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WCMC

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

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Locus annotations

Locus 251

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IL-23 R cis Discovery rs11209026 1:67,705,958 G/A 0.06 996 -0.742 0.089 3.4×10-16 -1.190 1.4×10-13 1.3×10-6
IL-23 R cis Replication rs9988642 1:67,726,104 A/G 0.09 337 -0.001 0.105 0.989 -1.010 0.85 0.767

 

Regional association plots

 

Boxplots and histograms for top associations

Interleukin-23 receptor (IL-23 R)

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

Interleukin-23 receptor (IL-23 R)

Target (abbrv.) IL-23 R
Target (full name) Interleukin-23 receptor
Somalogic ID (Sequence ID) SL005185 (5088-175_3)
Entrez Gene Symbol IL23R
UniProt ID Q5VWK5
UniProt Comment
  • Associates with IL12RB1 to form the interleukin-23 receptor. Binds IL23 and mediates T-cells, NK cells and possibly certain macrophage/myeloid cells stimulation probably through activation of the Jak-Stat signaling cascade. IL23 functions in innate and adaptive immunity and may participate in acute response to infection in peripheral tissues. IL23 may be responsible for autoimmune inflammatory diseases and be important for tumorigenesis.
Pathway Interaction Database
  • IL23-mediated signaling events
Pathway Studio
  • Th17 Cell Differentiation

All locus annotations are based on the sentinel SNP (rs11209026) and 25 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