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

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Locus annotations

Locus 265

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Kallikrein 7 cis Discovery rs2659067 19:51,485,622 G/A 0.09 994 -0.598 0.074 1.2×10-15 -1.170 3.6×10-14 3.7×10-8
Kallikrein 7 cis Replication rs1654523 19:51,485,194 A/G 0.10 337 -0.412 0.117 5×10-4 -1.180 0.001 0.057

 

Regional association plots

 

Boxplots and histograms for top associations

Kallikrein-7 (Kallikrein 7)

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

Kallikrein-7 (Kallikrein 7)

Target (abbrv.) Kallikrein 7
Target (full name) Kallikrein-7
Somalogic ID (Sequence ID) SL000064 (3378-49_2)
Entrez Gene Symbol KLK7
UniProt ID P49862
UniProt Comment
  • May catalyze the degradation of intercellular cohesive structures in the cornified layer of the skin in the continuous shedding of cells from the skin surface. Specific for amino acid residues with aromatic side chains in the P1 position. Cleaves insulin A chain at '14-Tyr-|-Gln-15' and insulin B chain at '6-Leu-|-Cys-7', '16-Tyr-|-Leu-17', '25-Phe-|-Tyr-26' and '26-Tyr-|-Thr-27'. Could play a role in the activation of precursors to inflammatory cytokines.
Biomarker applications (based on IPA annotation)
  • diagnosis
Reactome
  • Degradation of the extracellular matrix

All locus annotations are based on the sentinel SNP (rs2659067) and 5 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
Potentially regulated genes
  • KLK7 kallikrein-related peptidase 7
eQTL genes
  • KLK7 kallikrein-related peptidase 7

 

Results from other genome-wide association studies


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No associations available.