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

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Locus annotations

Locus 434

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
CNTN2 cis Discovery rs2246662 1:204,943,947 C/A 0.39 995 0.299 0.045 4.5×10-11 1.090 2.7×10-11 1.6×10-9
CNTN2 cis Replication rs2246662 1:204,943,947 C/A 0.46 337 0.169 0.053 0.001 1.070 0.003 0.132

 

Regional association plots

 

Boxplots and histograms for top associations

Contactin-2 (CNTN2)

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

Contactin-2 (CNTN2)

Target (abbrv.) CNTN2
Target (full name) Contactin-2
Somalogic ID (Sequence ID) SL008623 (3296-92_2)
Entrez Gene Symbol CNTN2
UniProt ID Q02246
UniProt Comment
  • In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion.
Reactome
  • L1CAM interactions
  • NCAM1 interactions
  • NrCAM interactions

All locus annotations are based on the sentinel SNP (rs2246662) 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

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of CNTN2 (probeID ILMN_1718896) in cerebellum in Alzheimer's disease cases and controls 9.1×10-5 22685416 (PMID) GRASP2 eQTL