rs1893592

This is a splice region variant variant in the UBASH3A gene.

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GWAS Catalog Trait Associations (9)

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

Graves disease

White SL et al. “Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.” Nature Genetics 58(2):307-316 (2026)

Allele C

OR 0.12

p 1.0e-14

N 1,881,665

Large GWAS

European

rheumatoid arthritis

Ha E et al. “Large-scale meta-analysis across East Asian and European populations updated genetic architecture and variant-driven biology of rheumatoid arthritis, identifying 11 novel susceptibility loci.” Annals of the Rheumatic Diseases 80(5):558-565 (2021)

Allele A

OR 1.10

p 2.0e-13

N 311,292

Meta-analysisLarge GWAS

multi-ancestry

Ishigaki K et al. “Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis.” Nature Genetics 54(11):1640-1651 (2022)

Allele A

OR 0.93

p 1.0e-10

N 276,020

Large GWAS

multi-ancestry

Okada Y et al. “Genetics of rheumatoid arthritis contributes to biology and drug discovery.” Nature 506(7488):376-381 (2014)

Allele A

OR 1.11

p 7.0e-12

N 79,799

Large GWAS

multi-ancestry

Kim K et al. “High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.” Annals of the Rheumatic Diseases 74(3):e13 (2015)

Allele A

OR 1.12

p 8.0e-11

N 55,089

Large GWAS

multi-ancestry

Laufer VA et al. “Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.” Human Molecular Genetics 28(5):858-874 (2019)

Allele A

OR 0.11

p 6.0e-12

N 2,308

Large GWAS

multi-ancestry

lymphocyte count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele C

OR 0.01

p 2.0e-12

N 524,923

Large GWAS

European

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele C

OR 0.02

p 2.0e-10

N 408,112

Large GWAS

European

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.01

p 1.0e-11

N 394,642

Large GWAS

European

sclerosing cholangitis

Ji SG et al. “Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.” Nature Genetics 49(2):269-273 (2017)

Allele A

OR 1.22

p 2.0e-12

N 14,890

Large GWAS

European

autoimmune disease

Márquez A et al. “Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations.” Genome Medicine 10(1):97 (2018)

Allele C

OR —

p 5.0e-12

N 59,468

Meta-analysisLarge GWAS

European

rheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement

Ishigaki K et al. “Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis.” Nature Genetics 54(11):1640-1651 (2022)

Allele C

OR 0.91

p 2.0e-11

N 267,597

Large GWAS

multi-ancestry

inflammatory bowel disease

Khrom M et al. “Sex-Dimorphic Analyses Identify Novel and Sex-Specific Genetic Associations in Inflammatory Bowel Disease.” Inflammatory Bowel Diseases 29(10):1622-1632 (2023)

Allele C

OR 0.91

p 8.0e-9

N 73,704

Large GWAS

European

sex interaction measurement, inflammatory bowel disease

Khrom M et al. “Sex-Dimorphic Analyses Identify Novel and Sex-Specific Genetic Associations in Inflammatory Bowel Disease.” Inflammatory Bowel Diseases 29(10):1622-1632 (2023)

Allele C

OR —

p 4.0e-8

N 73,704

Large GWAS

European

sarcoidosis

Yuan S et al. “GWAS identifies genetic loci, lifestyle factors and circulating biomarkers that are risk factors for sarcoidosis.” Nature Communications 16(1):2481 (2025)

Allele A

OR 1.10

p 3.0e-8

N 1,536,622

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

not provided; Hepatocellular carcinoma; Malignant lymphoma, large B-cell, diffuse

View on ClinVar →

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Research that mentions this SNP (2)

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Reduction of CD83 Expression on B Cells and the Genetic Basis for Rheumatoid Arthritis: Comment on the Article by Thalayasingam et al

FunctionalN=16Yumi Tsuchida et al.(2018)· Arthritis & Rheumatology

This functional study integrates epigenomic datasets (ATAC-seq, Hi-C, ChIP-seq, RNA-seq) from fibroblast-like synoviocytes (FLS) to map the functional relevance of 101 fine-mapped rheumatoid arthritis GWAS associations. FLS regulatory elements account for 24% of RA heritability, and the study assigns putative target genes to RA risk loci, identifying TNFAIP3, IFNAR1, CDK6, RBPJ and others as disease-relevant genes. TNF stimulation reveals dynamic chromatin interactions and differential gene expression at RA-associated regulatory regions.

Traits studied:Rheumatoid arthritis

PubMed DOI Metascience Observatory

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Genetic variants associated with celiac disease and the risk for coronary artery disease

Meta-analysisN=86,995Henning Jansen et al.(2015)· Molecular Genetics and Genomics

This meta-analysis of 22,233 CAD cases and 64,762 controls tested 41 celiac disease-associated SNPs for association with coronary artery disease (CAD). While 58.5% of celiac disease risk alleles showed positive association with CAD (OR 1.001-1.081), this was not significantly different from the 50% expected by chance (p=0.069). Only rs653178 at the SH2B3/ATXN2 locus achieved study-wide statistical significance (OR 1.081, p=2.2×10⁻⁶), likely through pleiotropic effects. The findings provide no convincing evidence that genetic variants associated with celiac disease contribute to CAD risk.

Traits studied:Celiac diseaseCoronary artery disease

PubMed DOI Metascience Observatory

About UBASH3A

This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

rs1893592

GWAS Catalog Trait Associations (9)

Graves disease

rheumatoid arthritis

lymphocyte count

sclerosing cholangitis

autoimmune disease

rheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement

inflammatory bowel disease

sex interaction measurement, inflammatory bowel disease

sarcoidosis

ClinVar annotation

Research that mentions this SNP (2)

About UBASH3A

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