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WCMC

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

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Locus annotations

Locus 112

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 rs419137 1:196,696,875 T/G 0.12 994 0.818 0.063 4.2×10-36 1.550 2.9×10-32 3.8×10-35

 

Regional association plots

 

Boxplots and histograms for top associations

Hemopexin

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery 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 (rs419137).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes


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Genes hit or close-by
  • CFH complement factor H

 

Results from other genome-wide association studies

Trait P Study Source
Advanced age-related macular degeneration 7.2×10-25 23455636 (PMID) GRASP2 nonQTL
Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD 6.9×10-18 23455636 (PMID) GRASP2 nonQTL
Advanced age-related macular degeneration (geographic atrophy) 3.2×10-12 23455636 (PMID) GRASP2 nonQTL
Macular degeneration 1.1×10-10 pha002869 (dbGaP) dbGaP via SNiPA
Serum concentration of gamma-tocopherol 4.3×10-4 21886157 (PMID) GRASP2 metabQTL