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

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Locus annotations

Locus 78

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
KI2L4 cis Discovery rs618835 19:55,316,329 A/G 0.36 996 -0.636 0.041 2.3×10-49 -1.150 2.4×10-20 0.701

 

Regional association plots

Killer cell immunoglobulin-like receptor 2DL4 (KI2L4)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Killer cell immunoglobulin-like receptor 2DL4 (KI2L4)

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

Killer cell immunoglobulin-like receptor 2DL4 (KI2L4)

Target (abbrv.) KI2L4
Target (full name) Killer cell immunoglobulin-like receptor 2DL4
Somalogic ID (Sequence ID) SL012698 (5095-21_3)
Entrez Gene Symbol KIR2DL4
UniProt ID Q99706
UniProt Comment
  • Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis.
Reactome
  • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Pathway Studio
  • Natural Killer Cell Activation through Integrins and non-ITAM-Containing Receptors

All locus annotations are based on the sentinel SNP (rs618835).
However, the sentinel SNP is not contained in SNiPA's database (1000 Genomes Project, phase 3 version 5, European population). Thus, no information about linked genes or further functional annotation is available.

 

Results from other genome-wide association studies


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No associations available.