rs12619285

This is a regulatory region variant variant in the LOC102725082 gene.

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GWAS Catalog Trait Associations (4)

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

eosinophil percentage of leukocytes

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.06
p 2.0e-146
N 408,112
Large GWAS
European

eosinophil count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.05
p 9.0e-54
N 408,112
Large GWAS
European
Kachuri L et al. “Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.” American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele G
OR —
p 4.0e-46
N 234,763
Large GWAS
European
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele G
OR 0.06
p 6.0e-53
N 172,275
Large GWAS
European
Gudbjartsson DF et al. “Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.” Nature Genetics 41(3):342-7 (2009)
Allele G
OR 6.30
p 5.0e-10
N 9,392
Large GWAS
multi-ancestry

proteoglycan 3 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.08
p 9.0e-39
N 47,745
Large GWAS
European

level of bone marrow proteoglycan in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.05
p 5.0e-20
N 47,745
Large GWAS
European
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Research that mentions this SNP (1)

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FcɛR1α gene polymorphism shows association with high IgE and anti‐FcɛR1α in Chronic Rhinosinusitis with Nasal Polyposis
AssociationN=282Sajad A. Dar et al.(2018)· Journal of Cellular Biochemistry

A retrospective cohort study of 282 patients with severe uncontrolled asthma treated with omalizumab, mepolizumab, or benralizumab for 12 months evaluated genetic variants in 11 genes (IL1RL1, IL5, GATA2, IKZF2, RAD50, C3, FCER1A, FCER1B, FCGR2A, FCGR2B, FCGR3A) as predictors of response. Key findings: FCGR2B rs3219018-C, GATA2 rs4857855-T, and FCGR2A rs1801274-AG associated with improved lung function in omalizumab (p=0.052, 0.052, 0.012); IL1RL1 rs17026974-AG/GG associated with reduced exacerbations in omalizumab (p=0.040, 0.041); FCER1B rs569108-AA and FCGR2A rs1801274-GG associated with corticosteroid reduction in benralizumab; FCER1A rs2427837-A associated with improved lung function in mepolizumab (p=0.023).

Traits studied:Exacerbation reductionLung function improvementOral corticosteroid reductionResponse to benralizumabResponse to mepolizumabResponse to omalizumabSevere uncontrolled asthma
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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