rs1799809

This is a regulatory region variant variant in the PROC gene.

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GWAS Catalog Trait Associations (1)

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

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)

Allele G

OR 0.16

p 2.0e-22

N 5,348

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

2 submitters2 publications

Thrombophilia due to protein C deficiency, autosomal dominant

View on ClinVar →

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Research that mentions this SNP (2)

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Protein C rs2069912 C allele is associated with increased mortality from severe sepsis in North Americans of East Asian ancestry

AssociationN=100James A. Russell et al.(2008)· Human Genetics

This study tested the association of protein C 673 T/C (rs2069912) with severe sepsis mortality in 100 North American patients of East Asian ancestry, replicating findings from a Chinese population. The C allele was associated with decreased 28-day survival (47% for CC/CT vs 56% for TT, P=0.035) and reduced days alive free of coagulation dysfunction (P=0.038), with a hazard ratio of 2.0 (95% CI 1.05-3.81) for mortality in Cox regression.

Traits studied:Coagulation dysfunctionOrgan dysfunctionSevere sepsis mortality

PubMed DOI Metascience Observatory

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Association of warfarin dose with genes involved in its action and metabolism

AssociationN=201Mia Wadelius et al.(2007)· Human Genetics

An association study of 201 warfarin-treated patients found that polymorphisms in VKORC1, CYP2C9, CYP2C18, CYP2C19, PROC, and APOE were significantly associated with warfarin dose requirement (P < 0.000175 for VKORC1 and CYP2C9). A multiple regression model incorporating VKORC1, CYP2C9, PROC, and non-genetic factors (age, bodyweight, drug interactions, treatment indication) accounted for 62% of the variance in warfarin dose.

Traits studied:Warfarin dose requirement

PubMed DOI Metascience Observatory

About PROC

This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]