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

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Locus annotations

Locus 310

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
CD23 cis Discovery rs11260013 19:7,759,676 C/T 0.49 994 -0.328 0.043 3.9×10-14 -1.100 6.2×10-13 3.2×10-11
CD23 cis Replication rs11260013 19:7,759,676 A/G 0.45 337 0.358 0.061 9.1×10-9 1.160 4.5×10-9 7×10-8

 

Regional association plots

Low affinity immunoglobulin epsilon Fc receptor (CD23)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Low affinity immunoglobulin epsilon Fc receptor (CD23)

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

Low affinity immunoglobulin epsilon Fc receptor (CD23)

Target (abbrv.) CD23
Target (full name) Low affinity immunoglobulin epsilon Fc receptor
Somalogic ID (Sequence ID) SL002706 (3291-30_2)
Entrez Gene Symbol FCER2
UniProt ID P06734
UniProt Comment
  • Low-affinity receptor for immunoglobulin E (IgE) and CR2/CD21. Has essential roles in the regulation of IgE production and in the differentiation of B-cells (it is a B-cell-specific antigen).
Biomarker applications (based on IPA annotation)
  • diagnosis
Pathway Interaction Database
  • IL4-mediated signaling events
Reactome
  • NOTCH2 intracellular domain regulates transcription

All locus annotations are based on the sentinel SNP (rs11260013) and 12 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
  • FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23)
Potentially regulated genes
  • CCL25 chemokine (C-C motif) ligand 25
eQTL genes
  • FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23)

 

Results from other genome-wide association studies


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No associations available.