rs11696919

This variant is located in the THBD gene.

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GWAS Catalog Trait Associations (1)

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

fatty acid amount

Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)

Allele C

OR —

p 2.0e-8

N 3,352

Large GWAS

African unspecified

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

Atypical hemolytic-uremic syndrome with thrombomodulin anomaly; not provided; Thrombomodulin-related bleeding disorder

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About THBD

The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]

View all THBD variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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