HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
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)

 

Results from other genome-wide association studies

Trait P Study Source
Serum ratio of (adrenate (22:4n6))/(oleate (18:1n9)) 8.7×10-5 21886157 (PMID) GRASP2 metabQTL