HelmholtzZentrum munich

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


Proteome annotation
Locus annotations

Locus 297

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
DERM cis Discovery rs494189 1:168,707,757 G/A 0.25 997 -0.355 0.045 1.1×10-14 -1.070 1.9×10-13 2×10-11
DERM cis Replication rs628718 1:168,697,942 A/G 0.41 337 -0.336 0.067 7.3×10-7 -1.090 1.9×10-6 3.7×10-5


Regional association plots


Boxplots and histograms for top associations

Dermatopontin (DERM)

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

Dermatopontin (DERM)

Target (abbrv.) DERM
Target (full name) Dermatopontin
Somalogic ID (Sequence ID) SL008178 (4979-34_2)
Entrez Gene Symbol DPT
UniProt ID Q07507
UniProt Comment
  • Seems to mediate adhesion by cell surface integrin binding. May serve as a communication link between the dermal fibroblast cell surface and its extracellular matrix environment. Enhances TGFB1 activity. Inhibits cell proliferation. Accelerates collagen fibril formation, and stabilizes collagen fibrils against low-temperature dissociation (By similarity).

All locus annotations are based on the sentinel SNP (rs494189) and 15 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
Potentially regulated genes
  • DPT dermatopontin
eQTL genes
  • DPT dermatopontin


Results from other genome-wide association studies

Trait P Study Source
Gene expression of DPT in normal prepouch ileum 1.1×10-4 23474282 (PMID) GRASP2 eQTL