HelmholtzZentrum munich
WCMC

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

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Locus annotations

Locus 444

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
SAP cis Discovery rs12079353 1:159,554,607 C/A 0.02 994 -0.868 0.131 6.3×10-11 -1.200 2.2×10-11 6.9×10-11
SAP cis Replication rs12079353 1:159,554,607 C/A 0.06 337 -0.466 0.156 0.003 -1.090 0.006 0.004

 

Regional association plots

 

Boxplots and histograms for top associations

Serum amyloid P-component (SAP)

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

Serum amyloid P-component (SAP)

Target (abbrv.) SAP
Target (full name) Serum amyloid P-component
Somalogic ID (Sequence ID) SL000573 (2474-54_5)
Entrez Gene Symbol APCS
UniProt ID P02743
UniProt Comment
  • Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells. May also function as a calcium-dependent lectin.
Biomarker applications (based on IPA annotation)
  • unspecified application
Reactome
  • Amyloids

All locus annotations are based on the sentinel SNP (rs12079353) and 46 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

Genes hit or close-by
  • RP11-740C1.2
  • OR10AE1P olfactory receptor, family 10, subfamily AE, member 1 pseudogene
  • APCS amyloid P component, serum
  • OR10J6P olfactory receptor, family 10, subfamily J, member 6 pseudogene
Potentially regulated genes
  • OR10J2P olfactory receptor, family 10, subfamily J, member 2 pseudogene
  • OR10J1 olfactory receptor, family 10, subfamily J, member 1
  • OR10J8P olfactory receptor, family 10, subfamily J, member 8 pseudogene
  • OR10J5 olfactory receptor, family 10, subfamily J, member 5
  • RP11-550P17.5
  • OR10J6P olfactory receptor, family 10, subfamily J, member 6 pseudogene
  • SLAMF8 SLAM family member 8
  • CADM3 cell adhesion molecule 3
  • APCS amyloid P component, serum
  • IGSF8 immunoglobulin superfamily, member 8
eQTL genes
  • CXCL10 chemokine (C-X-C motif) ligand 10
  • CXCL11 chemokine (C-X-C motif) ligand 11

 

Results from other genome-wide association studies

Trait P Study Source
Serum concentration of kynurenine 4.7×10-4 21886157 (PMID) GRASP2 metabQTL