rs2276824

This variant is located in the PBRM1 gene.

▶

GWAS Catalog Trait Associations (3)

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

BMI-adjusted waist-hip ratio

Lotta LA et al. “Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.” Jama 320(24):2553-2563 (2018)
Allele C
OR 0.02
p 1.0e-41
N 660,648
Large GWAS
European
Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele C
OR 0.03
p 3.0e-20
N 219,872
Major Consortium StudyLarge GWAS
European
Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele C
OR 0.03
p 4.0e-9
N 143,480
Large GWAS
multi-ancestry

BMI-adjusted adiponectin measurement

Spracklen CN et al. “Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences.” Plos Genetics 16(9):e1009019 (2020)
Allele G
OR 0.09
p 4.0e-8
N 9,262
Large GWAS
European
▶

ClinVar annotation

Benign★★★☆
2 submitters1 publication
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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…