rs7097397

This is a protein-altering variant in the WDFY4 gene.

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GWAS Catalog Trait Associations (5)

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

systemic lupus erythematosus

Yin X et al. “Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus.” Annals of the Rheumatic Diseases 80(5):632-640 (2021)
Allele G
OR 0.81
p 2.0e-40
N 208,370
Meta-analysisLarge GWAS
East Asian
Bentham J et al. “Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.” Nature Genetics 47(12):1457-1464 (2015)
Allele G
OR 1.20
p 9.0e-12
N 14,267
Large GWAS
European
Yang W et al. “Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus.” Plos Genetics 6(2):e1000841 (2010)
Allele G
OR 1.30
p 8.0e-12
N 1,798
Large GWAS
multi-ancestry

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 A
OR 0.92
p 1.0e-12
N 311,292
Meta-analysisLarge GWAS
multi-ancestry
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 0.93
p 1.0e-12
N 276,020
Large GWAS
multi-ancestry

primary biliary cirrhosis

Cordell HJ et al. “An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.” Journal of Hepatology 75(3):572-581 (2021)
Allele A
OR 0.14
p 2.0e-10
N 24,510
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans
AssociationN=5,422Christopher J. Lessard et al.(2016)· Arthritis &amp; Rheumatology

Genome-wide association study in 1,174 Korean SLE cases and 4,248 controls identified 12 genome-wide significant loci, including a novel locus spanning ATG16L2, FCHSD2, and P2RY2 peaking at rs11235667 (P=1.0×10⁻⁸, OR=0.59). The study replicated 10 previously established SLE risk loci (STAT4, TNFSF4, TNFAIP3, IKZF1, HIP1, IRF5, BLK, WDFY4, ETS1, IRAK1-MECP2) and identified novel independent effects in TNFAIP3 and TNFSF4. HLA-DRB1*1501 and HLA-DQB1*0602 were the strongest HLA associations (P=5.55×10⁻¹⁶, OR=1.85 and OR=1.90 respectively).

Traits studied:Systemic lupus erythematosus (SLE)
PubMedDOIMetascience Observatory

About WDFY4

Predicted to be involved in antigen processing and presentation. Predicted to act upstream of or within with a positive effect on CD8-positive, alpha-beta T cell activation. Predicted to act upstream of or within cellular response to virus. Predicted to be located in early endosome and endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

View all WDFY4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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