HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 451

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 rs10135681 14:95,007,744 T/C 0.40 997 0.277 0.042 8.4×10-11 1.040 2.6×10-10 8.1×10-11
Kallistatin cis Replication rs10135681 14:95,007,744 A/G 0.38 337 0.007 0.075 0.929 1.000 0.976 0.986

 

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 (rs10135681).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

 

Results from other genome-wide association studies

Trait P Study Source
Height 2.7×10-4 25282103 (PMID) Supplemental file