rs4821116

This is a intron variant variant in the UBE2L3 gene.

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GWAS Catalog Trait Associations (3)

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

hepatitis B virus infection

Hu Z et al. “New loci associated with chronic hepatitis B virus infection in Han Chinese.” Nature Genetics 45(12):1499-503 (2013)
Allele G
OR 1.22
p 2.0e-12
N 1,888
Large GWAS
East Asian

aortic stenosis

Kany S et al. “Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk.” Nature Genetics 58(1):47-56 (2026)
Allele C
OR 0.02
p 2.0e-8
N 205,483
Large GWAS
European
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Research that mentions this SNP (1)

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Cancer risk in chronic hepatitis B: Do genome-wide association studies hit the mark?
ReviewMarkus Casper et al.(2011)· Hepatology

This review synthesizes genome-wide association studies (GWAS) identifying host genetic factors affecting hepatitis B virus (HBV) infection outcomes. HBV persistence is predominantly associated with HLA genes (HLA-DP, HLA-DQ, HLA-C with OR 0.46-2.31) and immune-related genes including CFB, NOTCH4, CD40, UBE2L3, TCF19, and EHMT2. HBV persistence and hepatitis B vaccine nonresponse share overlapping genetic bases with HLA variants, while genetic risk factors for advanced liver diseases (cirrhosis, hepatocellular carcinoma) are largely distinct.

Traits studied:Chronic hepatitis B infectionHBV-related advanced liver diseaseHepatitis B vaccine nonresponseHepatitis B vaccine responseHepatitis B virus persistenceHepatocellular carcinomaLiver cirrhosis
PubMedDOIMetascience Observatory

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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