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

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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)

Download the association data used to generate this plot

 

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


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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