rs3132580

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GWAS Catalog Trait Associations (2)

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

membranous glomerulonephritis

Stanescu HC et al. “Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.” The New England Journal of Medicine 364(7):616-26 (2011)
Allele T
OR 2.74
p 3.0e-40
N 2,894
Large GWAS
European

hemoglobin measurement

Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele A
OR —
β 0.037
p 3.0e-34
N 684,122
Large GWAS
European
Timoteo VJ et al. “Common and ethnic-specific genetic determinants of hemoglobin concentration between Taiwanese Han Chinese and European Whites: findings from comparative two-stage genome-wide association studies.” The Journal of Nutritional Biochemistry 111:109126 (2023)
Allele A
OR —
β 0.041
p 4.0e-16
N 46,904
Large GWAS
European
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Research that mentions this SNP (1)

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Genetic association of the major histocompatibility complex with rheumatoid arthritis implicates two non‐DRB1 loci
AssociationN=1,832Charlotte Vignal et al.(2009)· Arthritis &amp; Rheumatism

This case-control study of 855 rheumatoid arthritis patients and 977 controls identified SNP associations in the MHC region using logistic regression across 2,360 markers. After adjusting for HLA-DRB1, 18 markers in 14 genes showed strong associations (P < 10^-4). The final model retained three independent markers: rs4678 in VARS2L (nonsynonymous R/Q at position 1049), rs2442728 upstream of HLA-B, and rs17499655 in HLA-DQA2 5'-UTR, confirming polygenic MHC contribution to RA beyond the shared epitope.

Traits studied:Anti-cyclic citrullinated peptide (anti-CCP) antibodiesRheumatoid ArthritisRheumatoid Factor (RF) seropositivity
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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