rs3749971

This is a protein-altering variant in the OR12D3 gene.

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GWAS Catalog Trait Associations (4)

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

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 0.045
p 2.0e-38
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 0.049
p 5.0e-18
N 46,904
Large GWAS
European

intelligence

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.04
p 6.0e-21
N 254,641
Large GWAS
European
Savage JE et al. “Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.” Nature Genetics 50(7):912-919 (2018)
Allele G
OR 5.93
p 3.0e-9
N 269,867
Meta-analysisLarge GWAS
European

reaction time measurement

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.02
p 7.0e-12
N 404,449
Large GWAS
European

chronic obstructive pulmonary disease

Moll M et al. “A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.” American Journal of Physiology. Lung Cellular and Molecular Physiology 321(1):L130-L143 (2021)
Allele A
OR 1.11
p 3.0e-11
N 251,091
Large GWAS
multi-ancestry

About OR12D3

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]

View all OR12D3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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