rs11820589

This is a protein-altering variant in the BUD13 gene.

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GWAS Catalog Trait Associations (13)

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

aspartate aminotransferase measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.04
p 2.0e-20
N 493,058
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Association of TGFBR2 rs6785358 Polymorphism with Increased Risk of Congenital Ventricular Septal Defect in a Chinese Population
AssociationN=3,000Xiang-Ting Li et al.(2015)· Pediatric Cardiology

This association study examined 141 tag SNPs in 8 transforming growth factor-beta (TGFβ) signaling pathway genes (SMAD2, SMAD3, SMAD4, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2) in 3,000 Taiwanese subjects (2,467 without metabolic syndrome, 533 with) to assess associations with metabolic syndrome (MetS). The study found significant associations with SMAD2 rs11082639 (OR=1.66, 95% CI=1.32-2.08, P=1.4×10⁻⁵ in additive model) and TGFBR2 rs3773651 (OR=1.50, 95% CI=1.04-2.15, P=0.0285 in additive model), which remained significant after Bonferroni correction. SMAD2 rs11082639 was specifically associated with high waist circumference. Gene-gene interaction analysis revealed a significant interaction between SMAD2 and TGFBR2 variants influencing MetS risk.

Traits studied:blood pressurefasting glucosehigh-density lipoprotein cholesterolmetabolic syndrometriglyceridewaist circumference
PubMedDOIMetascience Observatory

About BUD13

Enables RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleoplasm. Part of U2-type precatalytic spliceosome. [provided by Alliance of Genome Resources, Jul 2025]

View all BUD13 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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