rs1042579

This is a variant in the THBD gene that changes a alanine to an valine.

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GWAS Catalog Trait Associations (1)

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

thrombomodulin measurement

Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)
Allele A
OR 0.40
p 2.0e-318
N 21,758
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.17
p 2.0e-154
N 47,745
Large GWAS
European
Kalnapenkis A et al. “Genetic determinants of plasma protein levels in the Estonian population.” Scientific Reports 14(1):7694 (2024)
Allele A
OR 0.46
p 1.0e-10
N 497
Small GWAS
European
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ClinVar annotation

Uncertain Significance★★★☆
10 submitters7 publications

Atypical hemolytic-uremic syndrome; Atypical hemolytic-uremic syndrome with thrombomodulin anomaly; THBD-related disorder; Variant of unknown significance

View on ClinVar →

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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