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WCMC

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

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Locus annotations

Locus 399

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
CYTD cis Discovery rs4585101 20:23,847,254 C/T 0.22 997 -0.357 0.051 5.9×10-12 -1.190 4.8×10-12 5.4×10-10
CYTD cis Replication rs6083298 20:23,823,856 G/A 0.21 337 -0.135 0.080 0.092 -1.090 0.12 0.352

 

Regional association plots

 

Boxplots and histograms for top associations

Cystatin-D (CYTD)

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

Cystatin-D (CYTD)

Target (abbrv.) CYTD
Target (full name) Cystatin-D
Somalogic ID (Sequence ID) SL008382 (3803-10_2)
Entrez Gene Symbol CST5
UniProt ID P28325
UniProt Comment
  • Cysteine proteinase inhibitor that possibly plays a protective role against proteinases present in the oral cavity. The order of preference for inhibition is cathepsin S > cathepsin H > cathepsin L > cathepsin B.
Wiki Pathways
  • Endochondral Ossification

All locus annotations are based on the sentinel SNP (rs4585101) and 36 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
Potentially regulated genes
eQTL genes

 

Results from other genome-wide association studies


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No associations available.