rs947474

This variant is located in the LINC02656 gene.

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GWAS Catalog Trait Associations (3)

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 1.10

p 2.0e-11

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 1.12

p 3.0e-10

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 1.0e-8

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 —

β 0.069

p 3.0e-8

N 2,308

Large GWAS

multi-ancestry

type 1 diabetes mellitus

Cooper JD et al. “Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.” Nature Genetics 40(12):1399-401 (2008)

Allele G

OR 1.10

p 4.0e-9

N 8,207

Meta-analysis

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 G

OR —

p 1.0e-8

N 59,468

Meta-analysisLarge GWAS

European

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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 & 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

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

rs947474

GWAS Catalog Trait Associations (3)

rheumatoid arthritis

type 1 diabetes mellitus

autoimmune disease

Research that mentions this SNP (1)

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