HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 73

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 rs947409 13:47,377,928 A/G 0.10 992 -1.061 0.066 2.2×10-52 -1.350 4.2×10-45 4.4×10-17
Esterase D cis Replication rs61510347 13:47,343,614 G/A 0.25 337 -0.754 0.076 2.5×10-20 -1.340 1×10-15 1.2×10-10

 

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 (rs947409) and 27 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
  • ESD esterase D

 

Results from other genome-wide association studies

Trait P Study Source
"Gene expression of ESD [transcript NM_001984, probe A_23_P87964] in liver" 1.3×10-12 21637794 (PMID) GRASP2 eQTL
Iron 3×10-4 pha002876 (dbGaP) dbGaP via SNiPA