rs2241712

This is a regulatory region variant variant 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.

heart failure

Jordà P et al. “Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases.” Npj Genomic Medicine 10(1):65 (2025)

Allele C

OR 6.50

p 8.0e-11

N 762,151

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

2 submitters2 publications

Familial aplasia of the vermis; Meckel-Gruber syndrome

View on ClinVar →

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Research that mentions this SNP (1)

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Lack of Association Between the TGF-β1 Gene and Development of COPD in Asians: A Case–Control Study and Meta-analysis

Meta-analysisN=4,116Yi Gong et al.(2011)· Lung

A case-control study of 160 COPD patients and 177 controls in Chinese subjects combined with a meta-analysis of 1508 COPD patients and 2608 controls found no significant association between TGFβ1 gene polymorphisms (rs1800469: OR=0.84, 95% CI 0.66-1.07; rs1982073: OR=1.06, 95% CI 0.70-1.60) and COPD risk in Asian populations, though ethnic subgroup analysis suggested possible associations in Caucasians.

Traits studied:Chronic obstructive pulmonary disease

PubMed DOI Metascience Observatory

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]