HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
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.