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

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Locus annotations

Locus 268

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ADAMTS-5 cis Discovery rs990529 21:28,346,546 C/G 0.38 997 0.329 0.041 1.6×10-15 1.070 8.8×10-10 1.2×10-4

 

Regional association plots

A disintegrin and metalloproteinase with thrombospondin motifs 5 (ADAMTS-5)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

A disintegrin and metalloproteinase with thrombospondin motifs 5 (ADAMTS-5)

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

A disintegrin and metalloproteinase with thrombospondin motifs 5 (ADAMTS-5)

Target (abbrv.) ADAMTS-5
Target (full name) A disintegrin and metalloproteinase with thrombospondin motifs 5
Somalogic ID (Sequence ID) SL004626 (3168-8_2)
Entrez Gene Symbol ADAMTS5
UniProt ID Q9UNA0
UniProt Comment
  • Cleaves aggrecan, a cartilage proteoglycan, and may be involved in its turnover. May play an important role in the destruction of aggrecan in arthritic diseases. May play a role in proteolytic processing mostly during the peri-implantation period.
Wiki Pathways
  • Endochondral Ossification
Reactome
  • Degradation of the extracellular matrix
  • O-glycosylation of TSR domain-containing proteins

All locus annotations are based on the sentinel SNP (rs990529).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

There are no genes linked to the sentinel variant or to one of its proxies in linkage disequilibrium.

 

Results from other genome-wide association studies


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No associations available.