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WCMC

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

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Locus annotations

Locus 90

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 rs6138152 20:23,850,130 A/G 0.20 997 0.718 0.050 1.8×10-42 1.410 4.7×10-43 8.7×10-39
CYTD cis Replication rs6138150 20:23,847,009 A/G 0.14 337 0.480 0.084 2.5×10-8 1.360 6.8×10-8 1.6×10-4

 

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 (rs6138152) and 42 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

Trait P Study Source
Cystatin C in serum 1.5×10-10 20383146 (PMID) GRASP2 nonQTL
cg02882813 (chr20:23860054) 3×10-10 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of RAB11FIP5 in peripheral blood monocytes 6.3×10-8 20502693 (PMID) GRASP2 eQTL
Gene expression of CST3 in blood 2×10-7 21829388 (PMID) GRASP2 eQTL
Gene expression of EPHB3 in peripheral blood monocytes 2.6×10-6 20502693 (PMID) GRASP2 eQTL
Response to anti-TNF treatment for rheumatoid arthritis (change in Disease Activity Score (DAS28)) 2.8×10-6 18615156 (PMID) GRASP2 nonQTL
Response to TNF antagonist treatment 3×10-6 18615156 (PMID) GWAS Catalog via SNiPA
Gene expression of TC2N in peripheral blood monocytes 4×10-6 20502693 (PMID) GRASP2 eQTL
Autism 4.8×10-4 20663923 (PMID) GRASP2 nonQTL