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WCMC

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

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Locus annotations

Locus 387

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
granzyme A trans Discovery rs2853928 6:31,257,511 C/A 0.23 994 -0.363 0.051 3.4×10-12 -1.080 2×10-10 2.1×10-6
granzyme A trans Replication rs2853928 6:31,257,511 C/A 0.11 337 -0.230 0.093 0.014 -1.080 0.016 0.036

 

Regional association plots

 

Boxplots and histograms for top associations

Granzyme A (granzyme A)

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

Granzyme A (granzyme A)

Target (abbrv.) granzyme A
Target (full name) Granzyme A
Somalogic ID (Sequence ID) SL004298 (3440-7_2)
Entrez Gene Symbol GZMA
UniProt ID P12544
UniProt Comment
  • Abundant protease in the cytosolic granules of cytotoxic T-cells and NK-cells which activates caspase-independent cell death with morphological features of apoptosis when delivered into the target cell through the immunological synapse. It cleaves after Lys or Arg. Cleaves APEX1 after 'Lys-31' and destroys its oxidative repair activity. Cleaves the nucleosome assembly protein SET after 'Lys-189', which disrupts its nucleosome assembly activity and allows the SET complex to translocate into the nucleus to nick and degrade the DNA.
Pathway Interaction Database
  • IL12-mediated signaling events
Pathway Studio
  • CD8+ T-cell Activation
  • Cell Death Mediated by Cytotoxic Cells
  • Natural Killer Cell Activation

All locus annotations are based on the sentinel SNP (rs2853928) and 16 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