rs1799810

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

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GWAS Catalog Trait Associations (4)

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

vitamin K-dependent protein C measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.14
p 1.0e-245
N 47,745
Large GWAS
European
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.16
p 8.0e-32
N 10,708
Large GWAS
European
Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele T
OR 0.29
p 2.0e-28
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

protein C measurement

Pankow JS et al. “Identification of Genetic Variants Linking Protein C and Lipoprotein Metabolism: The ARIC Study (Atherosclerosis Risk in Communities).” Arteriosclerosis, Thrombosis, and Vascular Biology 37(3):589-597 (2017)
Allele T
OR 0.12
p 2.0e-42
N 13,484
CohortLarge GWAS
multi-ancestry

venous thromboembolism

Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele T
OR 0.07
p 8.0e-15
N 1,063,277
Meta-analysisLarge GWAS
multi-ancestry

blood protein amount

Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele A
OR 0.17
p 2.0e-12
N 3,200
Large GWAS
European
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ClinVar annotation

Benign★★★☆
8 submitters2 publications

Thrombophilia due to protein C deficiency, autosomal dominant; not specified

View on ClinVar →
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Research that mentions this SNP (2)

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Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study
AssociationN=2,701Munir MS et al.(2014)· Genetic Epidemiology

Genome-wide association study of plasma protein C levels in 2,701 African Americans from the ARIC study identified 79 genome-wide significant SNPs in two regions (2q14 and 20q11). The top signal was rs867186 (missense, S219G in PROCR; p=9.84×10⁻⁶⁵, β=0.49 µg/ml, 10% variance explained). Additional significant hits were rs7580658 and rs1799808 near the PROC gene, and novel associations with CYP27C1 and MYO7B were discovered.

Traits studied:Anticoagulant levelsPlasma protein C level
PubMedDOIMetascience Observatory
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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
PubMedDOIMetascience 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]

View all PROC variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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