HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 363

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 rs858267 7:23,210,129 G/T 0.02 996 1.033 0.142 8.4×10-13 1.250 4.7×10-15 1.8×10-19
GPNMB cis Replication rs199354 7:23,296,572 G/A 0.07 337 0.149 0.106 0.163 1.040 0.25 0.368

 

Regional association plots

Transmembrane glycoprotein NMB (GPNMB)

 

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 (rs858267) and 32 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
  • KLHL7 kelch-like family member 7
  • GPNMB glycoprotein (transmembrane) nmb
Potentially regulated genes
  • GPNMB glycoprotein (transmembrane) nmb
  • TOMM7 translocase of outer mitochondrial membrane 7 homolog (yeast)
eQTL genes

 

Results from other genome-wide association studies

No associations available.