rs2867461

This variant is located in the ANXA3 gene.

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GWAS Catalog Trait Associations (1)

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

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 A
OR 1.13
p 1.0e-12
N 20,965
Meta-analysisLarge GWAS
East Asian
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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 ANXA3

This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. [provided by RefSeq, Jul 2008]

View all ANXA3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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