HelmholtzZentrum munich

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


Proteome annotation
Locus annotations

Locus 305

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Esterase D cis Discovery rs6561333 13:47,420,312 C/T 0.46 990 0.345 0.045 2.7×10-14 1.110 3×10-13 2.6×10-5
Esterase D cis Replication rs9567737 13:47,421,266 A/G 0.46 337 0.162 0.067 0.017 1.060 0.039 0.176


Regional association plots

S-formylglutathione hydrolase (Esterase D)


Boxplots and histograms for top associations

S-formylglutathione hydrolase (Esterase D)

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

S-formylglutathione hydrolase (Esterase D)

Target (abbrv.) Esterase D
Target (full name) S-formylglutathione hydrolase
Somalogic ID (Sequence ID) SL006378 (4984-83_1)
Entrez Gene Symbol ESD
UniProt ID P10768
UniProt Comment
  • Serine hydrolase involved in the detoxification of formaldehyde.
Wiki Pathways
  • Phase I, non P450

All locus annotations are based on the sentinel SNP (rs6561333) and 2 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
  • HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
  • HTR2A-AS1 HTR2A antisense RNA 1


Results from other genome-wide association studies

No associations available.