HelmholtzZentrum munich
WCMC

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

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Locus annotations

Locus 323

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
GPNMB cis Discovery rs5850 7:23,314,547 C/T 0.39 996 -0.337 0.044 8.1×10-14 -1.070 1.3×10-13 1.8×10-12
GPNMB cis Replication rs10085838 7:23,298,415 C/A 0.31 337 -0.141 0.059 0.018 -1.030 0.084 0.059

 

Regional association plots

Transmembrane glycoprotein NMB (GPNMB)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Transmembrane glycoprotein NMB (GPNMB)

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

Transmembrane glycoprotein NMB (GPNMB)

Target (abbrv.) GPNMB
Target (full name) Transmembrane glycoprotein NMB
Somalogic ID (Sequence ID) SL007429 (5080-131_3)
Entrez Gene Symbol GPNMB
UniProt ID Q14956
UniProt Comment
  • Could be a melanogenic enzyme.
Biomarker applications (based on IPA annotation)
  • unspecified application

All locus annotations are based on the sentinel SNP (rs5850) 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
  • GPNMB glycoprotein (transmembrane) nmb