rs2227139

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (2)

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

Henoch-Schoenlein purpura

Koskela M et al. “HLA-DQ and HLA-DRB1 alleles associated with Henoch-Schönlein purpura nephritis in Finnish pediatric population: a genome-wide association study.” Pediatric Nephrology (berlin, Germany) 36(8):2311-2318 (2021)
Allele G
OR 0.15
p 3.0e-9
N 18,803
Large GWAS
European
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Research that mentions this SNP (1)

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Association of the HLA region with multiple sclerosis as confirmed by a genome screen using &gt;10,000 SNPs on DNA chips
AssociationN=760René Gödde et al.(2005)· Journal of Molecular Medicine

A genome-wide association study of 100 multiple sclerosis (MS) patients and 100 controls using 11,555 SNPs on Affymetrix chips, with validation in 280 additional MS patients and 280 controls. The strongest association was rs2395182 on chromosome 6p21.32 (P ≈ 10^-14), located near the HLA-DRA gene and in linkage disequilibrium with the established HLA-DRB1*15/DRB1*16 locus. Multiple flanking SNPs (rs2213584, rs2227139, rs2395166) also showed significant associations, confirming the pivotal role of the HLA region in MS susceptibility.

Traits studied:Multiple sclerosis
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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