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WCMC

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

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Locus annotations

Locus 39

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 rs7250849 19:52,158,316 G/T 0.12 994 -1.230 0.058 4.3×10-82 -2.110 8.8×10-91 4.7×10-91
SIG14 cis Replication rs7250849 19:52,158,316 C/A 0.11 337 -0.579 0.097 6×10-9 -1.510 4.7×10-7 2×10-8

 

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
Replication 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 (rs7250849) 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
  • SIGLEC5 sialic acid binding Ig-like lectin 5
  • RPL7P51 ribosomal protein L7 pseudogene 51

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of SIGLEC5 in peripheral blood monocytes 2.3×10-9 20502693 (PMID) GRASP2 eQTL
SIGLEC5 gene expression 5.5×10-6 21798870 (PMID) GRASP2 eQTL
Inflammatory bowel disease 4.3×10-4 Supplemental file