HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 234

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
EDAR cis Discovery rs260692 2:109,581,319 C/T 0.06 997 0.786 0.091 2.1×10-17 1.390 3.1×10-22 9.2×10-18
EDAR cis Replication rs260687 2:109,578,855 A/G 0.26 337 0.083 0.063 0.187 1.060 0.078 0.025

 

Regional association plots

Tumor necrosis factor receptor superfamily member EDAR (EDAR)

 

Boxplots and histograms for top associations

Tumor necrosis factor receptor superfamily member EDAR (EDAR)

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

Tumor necrosis factor receptor superfamily member EDAR (EDAR)

Target (abbrv.) EDAR
Target (full name) Tumor necrosis factor receptor superfamily member EDAR
Somalogic ID (Sequence ID) SL004872 (2977-7_2)
Entrez Gene Symbol EDAR
UniProt ID Q9UNE0
UniProt Comment
  • Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death.
Wiki Pathways
  • Integrated Breast Cancer Pathway
Pathway Studio
  • Apoptosis
  • EctodysplasinR → AP-1 signaling
  • EctodysplasinR → LEF1 signaling
  • EctodysplasinR → NF-kB signaling

All locus annotations are based on the sentinel SNP (rs260692) and 13 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
  • EDAR ectodysplasin A receptor

 

Results from other genome-wide association studies

No associations available.