N 408,112
Large GWAS
European

intelligence

Davies G et al. “Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.” Nature Communications 9(1):2098 (2018)
Allele T
OR 7.08
p 2.0e-12
N 300,486
Large GWAS
European

feeling nervous measurement

Nagel M et al. “Item-level analyses reveal genetic heterogeneity in neuroticism.” Nature Communications 9(1):905 (2018)
Allele T
OR 6.03
p 2.0e-9
N 373,121
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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