HelmholtzZentrum munich

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


Proteome annotation
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)


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
eQTL genes
  • RNF214 ring finger protein 214
  • RP11-109L13.1
  • PCSK7 proprotein convertase subtilisin/kexin type 7
  • TAGLN transgelin
  • SIDT2 SID1 transmembrane family, member 2
  • BACE1 beta-site APP-cleaving enzyme 1


Results from other genome-wide association studies

Trait P Study Source
Gene expression of TAGLN in peripheral blood monocytes 2×10-23 20502693 (PMID) GRASP2 eQTL
Gene expression of TAGLN///PCSK7 in blood 7.5×10-20 21829388 (PMID) GRASP2 eQTL
Gene expression of SIDT2 in peripheral blood monocytes 1.2×10-18 20502693 (PMID) GRASP2 eQTL
"Gene expression of BACE1 [transcript NM_138972, probe A_23_P52806] in liver" 2×10-16 21637794 (PMID) GRASP2 eQTL
Gene expression of SIDT2 in blood 2.7×10-8 21829388 (PMID) GRASP2 eQTL
Gene expression of BACE1 in liver 1.3×10-5 18462017 (PMID) GRASP2 eQTL
Triglycerides 4.9×10-5 24097068 (PMID) Supplemental file
Total cholesterol 6.2×10-5 20686565 (PMID) GRASP2 nonQTL
Parkinson's disease 2.7×10-4 22451204 (PMID) GRASP2 nonQTL
HDL cholesterol 3×10-4 20686565 (PMID) GRASP2 nonQTL