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

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Locus annotations

Locus 220

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Contactin-5 cis Discovery rs1461672 11:99,175,378 C/T 0.06 995 0.734 0.082 2.2×10-18 1.150 9.9×10-13 6.6×10-5
Contactin-5 cis Replication rs2100831 11:99,169,833 A/G 0.05 337 0.311 0.136 0.023 1.050 0.093 0.269

 

Regional association plots

 

Boxplots and histograms for top associations

Contactin-5

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

Contactin-5

Target (abbrv.) Contactin-5
Target (full name) Contactin-5
Somalogic ID (Sequence ID) SL010455 (3299-29_2)
Entrez Gene Symbol CNTN5
UniProt ID O94779
UniProt Comment
  • Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity in the cerebral cortical neurons but not in hippocampal neurons. Probably involved in neuronal activity in the auditory system (By similarity).

All locus annotations are based on the sentinel SNP (rs1461672) and 38 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
2-hydroxyisobutyrate 9.9×10-7 24816252 (PMID) gwas.eu via SNiPA
Diabetic nephropathy in type 2 diabetes mellitus - end stage renal disease 2.6×10-4 21150874 (PMID) GRASP2 nonQTL