rs3782123

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GWAS Catalog Trait Associations (4)

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

hemoglobin A1 measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.03
p 7.0e-42
N 415,403
Large GWAS
multi-ancestry

level of protein phosphatase methylesterase 1 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 A
OR 0.05
p 1.0e-13
N 47,745
Large GWAS
European

Red cell distribution width

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele C
OR —
p 1.0e-63
N 563,352
Large GWAS
multi-ancestry
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.03
p 1.0e-21
N 408,112
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.03
p 2.0e-42
N 394,642
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 C
OR 0.04
p 4.0e-24
N 171,529
Large GWAS
European
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Research that mentions this SNP (2)

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BET1L and TNRC6B associate with uterine fibroid risk among European Americans
AssociationN=2,635Todd L. Edwards et al.(2013)· Human Genetics

This association study tested SNPs from a prior Japanese GWAS for association with uterine fibroids in 1,086 European American cases and 1,549 controls from two U.S. cohorts (RFTS and BioVU). Two SNP associations replicated: BET1L rs2280543 (meta-OR=0.67, 95% CI 0.38-0.96, p=6.9×10⁻³) and TNRC6B rs12484776 (meta-OR=1.21, 95% CI 1.07-1.35, p=8.7×10⁻³). When combined with the prior Japanese GWAS, BET1L rs2280543 showed genome-wide significance (meta-OR=0.66, p=3.89×10⁻⁹), suggesting common variants increase uterine fibroid risk in both European American and Japanese populations.

Traits studied:Uterine fibroids
PubMedDOIMetascience Observatory
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Association of glycosylated hemoglobin with the gene encoding CDKAL1 in the Korean Association Resource (KARE) study
Meta-analysisN=159,940Jihye Ryu et al.(2012)· Human Mutation

Transethnic genome-wide meta-analysis in 159,940 individuals identified 60 common genetic variants associated with HbA1c levels. Variants were classified as glycemic (19), erythrocytic (22), or unclassified (19) based on their biological mechanisms. Glycemic variants were associated with higher type 2 diabetes risk (OR=1.05 per allele, p=3×10⁻²⁹), while erythrocytic variants were not. The X-linked G6PD G202A variant showed a large effect in African Americans (0.81% HbA1c reduction per allele) but minimal effects in other ancestries, potentially causing 2% of African American T2D cases to remain undiagnosed when using HbA1c screening.

Traits studied:2-hour glucoseErythrocytic traitsFasting glucoseGlycemic traitsHemoglobin A1c (HbA1c)Type 2 diabetes
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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