HelmholtzZentrum munich

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


Proteome annotation
Locus annotations

Locus 204

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 rs4443656 8:21,541,084 A/G 0.42 996 0.403 0.044 2.2×10-19 1.080 2.6×10-19 5.8×10-19
GFRa-2 cis Replication rs4443656 8:21,541,084 G/A 0.39 337 -0.318 0.058 7×10-8 -1.060 9.2×10-8 5.1×10-7


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 (rs4443656) and 20 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
  • GFRA2 GDNF family receptor alpha 2
eQTL genes
  • GFRA2 GDNF family receptor alpha 2


Results from other genome-wide association studies

Trait P Study Source
cg20765100 (chr8:21495077) 5.5×10-10 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gly-PTC / PC ae C40:0 3.6×10-7 20037589 (PMID) GRASP2 metabQTL
Gly-PTC 5.3×10-5 20037589 (PMID) GRASP2 metabQTL
xanthine 5.9×10-5 24816252 (PMID) gwas.eu via SNiPA
Type 1 diabetes, combined control dataset, gender differentiated 3.1×10-4 17554300 (PMID) GRASP2 nonQTL
Fasting insulin, main effect, BMI adjusted 3.5×10-4 22581228 (PMID) Supplemental file