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

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Locus annotations

Locus 299

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Granulysin cis Discovery rs6547631 2:85,909,026 C/T 0.46 997 -0.338 0.043 1.2×10-14 -1.130 5.2×10-15 1.8×10-12
Granulysin cis Replication rs1030862 2:85,902,569 A/G 0.45 337 -0.315 0.070 1×10-5 -1.140 1.1×10-5 1×10-5

 

Regional association plots

 

Boxplots and histograms for top associations

Granulysin

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

Granulysin

Target (abbrv.) Granulysin
Target (full name) Granulysin
Somalogic ID (Sequence ID) SL000678 (3195-50_2)
Entrez Gene Symbol GNLY
UniProt ID P22749
UniProt Comment
  • Antimicrobial protein that kills intracellular pathogens. Active against a broad range of microbes, including Gram-positive and Gram-negative bacteria, fungi, and parasites. Kills Mycobacterium tuberculosis.

All locus annotations are based on the sentinel SNP (rs6547631) and 3 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
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of ATOH8 in peripheral blood monocytes 1.1×10-98 20502693 (PMID) GRASP2 eQTL
Gene expression of GNLY (probeID ILMN_1790692) in cerebellum in Alzheimer's disease cases and controls 1.8×10-23 22685416 (PMID) GRASP2 eQTL
Gene expression of GNLY (probeID ILMN_1790692) in temporal cortex in Alzheimer's disease cases and controls 7×10-21 22685416 (PMID) GRASP2 eQTL
Gene expression of GNLY in peripheral blood monocytes 1.5×10-19 20502693 (PMID) GRASP2 eQTL
Gene expression of MLH3 in peripheral blood monocytes 4.3×10-6 20502693 (PMID) GRASP2 eQTL
Gene expression of DYNLRB2 in peripheral blood monocytes 8.5×10-6 20502693 (PMID) GRASP2 eQTL