rs2069235

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GWAS Catalog Trait Associations (5)

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

rheumatoid arthritis

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 1.12
p 1.0e-20
N 276,020
Large GWAS
multi-ancestry
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 1.14
p 2.0e-20
N 311,292
Meta-analysisLarge GWAS
multi-ancestry
Shigesi N et al. “The phenotypic and genetic association between endometriosis and immunological diseases.” Human Reproduction (oxford, England) 40(6):1195-1209 (2025)
Allele A
OR 0.03
p 8.0e-9
N 81,247
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 1.0e-11
N 1,178,661
Large GWAS
European

primary biliary cirrhosis

Cordell HJ et al. “International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.” Nature Communications 6:8019 (2015)
Allele A
OR 1.27
p 2.0e-11
N 13,239
Meta-analysisLarge GWAS
European

Thyroid preparation use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.05
p 5.0e-8
N 484,308
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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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 &amp; 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
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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