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WCMC

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

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Locus annotations

Locus 406

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ESAM cis Discovery rs11219769 11:124,620,147 G/T 0.25 995 -0.335 0.048 7.8×10-12 -1.040 4.4×10-11 2.4×10-9
ESAM cis Replication rs12541 11:124,623,492 A/G 0.25 337 -0.289 0.058 1.1×10-6 -1.080 1.7×10-5 0.004

 

Regional association plots

Endothelial cell-selective adhesion molecule (ESAM)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Endothelial cell-selective adhesion molecule (ESAM)

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

Endothelial cell-selective adhesion molecule (ESAM)

Target (abbrv.) ESAM
Target (full name) Endothelial cell-selective adhesion molecule
Somalogic ID (Sequence ID) SL005160 (2981-9_3)
Entrez Gene Symbol ESAM
UniProt ID Q96AP7
UniProt Comment
  • Can mediate aggregation most likely through a homophilic molecular interaction.
Reactome
  • Cell surface interactions at the vascular wall

All locus annotations are based on the sentinel SNP (rs11219769) and 1 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


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Genes hit or close-by
  • RP11-677M14.2
  • VSIG2 V-set and immunoglobulin domain containing 2
  • NRGN neurogranin (protein kinase C substrate, RC3)
  • ESAM endothelial cell adhesion molecule
eQTL genes
  • VSIG2 V-set and immunoglobulin domain containing 2
  • MSANTD2 Myb/SANT-like DNA-binding domain containing 2

 

Results from other genome-wide association studies

Trait P Study Source
Schizophrenia 1.6×10-8 25056061 (PMID) Supplemental file
RNP with Anti-Sm autoantibody status in systemic lupus erythematosus (SLE) patients 2.1×10-4 20659327 (PMID) GRASP2 nonQTL