HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 280

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
CNDP1 cis Discovery rs17817077 18:72,209,543 G/A 0.41 995 0.350 0.044 4.7×10-15 1.100 7.4×10-14 4.5×10-15
CNDP1 cis Replication rs17817077 18:72,209,543 G/A 0.37 337 0.263 0.068 1.4×10-4 1.130 1.2×10-4 2.2×10-4

 

Regional association plots

 

Boxplots and histograms for top associations

Beta-Ala-His dipeptidase (CNDP1)

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

Beta-Ala-His dipeptidase (CNDP1)

Target (abbrv.) CNDP1
Target (full name) Beta-Ala-His dipeptidase
Somalogic ID (Sequence ID) SL006694 (3604-6_4)
Entrez Gene Symbol CNDP1
UniProt ID Q96KN2
UniProt Comment
  • Preferential hydrolysis of the beta-Ala-|-His dipeptide (carnosine), and also anserine, Xaa-|-His dipeptides and other dipeptides including homocarnosine.

All locus annotations are based on the sentinel SNP (rs17817077).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
  • CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family)
eQTL genes
  • CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family)

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of ZADH2 in T cells 2.2×10-5 19644074 (PMID) GRASP2 eQTL