rs13083798
This variant is located in the PBRM1 gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
red blood cell density
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele G
OR 0.02
p 3.0e-20
N 545,203
Large GWAS
European
hemoglobin measurement
Timoteo VJ et al. “Common and ethnic-specific genetic determinants of hemoglobin concentration between Taiwanese Han Chinese and European Whites: findings from comparative two-stage genome-wide association studies.” The Journal of Nutritional Biochemistry 111:109126 (2023)
Allele G
OR —
β 0.023
p 2.0e-12
N 52,141
Large GWAS
European
smoking behavior, BMI-adjusted waist-hip ratio
Justice AE et al. “Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.” Nature Communications 8:14977 (2017)
Allele A
OR 0.02
p 1.0e-8
N 191,661
Meta-analysisLarge GWAS
multi-ancestry
risk-taking behaviour
Karlsson Linnér R et al. “Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.” Nature Genetics 51(2):245-257 (2019)
Allele A
OR 0.01
p 5.0e-8
N 404,291
Large GWAS
European
BMI-adjusted waist circumference
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 A
OR 0.03
p 5.0e-10
N 122,328
Meta-analysisLarge GWAS
multi-ancestry
BMI-adjusted waist-hip ratio
Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele A
OR 0.03
p 2.0e-9
N 143,480
Large GWAS
multi-ancestry
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout 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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