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WCMC

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

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Locus annotations

Locus 443

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Cripto cis Discovery rs7610301 3:46,646,028 G/A 0.24 995 -0.345 0.052 5.9×10-11 -1.070 3.4×10-7 0.023
Cripto cis Replication rs6799581 3:46,644,909 A/C 0.29 337 -0.339 0.079 2.2×10-5 -1.070 3.9×10-5 0.001

 

Regional association plots

Teratocarcinoma-derived growth factor 1 (Cripto)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Teratocarcinoma-derived growth factor 1 (Cripto)

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

Teratocarcinoma-derived growth factor 1 (Cripto)

Target (abbrv.) Cripto
Target (full name) Teratocarcinoma-derived growth factor 1
Somalogic ID (Sequence ID) SL005155 (2672-60_1)
Entrez Gene Symbol TDGF1
UniProt ID P13385
UniProt Comment
  • Could play a role in the determination of the epiblastic cells that subsequently give rise to the mesoderm.
Biomarker applications (based on IPA annotation)
  • diagnosis

All locus annotations are based on the sentinel SNP (rs7610301) and 19 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
  • TDGF1 teratocarcinoma-derived growth factor 1
Potentially regulated genes
  • PRSS50 protease, serine, 50
  • PRSS44 protease, serine, 44
  • CCR2 chemokine (C-C motif) receptor 2
  • LRRC2 leucine rich repeat containing 2
  • CCR3 chemokine (C-C motif) receptor 3
  • AC104304.1
eQTL genes
  • TDGF1 teratocarcinoma-derived growth factor 1
  • PRSS46 protease, serine, 46
  • TREX1 three prime repair exonuclease 1
  • ATRIP ATR interacting protein
  • TREX1 three prime repair exonuclease 1

 

Results from other genome-wide association studies

Trait P Study Source
Schizophrenia 3.4×10-5 21926974 (PMID) Supplemental file
Systemic sclerosis 5.4×10-5 21750679 (PMID) GRASP2 nonQTL
Cross-disorder, subset Schizophrenia 2.4×10-4 23453885 (PMID) Supplemental file
Serum concentration of 2-hydroxyhippurate (salicylurate) 2.9×10-4 21886157 (PMID) GRASP2 metabQTL