rs181362

This is a intron variant variant in the UBE2L3 gene.

▶

GWAS Catalog Trait Associations (8)

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

phospholipids in small HDL 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 0.03
p 2.0e-42
N 450,015
Large GWAS
multi-ancestry

total lipids in small HDL 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 0.03
p 4.0e-38
N 450,015
Large GWAS
multi-ancestry

cholesterol in small HDL 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 0.03
p 2.0e-33
N 450,015
Large GWAS
multi-ancestry

concentration of small HDL particles 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 0.03
p 3.0e-31
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters in small HDL 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 0.03
p 1.0e-29
N 450,015
Large GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele T
OR —
β 0.038
p 4.0e-18
N 94,595
Large GWAS
European
Bentley AR et al. “Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.” Nature Genetics 51(4):636-648 (2019)
Allele T
OR 0.01
p 6.0e-9
N 133,824
Large GWAS
multi-ancestry
Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)
Allele T
OR 0.46
p 1.0e-8
N 99,900
Large GWAS
European
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele T
OR —
β 0.028
p 5.0e-9
N 94,674
Large GWAS
multi-ancestry

intraocular pressure measurement

Gao XR et al. “Genome-wide association analyses identify new loci influencing intraocular pressure.” Human Molecular Genetics 27(12):2205-2213 (2018)
Allele C
OR 0.10
p 3.0e-9
N 115,486
Large GWAS
European

pulse pressure measurement

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele T
OR 0.15
p 6.0e-10
N 810,865
Meta-analysisLarge GWAS
European
▶

Research that mentions this SNP (1)

▶
Association of a functional polymorphism of PTPN22 encoding a lymphoid protein phosphatase in bilateral Meniere's disease
AssociationN=2,344Jose A. Lopez‐Escamez et al.(2010)· The Laryngoscope

Case-control study of 716 Meniere's disease patients and 1,628 controls using ImmunoChip genotyping identified intronic variants rs3774937 (C allele) and rs4648011 (G allele) in the NFKB1 gene associated with faster hearing loss progression in patients with unilateral sensorineural hearing loss (corrected p=0.009 and p=0.003, respectively). These variants reduced median time to reach hearing stage 3 (≥40 dB) by approximately 2 years. No single variants reached genome-wide significance for MD susceptibility, and these NFKB1 variants did not influence hearing in bilateral MD.

Traits studied:Hearing loss progressionMeniere's diseaseSensorineural hearing loss
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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…