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WCMC

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

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Locus annotations

Locus 177

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Properdin trans Discovery rs7529589 1:196,658,279 C/T 0.38 993 -0.425 0.043 2.4×10-22 -1.070 4.7×10-21 3.5×10-22
Properdin trans Replication rs1061147 1:196,654,324 C/A 0.33 337 -0.277 0.076 3×10-4 -1.080 0.004 1.9×10-4

 

Regional association plots

 

Boxplots and histograms for top associations

Properdin

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

Properdin

Target (abbrv.) Properdin
Target (full name) Properdin
Somalogic ID (Sequence ID) SL003192 (2960-66_2)
Entrez Gene Symbol CFP
UniProt ID P27918
UniProt Comment
  • A positive regulator of the alternate pathway of complement. It binds to and stabilizes the C3- and C5-convertase enzyme complexes.
Reactome
  • Activation of C3 and C5
  • Alternative complement activation
  • O-glycosylation of TSR domain-containing proteins
  • Regulation of Complement cascade
Pathway Studio
  • Alternative Complement Pathway

All locus annotations are based on the sentinel SNP (rs7529589) and 77 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
  • CFH complement factor H