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

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Locus annotations

Locus 172

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 rs9332701 1:169,484,767 A/G 0.04 987 -1.166 0.113 1.2×10-23 -1.260 1.5×10-24 2.3×10-23

 

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

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 (rs9332701) and 1 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


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

 

Results from other genome-wide association studies

Trait P Study Source
Activated partial thromboplastin time 3.7×10-8 22703881 (PMID) GRASP2 nonQTL