rs11203203

This is a downstream gene variant variant in the UBASH3A gene.

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GWAS Catalog Trait Associations (5)

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

type 1 diabetes mellitus

Crouch DJM et al. “Bayesian Effect Size Ranking to Prioritise Genetic Risk Variants in Common Diseases for Follow-Up Studies.” Genetic Epidemiology 49(1):e22608 (2025)
Allele A
OR 1.14
p 3.0e-17
N 173,981
Large GWAS
European

hypothyroidism

Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)
Allele A
OR 0.04
p 3.0e-15
N 1,178,661
Large GWAS
European

Vitiligo

Jin Y et al. “Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.” The New England Journal of Medicine 362(18):1686-97 (2010)
Allele A
OR 1.27
p 1.0e-9
N 4,021
Large GWAS
European

immune system disease

Zhernakova A et al. “Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.” Plos Genetics 7(2):e1002004 (2011)
Allele A
OR —
p 1.0e-8
N 38,053
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (2)

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Polymorphisms in the CTSH gene may influence the progression of diabetic retinopathy: a candidate-gene study in the Danish Cohort of Pediatric Diabetes 1987 (DCPD1987)
AssociationN=130Steffen U. Thorsen et al.(2015)· Graefe's Archive for Clinical and Experimental Ophthalmology

This candidate gene study of 130 Danish children with type 1 diabetes examined associations between 20 diabetes-related SNPs and diabetic retinopathy progression over 16 years. The CTSH/rs3825932 variant was associated with reduced risk of progression to proliferative diabetic retinopathy (OR=0.20, p=2.4×10⁻³, p_adjust=0.048), while ERBB3/rs2292239 was associated with increased risk of two-step DR progression (OR=2.76, p=7.5×10⁻³, p_adjust=0.15). The CTSH association remained significant after multiple testing correction.

Traits studied:Diabetic retinopathyProliferative diabetic retinopathyType 1 diabetes mellitus
PubMedDOIMetascience Observatory
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Replication of association of the PTPRC gene with response to anti–tumor necrosis factor therapy in a large UK cohort
AssociationN=1,115Darren Plant et al.(2012)· Arthritis &amp; Rheumatism

A study of 1,115 UK rheumatoid arthritis patients receiving anti-TNF biologic therapy found that rs10919563 in the PTPRC gene was associated with improved treatment response (regression coefficient 0.19, 95% CI 0.09-0.37, P=0.04 for continuous DAS28 outcome; OR 0.62, 95% CI 0.40-0.95, P=0.03 for good EULAR response). Meta-analysis with a previous study strengthened evidence (P=5.13×10⁻⁵). Secondary analysis identified rs11594656 in IL2RA associated with good EULAR response (OR 1.47, P=0.02).

Traits studied:Anti-TNF treatment responseRheumatoid arthritis
PubMedDOIMetascience 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]

View all UBASH3A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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