rs4657041

This is a upstream gene variant variant in the FCGR2A gene.

GWAS Catalog Trait Associations (7)

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

low affinity immunoglobulin gamma Fc region receptor II-a measurement

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 1.22
p
N 10,708
Large GWAS
European

low affinity immunoglobulin gamma Fc region receptor II-b measurement

Sun BB et al. Genomic atlas of the human plasma proteome. Nature 558(7708):73-79 (2018)
Allele C
OR 0.87
p
N 3,301
Large GWAS
European

tyrosine-protein kinase JAK2 measurement

Allele C
OR 1.23
p 8.0e-69
N 200
Small GWAS
European

programmed cell death 1 ligand 1 amount

Allele C
OR 0.06
p 9.0e-28
N 47,745
Large GWAS
European

serum albumin amount

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.02
p 2.0e-10
N 136,016
Large GWAS
multi-ancestry

blood protein amount

Allele C
OR 0.15
p 1.0e-8
N 3,651
Large GWAS
European

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

About FCGR2A

This gene encodes one member of a family of immunoglobulin Fc receptor genes found on the surface of many immune response cells. The protein encoded by this gene is a cell surface receptor found on phagocytic cells such as macrophages and neutrophils, and is involved in the process of phagocytosis and clearing of immune complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]

View all FCGR2A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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