rs7445

This is a regulatory region variant variant in the UBE2L3 gene.

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GWAS Catalog Trait Associations (5)

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

erythrocyte volume

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 0.05
p 2.0e-88
N 480,305
Large GWAS
multi-ancestry

alcohol consumption quality, high density lipoprotein cholesterol measurement

de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele T
OR —
p 5.0e-11
N 71,394
Large GWAS
multi-ancestry

alcohol drinking, high density lipoprotein cholesterol measurement

de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele T
OR —
p 4.0e-15
N 127,326
Large GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele T
OR —
β 0.007
p 2.0e-9
N 71,394
Large GWAS
multi-ancestry

About UBE2L3

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is demonstrated to participate in the ubiquitination of p53, c-Fos, and the NF-kB precursor p105 in vitro. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

View all UBE2L3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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