rs11719685

This variant is located 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.

hemoglobin measurement

Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele T
OR —
β 0.014
p 2.0e-10
N 684,122
Large GWAS
European
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ClinVar annotation

Likely Benign★☆☆☆
2 submitters1 publication

not provided; Uterine corpus endometrial carcinoma; Ovarian serous cystadenocarcinoma; Malignant tumor of esophagus

View on ClinVar →

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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