HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 75

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
kallikrein 12 cis Discovery rs8103941 19:51,546,852 A/G 0.25 996 0.739 0.047 5.3×10-50 1.230 2.7×10-47 1.7×10-25
kallikrein 12 cis Replication rs8111766 19:51,540,228 A/C 0.15 337 0.470 0.103 6.6×10-6 1.170 2.9×10-6 3.6×10-6

 

Regional association plots

 

Boxplots and histograms for top associations

Kallikrein-12 (kallikrein 12)

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

Kallikrein-12 (kallikrein 12)

Target (abbrv.) kallikrein 12
Target (full name) Kallikrein-12
Somalogic ID (Sequence ID) SL003916 (3199-54_2)
Entrez Gene Symbol KLK12
UniProt ID Q9UKR0
UniProt Comment
  • Secreted

All locus annotations are based on the sentinel SNP (rs8103941) and 16 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

 

Results from other genome-wide association studies

Trait P Study Source
cg15652303 (chr19:51534112) 2.8×10-8 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
dihomo-linolenate (20:3n3 or n6) 7×10-5 24816252 (PMID) gwas.eu via SNiPA