rs2855818

This variant is located in the UBTF gene.

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GWAS Catalog Trait Associations (4)

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

body fat percentage

Martin S et al. “Genetic Evidence for Different Adiposity Phenotypes and Their Opposing Influences on Ectopic Fat and Risk of Cardiometabolic Disease.” Diabetes 70(8):1843-1856 (2021)
Allele A
OR —
β 0.016
p 1.0e-21
N 442,278
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.01
p 3.0e-13
N 394,642
Large GWAS
European

body weight

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.01
p 6.0e-14
N 928,679
Large GWAS
multi-ancestry

urate measurement

Cho C et al. “Large-scale cross-ancestry genome-wide meta-analysis of serum urate.” Nature Communications 15(1):3441 (2024)
Allele A
OR 0.02
p 2.0e-11
N 1,029,323
Meta-analysisLarge GWAS
multi-ancestry
Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele A
OR 0.02
p 7.0e-10
N 630,117
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →

About UBTF

This gene encodes a member of the HMG-box DNA-binding protein family. The encoded protein plays a critical role in ribosomal RNA transcription as a key component of the pre-initiation complex, mediating the recruitment of RNA polymerase I to rDNA promoter regions. The encoded protein may also play important roles in chromatin remodeling and pre-rRNA processing, and its activity is regulated by both phosphorylation and acetylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3, 11 and X and the long arm of chromosome 11. [provided by RefSeq, Aug 2011]

View all UBTF variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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