rs1799808
This is a regulatory region variant variant in the PROC gene.
▶ClinVar annotation
Thrombophilia due to protein C deficiency, autosomal dominant
View on ClinVar →▶Research that mentions this SNP (2)
▶Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) StudyAssociationN=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.
▶Protein C rs2069912 C allele is associated with increased mortality from severe sepsis in North Americans of East Asian ancestryAssociationN=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.
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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