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WCMC

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

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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)

Download the association data used to generate this plot

 

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