HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 222

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
MIA cis Discovery rs4803378 19:41,333,441 G/A 0.02 997 1.304 0.146 2.5×10-18 1.330 9.6×10-21 1.6×10-26

 

Regional association plots

Melanoma-derived growth regulatory protein (MIA)

 

Boxplots and histograms for top associations

Melanoma-derived growth regulatory protein (MIA)

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

Melanoma-derived growth regulatory protein (MIA)

Target (abbrv.) MIA
Target (full name) Melanoma-derived growth regulatory protein
Somalogic ID (Sequence ID) SL001947 (2687-2_1)
Entrez Gene Symbol MIA
UniProt ID Q16674
UniProt Comment
  • Elicits growth inhibition on melanoma cells in vitro as well as some other neuroectodermal tumors, including gliomas.
Biomarker applications (based on IPA annotation)
  • disease progression
  • prognosis
Wiki Pathways
  • Neural Crest Differentiation

All locus annotations are based on the sentinel SNP (rs4803378) 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
eQTL genes
  • CYP2B7P cytochrome P450, family 2, subfamily B, polypeptide 7, pseudogene

 

Results from other genome-wide association studies

No associations available.