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WCMC

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

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Locus annotations

Locus 250

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Hemopexin trans Discovery rs10754218 1:197,165,014 A/G 0.31 993 0.400 0.048 3.2×10-16 1.270 2.5×10-17 1.7×10-14
Hemopexin trans Replication rs10754218 1:197,165,014 A/G 0.36 337 0.254 0.076 0.001 1.190 2.2×10-4 0.002

 

Regional association plots

 

Boxplots and histograms for top associations

Hemopexin

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

Hemopexin

Target (abbrv.) Hemopexin
Target (full name) Hemopexin
Somalogic ID (Sequence ID) SL000440 (2768-56_2)
Entrez Gene Symbol HPX
UniProt ID P02790
UniProt Comment
  • Binds heme and transports it to the liver for breakdown and iron recovery, after which the free hemopexin returns to the circulation.
Reactome
  • Scavenging of heme from plasma

All locus annotations are based on the sentinel SNP (rs10754218) and 4 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
  • ZBTB41 zinc finger and BTB domain containing 41
eQTL genes
  • CFHR3 complement factor H-related 3

 

Results from other genome-wide association studies

Trait P Study Source
Factor XIII B subunit 2.1×10-13 23381943 (PMID) GRASP2 nonQTL
Advanced age-related macular degeneration 2.2×10-13 23455636 (PMID) GRASP2 nonQTL
Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD 4.4×10-9 23455636 (PMID) GRASP2 nonQTL
Advanced age-related macular degeneration (geographic atrophy) 8×10-6 23455636 (PMID) GRASP2 nonQTL