rs62427982
This is a regulatory region variant variant in the BEND3 gene.
▶GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (9)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
mean reticulocyte volume
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.03
p 3.0e-28
N 408,112
Large GWAS
European
monocyte count
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.02
p 3.0e-21
N 444,975
Large GWAS
multi-ancestry
Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele T
OR —
p 2.0e-14
N 234,690
Large GWAS
European
intercellular adhesion molecule 4 measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.04
p 1.0e-18
N 47,745
Large GWAS
European
triglyceride measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.01
p 4.0e-13
N 394,642
Large GWAS
European
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 8.0e-13
N 450,015
Large GWAS
multi-ancestry
Richardson TG et al. “Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis.” Plos Medicine 17(3):e1003062 (2020)
Allele T
OR 0.01
p 1.0e-9
N 441,016
Large GWAS
European
triglycerides in small VLDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.01
p 2.0e-12
N 450,015
Large GWAS
multi-ancestry
triglycerides in small LDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.01
p 4.0e-12
N 450,015
Large GWAS
multi-ancestry
triglycerides in medium VLDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.01
p 6.0e-12
N 450,015
Large GWAS
multi-ancestry
MANSC domain-containing protein 1 measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.04
p 1.0e-11
N 47,745
Large GWAS
European
triglycerides in medium LDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.01
p 1.0e-10
N 450,015
Large GWAS
multi-ancestry
About BEND3
Enables rDNA binding activity. Involved in negative regulation of macromolecule biosynthetic process; positive regulation of ATP metabolic process; and protein homooligomerization. Located in heterochromatin; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all BEND3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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