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WCMC

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

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Locus annotations

Locus 219

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
SIG14 cis Discovery rs6509558 19:52,127,949 C/T 0.31 994 0.419 0.047 2.2×10-18 1.250 1.7×10-15 8.3×10-20

 

Regional association plots

Sialic acid-binding Ig-like lectin 14 (SIG14)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Sialic acid-binding Ig-like lectin 14 (SIG14)

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

Sialic acid-binding Ig-like lectin 14 (SIG14)

Target (abbrv.) SIG14
Target (full name) Sialic acid-binding Ig-like lectin 14
Somalogic ID (Sequence ID) SL014292 (5125-6_3)
Entrez Gene Symbol SIGLEC14
UniProt ID Q08ET2
UniProt Comment
  • Putative adhesion molecule. Sialic acid-binding paired receptor which may activate associated receptors.
Reactome
  • DAP12 interactions

All locus annotations are based on the sentinel SNP (rs6509558) and 3 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
eQTL genes
  • SIGLEC14 sialic acid binding Ig-like lectin 14

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of CD33 in Fibroblasts 3.9×10-7 19644074 (PMID) GRASP2 eQTL
cg12530021 (chr19:52004606) 2.4×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs