HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 347

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 rs939421 3:46,576,081 T/C 0.26 996 -0.363 0.049 4×10-13 -1.070 1.4×10-9 1.2×10-5
Cripto cis Replication rs939421 3:46,576,081 A/G 0.33 337 -0.217 0.082 0.008 -1.040 0.015 0.073

 

Regional association plots

Teratocarcinoma-derived growth factor 1 (Cripto)

 

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 (rs939421) 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
  • LRRC2 leucine rich repeat containing 2
eQTL genes
  • TDGF1 teratocarcinoma-derived growth factor 1
  • LRRC2-AS1 LRRC2 antisense RNA 1
  • LRRC2 leucine rich repeat containing 2

 

Results from other genome-wide association studies

No associations available.