rs1394125

This variant is located in the UBE2Q2 gene.

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GWAS Catalog Trait Associations (9)

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

serum creatinine amount

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.04
p 5.0e-55
N 355,731
Major Consortium StudyLarge GWAS
multi-ancestry

glomerular filtration rate

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.04
p 7.0e-54
N 355,731
Major Consortium StudyLarge GWAS
multi-ancestry

cystatin C measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.03
p 8.0e-38
N 355,752
Major Consortium StudyLarge GWAS
multi-ancestry

serum urea amount

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.03
p 8.0e-37
N 355,637
Major Consortium StudyLarge GWAS
multi-ancestry

urate measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.03
p 6.0e-28
N 355,426
Major Consortium StudyLarge GWAS
multi-ancestry
Köttgen A et al. “Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.” Nature Genetics 45(2):145-54 (2013)
Allele A
OR 0.04
p 3.0e-13
N 110,347
Large GWAS
European

chronic kidney disease, serum creatinine amount

Köttgen A et al. “New loci associated with kidney function and chronic kidney disease.” Nature Genetics 42(5):376-84 (2010)
Allele A
OR 0.01
p 3.0e-17
N 67,093
Large GWAS
European
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Research that mentions this SNP (1)

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The frequency of single nucleotide polymorphisms and their association with uric acid concentration based on data from genome-wide association studies in the Korean population
AssociationN=2,359Chang-Nam Son et al.(2014)· Rheumatology International

A two-part genetic association study in Korean populations examining SNP associations with serum uric acid (SUA) concentration. Study 1 compared minor allele frequencies of 40 SNPs associated with SUA across Korean, Japanese, and European descent populations in 1,957 subjects. Study 2 analyzed associations in 402 RA patients, finding rs12734001 (PPP1R12B) most significantly associated with SUA levels (P_trend = 2.29 × 10^-9) and rs3741414 (INHBC) with P_trend = 0.01. Results showed Korean SNP frequencies were more similar to Japanese than European populations.

Traits studied:gouthyperuricemiaserum uric acid concentration
PubMedDOIMetascience Observatory

About UBE2Q2

Enables ubiquitin-protein transferase activity. Involved in protein K48-linked ubiquitination. Predicted to be located in cytosol. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

View all UBE2Q2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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