HelmholtzZentrum munich

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


Proteome annotation
Locus annotations

Locus 440

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
GFRa-2 cis Discovery rs10503709 8:21,474,049 T/C 0.44 992 -0.287 0.043 5.4×10-11 -1.050 5.8×10-11 2.6×10-10
GFRa-2 cis Replication rs4739274 8:21,479,255 C/A 0.49 337 -0.145 0.058 0.012 -1.030 0.014 0.021


Regional association plots

GDNF family receptor alpha-2 (GFRa-2)


Boxplots and histograms for top associations

GDNF family receptor alpha-2 (GFRa-2)

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

GDNF family receptor alpha-2 (GFRa-2)

Target (abbrv.) GFRa-2
Target (full name) GDNF family receptor alpha-2
Somalogic ID (Sequence ID) SL004143 (2515-14_3)
Entrez Gene Symbol GFRA2
UniProt ID O00451
UniProt Comment
  • Receptor for neurturin. Mediates the NRTN-induced autophosphorylation and activation of the RET receptor. Also able to mediate GDNF signaling through the RET tyrosine kinase receptor.
  • NCAM1 interactions

All locus annotations are based on the sentinel SNP (rs10503709) and 93 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

Potentially regulated genes
  • NPM2 nucleophosmin/nucleoplasmin 2
  • FGF17 fibroblast growth factor 17
  • FAM160B2 family with sequence similarity 160, member B2
eQTL genes
  • GFRA2 GDNF family receptor alpha 2


Results from other genome-wide association studies

Trait P Study Source
erythronate* 4.1×10-5 24816252 (PMID) gwas.eu via SNiPA
Breast cancer risk (in BRCA1 mutation carriers) 1.2×10-4 20852631 (PMID) GRASP2 nonQTL
Schizophrenia 1.8×10-4 21926974 (PMID) Supplemental file
Bipolar disorder vs. Schizophrenia 2.8×10-4 24280982 (PMID) Supplemental file