rs71508903

This is a regulatory region variant variant in the ARID5B gene.

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GWAS Catalog Trait Associations (8)

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

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 T
OR 0.14
p 5.0e-37
N 484,308
Large GWAS
multi-ancestry
Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele T
OR 0.14
p 2.0e-32
N 305,582
Major Consortium StudyLarge GWAS
European

autoimmune thyroid disease

Saevarsdottir S et al. “FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease.” Nature 584(7822):619-623 (2020)
Allele T
OR 1.14
p 2.0e-31
N 754,406
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 T
OR 1.16
p 3.0e-25
N 311,292
Meta-analysisLarge GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.09
p 3.0e-8
N 595,872
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 T
OR 1.18
p 1.0e-8
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 T
OR 0.18
p 4.0e-9
N 2,308
Large GWAS
multi-ancestry

thyroid disease, drug use measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.09
p 8.0e-16
N 400,487
Major Consortium StudyLarge GWAS
multi-ancestry

Vitiligo

Jin Y et al. “Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.” Nature Genetics 48(11):1418-1424 (2016)
Allele T
OR 1.18
p 7.0e-9
N 40,258
Large GWAS
European

hypothyroidism

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 T
OR 0.08
p 2.0e-67
N 1,786,062
Large GWAS
European
Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)
Allele T
OR 0.10
p 5.0e-57
N 1,178,661
Large GWAS
European
Figuerêdo J et al. “Uncovering the shared genetic components of thyroid disorders and reproductive health.” European Journal of Endocrinology 191(2):211-222 (2024)
Allele T
OR 1.09
p 8.0e-17
N 691,986
Large GWAS
European
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.06
p 3.0e-13
N 626,668
Major Consortium StudyLarge GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.09
p 9.0e-14
N 583,911
Large GWAS
multi-ancestry
Mathieu S et al. “Genetic association and Mendelian randomization for hypothyroidism highlight immune molecular mechanisms.” Iscience 25(9):104992 (2022)
Allele T
OR 0.10
p 6.0e-22
N 494,577
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 T
OR 0.13
p 4.0e-30
N 394,626
Large GWAS
European

thyroid disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.09
p 2.0e-16
N 404,034
Major Consortium StudyLarge 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

About ARID5B

This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

View all ARID5B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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