rs10821944

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

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GWAS Catalog Trait Associations (7)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele G
OR 0.01
p 8.0e-38
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

rheumatoid arthritis

Okada Y et al. “Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.” Nature Genetics 44(5):511-6 (2012)
Allele G
OR 1.16
p 6.0e-18
N 20,965
Meta-analysisLarge GWAS
East Asian
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.12
p 6.0e-9
N 178,616
Large GWAS
East Asian

glomerular filtration rate

Stanzick KJ et al. “Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.” Nature Communications 12(1):4350 (2021)
Allele G
OR 0.00
p 2.0e-14
N 1,201,930
Large GWAS
multi-ancestry
Wuttke M et al. “A catalog of genetic loci associated with kidney function from analyses of a million individuals.” Nature Genetics 51(6):957-972 (2019)
Allele G
OR 0.00
p 1.0e-11
N 765,348
Large GWAS
multi-ancestry

serum creatinine amount

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 0.01
p 9.0e-12
N 494,370
Large GWAS
multi-ancestry

Graves disease

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 0.16
p 1.0e-11
N 634,085
Large GWAS
multi-ancestry

blood urea nitrogen amount

Stanzick KJ et al. “Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.” Nature Communications 12(1):4350 (2021)
Allele G
OR 0.00
p 9.0e-10
N 852,680
Large GWAS
European
Wuttke M et al. “A catalog of genetic loci associated with kidney function from analyses of a million individuals.” Nature Genetics 51(6):957-972 (2019)
Allele G
OR 0.00
p 1.0e-8
N 416,178
Large GWAS
European, NR

urate measurement

Cho C et al. “Large-scale cross-ancestry genome-wide meta-analysis of serum urate.” Nature Communications 15(1):3441 (2024)
Allele T
OR 0.01
p 2.0e-8
N 1,029,323
Meta-analysisLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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PLD4 as a novel susceptibility gene for systemic sclerosis in a Japanese population
AssociationN=1,141Chikashi Terao et al.(2013)· Arthritis &amp; Rheumatism

This case-control study identified PLD4 as a novel susceptibility gene for systemic sclerosis (SSc) in a Japanese population, with rs2841277 showing significant association (P=0.00017, OR=1.25). The study also confirmed associations between SSc and rs6932056 in TNFAIP3 (P=0.0000095, OR=1.50) and rs2280381 in IRF8 (P=0.0030, OR=1.26). rs2841280 in PLD4 exon 2 was found in strong linkage disequilibrium with rs2841277 and introduces an amino acid change (E27Q).

Traits studied:Diffuse cutaneous systemic sclerosis (dcSSc)Limited cutaneous systemic sclerosis (lcSSc)Systemic sclerosis
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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