rs6421571

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (3)

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

primary biliary cirrhosis

Cordell HJ et al. “International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.” Nature Communications 6:8019 (2015)

Allele C

OR 1.39

p 2.0e-13

N 13,239

Meta-analysisLarge GWAS

European

biliary liver cirrhosis

Mells GF et al. “Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.” Nature Genetics 43(4):329-32 (2011)

Allele C

OR 1.37

p 3.0e-12

N 7,003

Large GWAS

European

atopic eczema

Chen Y et al. “Genome-Wide Integration of Genetic and Genomic Studies of Atopic Dermatitis: Insights into Genetic Architecture and Pathogenesis.” The Journal of Investigative Dermatology 142(11):2958-2967.e8 (2022)

Allele T

OR 0.07

p 3.0e-9

N 837,496

Large GWAS

multi-ancestry

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Research that mentions this SNP (2)

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Novel Rheumatoid Arthritis Susceptibility Locus at 22q12 Identified in an Extended UK Genome‐Wide Association Study

AssociationN=8,305Gisela Orozco et al.(2014)· Arthritis & Rheumatology

This extended UK genome-wide association study identified a novel rheumatoid arthritis susceptibility locus at 22q12 (rs1043099, P = 6.9 × 10⁻⁹, OR = 0.84) in 3,034 cases and 5,271 controls, and confirmed 16 previously known RA loci, strengthening evidence for genetic contributors to RA in the UK population.

Traits studied:Rheumatoid arthritis

PubMed DOI Metascience Observatory

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CXCR5 polymorphisms in non-Hodgkin lymphoma risk and prognosis

AssociationN=4,215Bridget Charbonneau et al.(2013)· Cancer Immunology, Immunotherapy

A clinic-based case-control study of 2,694 NHL cases and 1,521 controls found that five of ten CXCR5 tag SNPs were associated with non-Hodgkin lymphoma risk, with rs1790192 showing the strongest association (increased risk of follicular lymphoma). Paradoxically, rs1790192 was also associated with superior event-free survival in follicular lymphoma patients, suggesting different roles of CXCR5 in lymphoma initiation versus progression.

Traits studied:Chronic lymphocytic leukemiaDiffuse large B-cell lymphomaFollicular lymphomaMantle cell lymphomaMarginal zone lymphomaNon-Hodgkin lymphomaPeripheral T-cell lymphomaSmall lymphocytic lymphoma