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WCMC

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

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Locus annotations

Locus 96

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Coagulation Factor XI trans Discovery rs5030062 3:186,454,180 A/C 0.39 996 0.558 0.040 3×10-40 1.100 1.1×10-37 3.4×10-33
Coagulation Factor XI trans Replication rs710446 3:186,459,927 A/G 0.43 337 0.538 0.070 1.7×10-13 1.120 9.1×10-11 4.2×10-7
Prekallikrein trans Discovery rs5030062 3:186,454,180 A/C 0.39 996 0.519 0.040 1.8×10-35 1.080 5.7×10-27 4.4×10-34
Prekallikrein trans Replication rs5030062 3:186,454,180 A/C 0.38 337 0.444 0.070 8×10-10 1.100 2.4×10-9 1.1×10-9

 

Regional association plots

 

Boxplots and histograms for top associations

Coagulation Factor XI

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

Plasma kallikrein (Prekallikrein)

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

Coagulation Factor XI

Target (abbrv.) Coagulation Factor XI
Target (full name) Coagulation Factor XI
Somalogic ID (Sequence ID) SL002662 (2190-55_1)
Entrez Gene Symbol F11
UniProt ID P03951
UniProt Comment
  • Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX.
Wiki Pathways
  • Blood Clotting Cascade
Reactome
  • Intrinsic Pathway of Fibrin Clot Formation
Pathway Studio
  • Coagulation Cascade

Plasma kallikrein (Prekallikrein)

Target (abbrv.) Prekallikrein
Target (full name) Plasma kallikrein
Somalogic ID (Sequence ID) SL000545 (4152-58_2)
Entrez Gene Symbol KLKB1
UniProt ID P03952
UniProt Comment
  • The enzyme cleaves Lys-Arg and Arg-Ser bonds. It activates, in a reciprocal reaction, factor XII after its binding to a negatively charged surface. It also releases bradykinin from HMW kininogen and may also play a role in the renin-angiotensin system by converting prorenin into renin.
Targeted by drugs (based on IPA annotation)
  • aprotinin
  • ecallantide
Reactome
  • Activation of Matrix Metalloproteinases
  • Intrinsic Pathway of Fibrin Clot Formation
Pathway Studio
  • Coagulation Cascade

All locus annotations are based on the sentinel SNP (rs5030062) 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