rs2241714

This is a variant in the B9D2 gene that changes a isoleucine to an methionine.

▶

GWAS Catalog Trait Associations (1)

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

coronary artery disease

Matsunaga H et al. “Transethnic Meta-Analysis of Genome-Wide Association Studies Identifies Three New Loci and Characterizes Population-Specific Differences for Coronary Artery Disease.” Circulation. Genomic and Precision Medicine 13(3):e002670 (2020)

Allele T

OR 1.05

p 4.0e-11

N 392,241

Meta-analysisLarge GWAS

multi-ancestry

▶

ClinVar annotation

Benign★★★☆

9 submitters2 publications

Familial aplasia of the vermis; Meckel syndrome, type 10 (MKS10); Meckel-Gruber syndrome; not specified

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…