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WCMC

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

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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)

Download the association data used to generate this plot

 

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


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Genes hit or close-by
eQTL genes
  • CYP2B7P cytochrome P450, family 2, subfamily B, polypeptide 7, pseudogene

 

Results from other genome-wide association studies


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No associations available.