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WCMC

Connecting genetic risk to disease endpoints through the human blood plasma proteome

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Locus annotations

Locus 165

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Coagulation Factor V cis Discovery rs6033 1:169,521,853 A/G 0.08 997 -0.845 0.080 5.5×10-25 -1.170 7.9×10-24 1.8×10-24
Coagulation Factor V cis Replication rs6033 1:169,521,853 A/G 0.09 337 -0.819 0.127 4.5×10-10 -1.140 1.1×10-7 3.4×10-8

 

Regional association plots

 

Boxplots and histograms for top associations

Coagulation Factor V

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study
Replication study

Coagulation Factor V

Target (abbrv.) Coagulation Factor V
Target (full name) Coagulation Factor V
Somalogic ID (Sequence ID) SL000622 (4906-35_1)
Entrez Gene Symbol F5
UniProt ID P12259
UniProt Comment
  • Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin.
Targeted by drugs (based on IPA annotation)
  • drotrecogin alfa
  • antithrombin alfa
Biomarker applications (based on IPA annotation)
  • diagnosis
Wiki Pathways
  • Blood Clotting Cascade
  • Complement and Coagulation Cascades
Reactome
  • Common Pathway of Fibrin Clot Formation
  • Platelet degranulation
Pathway Studio
  • Coagulation Cascade

All locus annotations are based on the sentinel SNP (rs6033) and 8 proxy variant(s) that is/are in linkage disequilibrium r2 ≥ 0.8. Linkage disequilibrium is based on data from the 1000 Genomes Project, phase 3 version 5, European population and was retrieved using SNiPA's Block Annotation feature.
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
  • F5 coagulation factor V (proaccelerin, labile factor)