rs8099412

This is a intron variant variant in the CD226 gene.

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GWAS Catalog Trait Associations (5)

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

immature platelet measurement

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele C
OR 0.10
p 4.0e-47
N 36,829
Large GWAS
European

monocyte count

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 3.0e-11
N 639,696
Large GWAS
multi-ancestry

hypothyroidism

Mathieu S et al. “Genetic association and Mendelian randomization for hypothyroidism highlight immune molecular mechanisms.” Iscience 25(9):104992 (2022)
Allele T
OR 0.05
p 9.0e-11
N 494,577
Large GWAS
European

asthma, chronic rhinosinusitis

Saarentaus EC et al. “131 genetic loci highlight immunological pathways and tissues in nasal polyposis and asthma.” Nature Communications 16(1):9879 (2025)
Allele T
OR 1.03
p 4.0e-8
N 774,567
Large GWAS
European

platelet quantity

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele C
OR 0.07
p 3.0e-20
N 29,658
Large GWAS
European

About CD226

This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

View all CD226 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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