HelmholtzZentrum munich
WCMC

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

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Locus annotations

Locus 243

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 rs4938330 11:116,928,514 C/G 0.22 997 -0.428 0.051 9.9×10-17 -1.110 4.4×10-14 5×10-7
PCSK7 cis Replication rs4388921 11:116,976,778 A/G 0.36 337 -0.291 0.070 4.6×10-5 -1.090 0.001 0.028

 

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 (rs4938330) and 62 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
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
cg06928797 (chr11:116966675) 1.4×10-49 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of TAGLN///PCSK7 in blood 7.8×10-23 21829388 (PMID) GRASP2 eQTL
cg01546793 (chr11:116913696) 2.7×10-14 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
HDL cholesterol 2.9×10-13 24097068 (PMID) Supplemental file
Gene expression of TAGLN in peripheral blood monocytes 8.4×10-13 20502693 (PMID) GRASP2 eQTL
Gene expression of PCSK7 in peripheral blood monocytes 2.1×10-6 20502693 (PMID) GRASP2 eQTL
Total cholesterol 3.3×10-6 20686565 (PMID) GRASP2 nonQTL
Height 5×10-6 25282103 (PMID) Supplemental file
Triglycerides 1.8×10-5 24097068 (PMID) Supplemental file
Cholesterol, hdl 9.3×10-5 pha003074 (dbGaP) dbGaP via SNiPA
Gene expression of SIDT2 in blood 2.9×10-4 21829388 (PMID) GRASP2 eQTL
Waist circumfence, adjusted for BMI 4.1×10-4 25673412 (PMID) Supplemental file