rs2241713

This variant is located in the B9D2 gene.

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GWAS Catalog Trait Associations (1)

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

myocardial infarction

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele C

OR 0.08

p 1.0e-8

N 161,206

Large GWAS

East Asian

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

Meckel syndrome, type 10; not provided

View on ClinVar →

About B9D2

This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]

View all B9D2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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