HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 100

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
a2-HS-Glycoprotein cis Discovery rs2518136 3:186,337,827 C/T 0.46 994 -0.556 0.040 1.7×10-39 -1.080 1.6×10-38 1.9×10-35
a2-HS-Glycoprotein cis Replication rs2518136 3:186,337,827 G/A 0.42 337 -0.325 0.071 7.3×10-6 -1.050 1.3×10-5 2.2×10-4

 

Regional association plots

Alpha-2-HS-glycoprotein (a2-HS-Glycoprotein)

 

Boxplots and histograms for top associations

Alpha-2-HS-glycoprotein (a2-HS-Glycoprotein)

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

Alpha-2-HS-glycoprotein (a2-HS-Glycoprotein)

Target (abbrv.) a2-HS-Glycoprotein
Target (full name) Alpha-2-HS-glycoprotein
Somalogic ID (Sequence ID) SL000251 (3581-53_3)
Entrez Gene Symbol AHSG
UniProt ID P02765
UniProt Comment
  • Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions.
Biomarker applications (based on IPA annotation)
  • unspecified application
Pathway Interaction Database
  • BMP receptor signaling

All locus annotations are based on the sentinel SNP (rs2518136) and 5 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

 

Results from other genome-wide association studies

Trait P Study Source
Serum ratio of (1-oleoylglycerol (1-monoolein))/(tetradecanedioate) 8.3×10-5 21886157 (PMID) GRASP2 metabQTL
cg22092114 (chr3:186338807) 9.1×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs