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rs867186

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal risk for VTE
(A;G) EPCR H3 haplotype; reduced or increased risk of VTE?
(G;G) EPCR H3 diplotype; reduced or increased risk of VTE?
(T;T) 0
ReferenceGRCh38 38.1/141
Chromosome20
Position35176751
GenePROCR
is asnp
is mentioned by
dbSNPrs867186
ebirs867186
HLIrs867186
Exacrs867186
Varsomers867186
Maprs867186
PheGenIrs867186
hapmaprs867186
1000 genomesrs867186
hgdprs867186
ensemblrs867186
gopubmedrs867186
geneviewrs867186
scholarrs867186
googlers867186
pharmgkbrs867186
gwascentralrs867186
openSNPrs867186
23andMers867186
23andMe allrs867186
SNP Nexus

SNPshotrs867186
SNPdbers867186
MSV3drs867186
GWAS Ctlgrs867186
GMAF0.08402
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs867186 is a SNP that can indicate haplotype H3 of the EPCR gene. The protein product of the EPCR gene activates a part of the anticoagulation pathway. While the rs867186(A) allele could indicate haplotypes H1, H2 or H4, the rs867186(G) allele distinctly tags (identifies) the H3 haplotype.[PMID 17849044]

While most groups studying EPCR H3 agree that it leads to increased soluble EPCR, and thus should theoretically lead to reduced risk for venous thromboembolism, different groups come to different conclusions about the effect in the populations each studies. Two find no association [PMID 15304035, PMID 15116250] while one finds that the H3 haplotype (and thus rs867186(G)) actually increases the risk of venous thromboembolism (VTE), with an odds ratio of 1.80, p=0.004.[PMID 14576048]

Neighborrs9574
Distance78
GWAS snp
PMID [PMID 20231535OA-icon.png]
Trait Plasma coagulation factors
Title Novel Associations of Multiple Genetic Loci With Plasma Levels of Factor VII, Factor VIII, and von Willebrand Factor. The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium
Risk Allele G
P-val 6E-37
Odds Ratio None None
GWAS snp
PMID [PMID 20802025OA-icon.png]
Trait
Title Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study
Risk Allele C
P-val 0
Odds Ratio 0.47 [0.44-0.50] ug/ml increase
GWAS snp
PMID [PMID 21502573OA-icon.png]
Trait
Title Genetic predictors of fibrin D-dimer levels in healthy adults.
Risk Allele G
P-val 0.000004
Odds Ratio 0.0484 [NR] % increase
GWAS snp
PMID [PMID 22216198OA-icon.png]
Trait
Title A genome-wide association study of the Protein C anticoagulant pathway.
Risk Allele G
P-val 4E-9
Odds Ratio 0.8450 None


[PMID 22443383] Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project


[PMID 16846490OA-icon.png] Lemierre's syndrome and genetic polymorphisms: a case report.


[PMID 18680534OA-icon.png] PROC, PROCR and PROS1 polymorphisms, plasma anticoagulant phenotypes, and risk of cardiovascular disease and mortality in older adults: the Cardiovascular Health Study.


[PMID 18947391OA-icon.png] Hemostasis and ageing.


[PMID 22251481OA-icon.png] The endothelial protein C receptor (PROCR) Ser219Gly variant and risk of common thrombotic disorders: a HuGE review and meta-analysis of evidence from observational studies.


GET Evidence
PROCR-S219G
aa_change Ser219Gly
aa_change_short S219G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0995538
summary



[PMID 23136988OA-icon.png] Association of soluble endothelial protein C receptor plasma levels and PROCR rs867186 with cardiovascular risk factors and cardiovascular events in coronary artery disease patients: The AtheroGene Study


[PMID 24635948OA-icon.png] Association of the endothelial protein C receptor (PROCR) rs867186-G allele with protection from severe malaria


[PMID 25376901] Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study


[PMID 24816905OA-icon.png] Single nucleotide variants in the protein C pathway and mortality in dialysis patients


[PMID 27882376] Plasma levels of the anti-coagulation protein C and the risk of ischaemic heart disease. A Mendelian randomisation study.