rs200045749

This variant is located in the PROC gene.

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GWAS Catalog Trait Associations (3)

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

blood coagulation disease

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 C
OR 0.68
p 2.0e-11
N 617,206
Major Consortium StudyLarge GWAS
multi-ancestry

drug use measurement, deep vein thrombosis

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 C
OR 0.83
p 3.0e-11
N 400,487
Major Consortium StudyLarge GWAS
multi-ancestry

encounter with health service

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 C
OR 0.60
p 4.0e-17
N 119,585
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
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ClinVar annotation

Likely Benign★★★☆
6 submitters2 publications

Thrombophilia due to protein C deficiency, autosomal dominant; Reduced protein C activity; PROC-related disorder; not specified

View on ClinVar →

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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