rs2736337

This is a regulatory region variant variant.

GWAS Catalog Trait Associations (2)

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

systemic scleroderma, rheumatoid arthritis, myositis, systemic lupus erythematosus

Acosta-Herrera M et al. Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. Annals of the Rheumatic Diseases 78(3):311-319 (2019)
Allele C
OR 1.23
p 5.0e-22
N 31,408
Meta-analysisLarge GWAS
European

rheumatoid arthritis

Allele C
OR 1.11
p 3.0e-13
N 79,799
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 C
OR 0.13
p 4.0e-13
N 2,308
Large GWAS
multi-ancestry

Research that mentions this SNP (1)

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

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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