Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs867186

Hard Link
rs867186 is a snp on gene PROCR (protein C receptor, endothelial)

GenePROCR Chromosome number Chromosome position
Alleles (transliterated to +) Minor Allele Minor Allele Frequency
Notation A>G Clinical significance Orientation (dbSNP) - (negative/reverse strand)
SNP Function
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]
Gene Function
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]
GWAS Pathologies
Hemostatic factors and hematological phenotypes (G) ~ Hemostatic factors and hematological phenotypes (?) ~ Hemostatic factors and hematological phenotypes (?) ~ Hemostatic factors and hematological phenotypes (?) ~ Anticoagulant levels (G) ~ D-dimer levels (G) ~ Protein C levels (C) ~ Coagulation factor levels (G)
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




DSL/ Opus Chip

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

CURATED





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