HelmholtzZentrum munich

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


Proteome annotation
Locus annotations

Locus 403

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 rs3135063 4:3,287,052 C/A 0.38 997 -0.310 0.045 6.7×10-12 -1.190 2.2×10-10 1.7×10-13
HGFA cis Replication rs3129317 4:3,287,655 A/G 0.34 337 -0.184 0.080 0.022 -1.120 0.005 0.016


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
Replication 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 (rs3135063) and 2 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
  • RGS12 regulator of G-protein signaling 12
Potentially regulated genes
  • SH3BP2 SH3-domain binding protein 2
  • HGFAC HGF activator
  • ADRA2C adrenoceptor alpha 2C
  • RGS12 regulator of G-protein signaling 12
  • ADD1 adducin 1 (alpha)
  • LRPAP1 low density lipoprotein receptor-related protein associated protein 1
  • AC141928.1
  • MFSD10 major facilitator superfamily domain containing 10
eQTL genes
  • HTT-AS HTT antisense RNA (head to head)


Results from other genome-wide association studies

Trait P Study Source
cg00060484 (chr4:3287574) 3.3×10-310 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg15233074 (chr4:3288125) 3.3×10-310 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg27096232 (chr4:3287801) 3.3×10-310 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg23829948 (chr4:3288482) 1.6×10-166 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg24601522 (chr4:3287400) 2.6×10-154 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Huntington's disease 8.2×10-52 22387017 (PMID) GRASP2 nonQTL
Height 1.9×10-7 25282103 (PMID) Supplemental file
Hip circumfence, adjusted for BMI 4.8×10-6 25673412 (PMID) Supplemental file
Total cholesterol 7.3×10-6 24097068 (PMID) Supplemental file
College completion 3.2×10-5 23722424 (PMID) GRASP2 nonQTL
Educational attainment, College 3.2×10-5 23722424 (PMID) Supplemental file
Triglycerides 3.7×10-5 24097068 (PMID) Supplemental file
Serum concentration of scyllo-inositol 4.1×10-4 21886157 (PMID) GRASP2 metabQTL
LDL cholesterol 4.3×10-4 24097068 (PMID) Supplemental file