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WCMC

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

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Locus annotations

Locus 247

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IL-18 Ra cis Discovery rs2871473 2:103,107,280 A/C 0.18 994 -0.464 0.055 1.4×10-16 -1.110 2.6×10-15 6.6×10-8
IL-18 Ra cis Replication rs2871473 2:103,107,280 A/C 0.25 337 -0.179 0.063 0.005 -1.070 0.002 0.003

 

Regional association plots

Interleukin-18 receptor 1 (IL-18 Ra)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Interleukin-18 receptor 1 (IL-18 Ra)

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

Interleukin-18 receptor 1 (IL-18 Ra)

Target (abbrv.) IL-18 Ra
Target (full name) Interleukin-18 receptor 1
Somalogic ID (Sequence ID) SL004152 (3446-7_2)
Entrez Gene Symbol IL18R1
UniProt ID Q13478
UniProt Comment
  • Receptor for interleukin 18 (IL-18). Binding to the agonist leads to the activation of NF-kappa-B.
Pathway Interaction Database
  • IL12 signaling mediated by STAT4
  • IL12-mediated signaling events
  • IL23-mediated signaling events
Pathway Studio
  • Th1 Cell Differentiation

All locus annotations are based on the sentinel SNP (rs2871473) and 4 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
  • SLC9A4 solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4