HelmholtzZentrum munich

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


Proteome annotation
Locus annotations

Locus 80

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IGF-II receptor cis Discovery rs600324 6:160,519,276 C/T 0.10 993 -0.982 0.064 7.1×10-48 -1.180 4.4×10-48 8.4×10-41
IGF-II receptor cis Replication rs629849 6:160,494,409 G/A 0.07 337 -0.748 0.119 9.9×10-10 -1.200 1.7×10-10 2.5×10-8


Regional association plots

Cation-independent mannose-6-phosphate receptor (IGF-II receptor)


Boxplots and histograms for top associations

Cation-independent mannose-6-phosphate receptor (IGF-II receptor)

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

Cation-independent mannose-6-phosphate receptor (IGF-II receptor)

Target (abbrv.) IGF-II receptor
Target (full name) Cation-independent mannose-6-phosphate receptor
Somalogic ID (Sequence ID) SL003679 (3676-15_3)
Entrez Gene Symbol IGF2R
UniProt ID P11717
UniProt Comment
  • Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex. This receptor also binds IGF2. Acts as a positive regulator of T-cell coactivation, by binding DPP4.
Wiki Pathways
  • Adipocyte TarBase
  • Epithelium TarBase
  • Leukocyte TarBase
  • Lymphocyte TarBase
  • Muscle cell TarBase
  • Golgi Associated Vesicle Biogenesis
Pathway Studio
  • Golgi to Endosome Transport
  • Transcytosis

All locus annotations are based on the sentinel SNP (rs600324) and 1 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


Results from other genome-wide association studies

Trait P Study Source
Lipoproteins 4.4×10-5 pha003079 (dbGaP) dbGaP via SNiPA
Birth length 2.7×10-4 25281659 (PMID) Supplemental file