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WCMC

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

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Locus annotations

Locus 275

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
GPC5 cis Discovery rs7325116 13:92,592,555 A/C 0.42 996 -0.348 0.044 3.4×10-15 -1.110 4.1×10-11 0.31
GPC5 cis Replication rs9523451 13:92,574,422 G/A 0.42 337 -0.163 0.074 0.027 -1.030 0.269 0.678

 

Regional association plots

 

Boxplots and histograms for top associations

Glypican-5 (GPC5)

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

Glypican-5 (GPC5)

Target (abbrv.) GPC5
Target (full name) Glypican-5
Somalogic ID (Sequence ID) SL012469 (4991-12_1)
Entrez Gene Symbol GPC5
UniProt ID P78333
UniProt Comment
  • Cell surface proteoglycan that bears heparan sulfate.
Reactome
  • A tetrasaccharide linker sequence is required for GAG synthesis
  • Defective B3GAT3 causes JDSSDHD
  • Defective B4GALT7 causes EDS, progeroid type
  • Defective EXT1 causes exostoses 1, TRPS2 and CHDS
  • Defective EXT2 causes exostoses 2
  • HS-GAG biosynthesis
  • HS-GAG degradation
  • Release of Hh-Np from the secreting cell
  • Retinoid metabolism and transport

All locus annotations are based on the sentinel SNP (rs7325116) and 12 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


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Genes hit or close-by
eQTL genes

 

Results from other genome-wide association studies


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No associations available.