HelmholtzZentrum munich
WCMC

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

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Locus annotations

Locus 317

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
PCSK7 cis Discovery rs7083 11:117,156,552 C/T 0.41 996 0.332 0.044 6.3×10-14 1.090 9×10-12 2.2×10-5
PCSK7 cis Replication rs535602 11:117,107,775 G/A 0.19 337 0.343 0.090 1.7×10-4 1.130 2.1×10-4 0.001

 

Regional association plots

Proprotein convertase subtilisin/kexin type 7 (PCSK7)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Proprotein convertase subtilisin/kexin type 7 (PCSK7)

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

Proprotein convertase subtilisin/kexin type 7 (PCSK7)

Target (abbrv.) PCSK7
Target (full name) Proprotein convertase subtilisin/kexin type 7
Somalogic ID (Sequence ID) SL014069 (4459-68_2)
Entrez Gene Symbol PCSK7
UniProt ID Q16549
UniProt Comment
  • Likely to represent a ubiquitous endoprotease activity within constitutive secretory pathways and capable of cleavage at the RXXX[KR]R consensus motif.
Biomarker applications (based on IPA annotation)
  • unspecified application

All locus annotations are based on the sentinel SNP (rs7083) and 39 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