rs5998509

This is a intron variant variant in the UBE2L3 gene.

GWAS Catalog Trait Associations (9)

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

lymphocyte count

Allele T
OR
p 5.0e-62
N 643,370
Large GWAS
multi-ancestry
Allele T
OR 0.04
p 2.0e-49
N 394,642
Large GWAS
European

lymphocyte percentage of leukocytes

Allele T
OR 0.03
p 2.0e-39
N 394,642
Large GWAS
European
Allele T
OR 0.03
p 3.0e-14
N 171,748
Large GWAS
European

total cholesterol measurement

Allele T
OR 0.03
p 2.0e-36
N 1,320,016
Large GWAS
European

neutrophil percentage of leukocytes

Allele T
OR 0.03
p 4.0e-26
N 394,642
Large GWAS
European
Allele T
OR 0.03
p 5.0e-10
N 171,542
Large GWAS
European

psoriasis

Allele T
OR 0.09
p 1.0e-12
N 472,819
Meta-analysisLarge 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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