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WCMC

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

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Locus annotations

Locus 139

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 rs1455434 19:41,257,046 G/T 0.05 996 1.111 0.097 1.7×10-28 1.260 2×10-29 9.4×10-32
MIA cis Replication rs2545761 19:41,306,234 G/A 0.05 337 0.802 0.146 8.5×10-8 1.220 1.3×10-8 9.2×10-10

 

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
Replication 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 (rs1455434) and 29 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
  • ADCK4 aarF domain containing kinase 4
  • RNU6-195P RNA, U6 small nuclear 195, pseudogene
  • ITPKC inositol-trisphosphate 3-kinase C
  • C19orf54 chromosome 19 open reading frame 54
  • SNRPA small nuclear ribonucleoprotein polypeptide A
  • MIA-RAB4B MIA-RAB4B readthrough (NMD candidate)
  • MIA melanoma inhibitory activity
  • RAB4B RAB4B, member RAS oncogene family
  • RAB4B-EGLN2 RAB4B-EGLN2 readthrough (NMD candidate)
Potentially regulated genes
  • C19orf54 chromosome 19 open reading frame 54
eQTL genes
  • C19orf54 chromosome 19 open reading frame 54
  • MIA melanoma inhibitory activity

 

Results from other genome-wide association studies

Trait P Study Source
Type 2 diabetes 6.1×10-5 22158537 (PMID) GRASP2 nonQTL