HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 114

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
HGFA cis Discovery rs1203119 4:3,406,952 G/A 0.08 995 -0.985 0.076 1.1×10-35 -1.730 1.4×10-28 2.2×10-41

 

Regional association plots

Hepatocyte growth factor activator (HGFA)

 

Boxplots and histograms for top associations

Hepatocyte growth factor activator (HGFA)

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

Hepatocyte growth factor activator (HGFA)

Target (abbrv.) HGFA
Target (full name) Hepatocyte growth factor activator
Somalogic ID (Sequence ID) SL006512 (3617-80_4)
Entrez Gene Symbol HGFAC
UniProt ID Q04756
UniProt Comment
  • Activates hepatocyte growth factor (HGF) by converting it from a single chain to a heterodimeric form.

All locus annotations are based on the sentinel SNP (rs1203119).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
  • RGS12 regulator of G-protein signaling 12

 

Results from other genome-wide association studies

Trait P Study Source
cg23829948 (chr4:3288482) 3.1×10-8 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Height 1.1×10-4 25282103 (PMID) Supplemental file