rs867186

This is a protein-altering variant in the PROCR gene.

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GWAS Catalog Trait Associations (11)

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

level of endothelial protein C receptor in blood serum

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele G
OR 1.68
p 8.0e-75
N 466
Small GWAS
African American or Afro-Caribbean

vitamin K-dependent protein C measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele G
OR 0.84
p 5.0e-38
N 997
Small GWAS
multi-ancestry

activated protein C measurement

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele G
OR 0.80
p 1.0e-12
N 466
Small GWAS
African American or Afro-Caribbean

myocardial infarction

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.09
p 9.0e-12
N 315,668
Major Consortium StudyLarge GWAS
European

venous thromboembolism

Lindström S et al. “Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.” Blood 134(19):1645-1657 (2019)
Allele G
OR 1.11
p 7.0e-9
N 202,356
Large GWAS
multi-ancestry

diastolic blood pressure

Surendran P et al. “Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.” Nature Genetics 48(10):1151-1161 (2016)
Allele A
OR 0.23
p 4.0e-8
N 192,763
Large GWAS
multi-ancestry

coronary artery disease

van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)
Allele A
OR 0.06
p 7.0e-12
N 547,261
Large GWAS

factor VII measurement

de Vries PS et al. “A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology.” Blood 133(9):967-977 (2019)
Allele G
OR —
β 0.053
p 7.0e-64
N 27,495
Large GWAS
multi-ancestry

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 C
OR 0.44
p 6.0e-57
N 13,484
CohortLarge GWAS
multi-ancestry
Tang W et al. “Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.” Blood 116(23):5032-6 (2010)
Allele C
OR 0.47
p 2.0e-200
N 8,048
CohortLarge GWAS
European
Munir MS et al. “Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study” Genetic Epidemiology (2014)
Allele C
OR 0.49
p 1.0e-64
N 2,701
CohortLarge GWAS
African American or Afro-Caribbean
Athanasiadis G et al. “A genome-wide association study of the Protein C anticoagulant pathway.” Plos One 6(12):e29168 (2011)
Allele C
OR 0.84
p 4.0e-9
N 418
Small GWAS
European
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Research that mentions this SNP (2)

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Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization study
Meta-analysisN=60,139Sara Lindström et al.(2017)· Human Genetics

Mendelian Randomization study examining the causal relationship between obesity (BMI) and venous thromboembolism using 95 BMI-associated SNPs in 7,507 VTE cases and 52,632 European ancestry controls. FTO rs1558902 showed the strongest individual association with VTE (OR 1.07, P = 0.005), and genetically predicted high BMI was significantly associated with increased VTE risk (OR 1.59 per SD increase in BMI, P = 5.8 × 10^-6), providing evidence for a causal relationship between obesity and VTE.

Traits studied:Body mass indexDeep vein thrombosisObesityPulmonary embolismVenous thromboembolism
PubMedDOIMetascience Observatory
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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

About PROCR

The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. The encoded protein may also play a role in malarial infection and has been associated with cancer. [provided by RefSeq, Jul 2013]

View all PROCR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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