rs2590838
This is a intron variant variant in the PBRM1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
adiponectin measurement
Dastani Z et al. “Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.” Plos Genetics 8(3):e1002607 (2012)
Allele G
OR 0.03
p 2.0e-13
N 35,355
Meta-analysisLarge GWAS
multi-ancestry
BMI-adjusted waist-hip ratio, physical activity measurement
Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele G
OR 0.02
p 2.0e-9
N 156,653
Meta-analysisLarge GWAS
multi-ancestry
BMI-adjusted waist-hip ratio
Graff M et al. “Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.” Plos Genetics 13(4):e1006528 (2017)
Allele G
OR 0.02
p 5.0e-8
N 118,949
Meta-analysisLarge GWAS
multi-ancestry
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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