rs2769264

This is a regulatory region variant variant in the SELENBP1 gene.

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GWAS Catalog Trait Associations (3)

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

serum copper measurement

Evans DM et al. “Genome-wide association study identifies loci affecting blood copper, selenium and zinc.” Human Molecular Genetics 22(19):3998-4006 (2013)
Allele G
OR 0.31
p 3.0e-20
N 2,603
Large GWAS
European

protein measurement

He B et al. “Genome-wide pQTL analysis of protein expression regulatory networks in the human liver.” Bmc Biology 18(1):97 (2020)
Allele G
OR —
β 0.013
p 6.0e-12
N 287
Small GWAS
multi-ancestry

body mass index

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele G
OR 0.02
p 3.0e-8
N 342,566
Large GWAS
European

About SELENBP1

This gene encodes a member of the selenium-binding protein family. Selenium is an essential nutrient that exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. The effects of selenium in preventing cancer and neurologic diseases may be mediated by selenium-binding proteins, and decreased expression of this gene may be associated with several types of cancer. The encoded protein may play a selenium-dependent role in ubiquitination/deubiquitination-mediated protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]

View all SELENBP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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