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WCMC

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

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Locus annotations

Locus 81

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Kallistatin cis Discovery rs882732 14:95,027,722 G/A 0.25 996 0.667 0.043 7.7×10-48 1.090 9.2×10-41 3.5×10-46
Kallistatin cis Replication rs10149354 14:95,038,368 G/A 0.27 337 0.709 0.068 3.2×10-22 1.130 6.6×10-22 8.2×10-23

 

Regional association plots

 

Boxplots and histograms for top associations

Kallistatin

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

Kallistatin

Target (abbrv.) Kallistatin
Target (full name) Kallistatin
Somalogic ID (Sequence ID) SL004876 (3449-58_2)
Entrez Gene Symbol SERPINA4
UniProt ID P29622
UniProt Comment
  • Inhibits human amidolytic and kininogenase activities of tissue kallikrein. Inhibition is achieved by formation of an equimolar, heat- and SDS-stable complex between the inhibitor and the enzyme, and generation of a small C-terminal fragment of the inhibitor due to cleavage at the reactive site by tissue kallikrein.

All locus annotations are based on the sentinel SNP (rs882732) and 20 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
  • SERPINA4 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4
  • SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5
eQTL genes
  • SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5
  • SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
  • SERPINA3

 

Results from other genome-wide association studies

Trait P Study Source
cg14075413 (chr14:95028129) 4.3×10-33 10.1101/033084 (DOI) BIOS QTL cis-meQTLs