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

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Locus annotations

Locus 110

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
CYTN cis Discovery rs6114248 20:23,711,882 G/A 0.31 995 0.564 0.043 5×10-37 1.290 6.5×10-33 0.002
CYTN cis Replication rs6036507 20:23,721,992 G/A 0.24 337 0.376 0.076 1.2×10-6 1.180 3.5×10-5 0.37
CYTT cis Discovery rs6114248 20:23,711,882 G/A 0.31 995 0.515 0.043 4.4×10-31 1.250 4.3×10-30 1×10-28
CYTT cis Replication rs6036507 20:23,721,992 G/A 0.24 337 0.378 0.068 7×10-8 1.240 1.5×10-7 0.01

 

Regional association plots

 

Boxplots and histograms for top associations

Cystatin-SN (CYTN)

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

Cystatin-SA (CYTT)

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

Cystatin-SN (CYTN)

Target (abbrv.) CYTN
Target (full name) Cystatin-SN
Somalogic ID (Sequence ID) SL010456 (5459-33_3)
Entrez Gene Symbol CST1
UniProt ID P01037
UniProt Comment
  • Human saliva appears to contain several cysteine proteinase inhibitors that are immunologically related to cystatin S but that differ in their specificity due to amino acid sequence differences. Cystatin SN, with a pI of 7.5, is a much better inhibitor of papain and dipeptidyl peptidase I than is cystatin S, although both inhibit ficin equally well.

Cystatin-SA (CYTT)

Target (abbrv.) CYTT
Target (full name) Cystatin-SA
Somalogic ID (Sequence ID) SL008516 (4324-33_2)
Entrez Gene Symbol CST2
UniProt ID P09228
UniProt Comment
  • Thiol protease inhibitor.

All locus annotations are based on the sentinel SNP (rs6114248) and 40 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
  • CST2P1 cystatin SA pseudogene 1
  • CST1 cystatin SN
Potentially regulated genes
eQTL genes

 

Results from other genome-wide association studies


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No associations available.