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

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Locus annotations

Locus 122

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
DLRB1 trans Discovery rs1339847 1:248,039,294 G/A 0.10 996 0.847 0.069 9.2×10-33 1.340 1.4×10-32 4.2×10-17
DLRB1 trans Replication rs1339847 1:248,039,294 G/A 0.09 337 0.335 0.073 5.4×10-6 1.340 9.3×10-7 3.2×10-9

 

Regional association plots

Dynein light chain roadblock-type 1 (DLRB1)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Dynein light chain roadblock-type 1 (DLRB1)

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

Dynein light chain roadblock-type 1 (DLRB1)

Target (abbrv.) DLRB1
Target (full name) Dynein light chain roadblock-type 1
Somalogic ID (Sequence ID) SL011530 (3845-51_2)
Entrez Gene Symbol DYNLRB1
UniProt ID Q9NP97
UniProt Comment
  • Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules.
Pathway Interaction Database
  • TGF-beta receptor signaling
Reactome
  • Intraflagellar transport

All locus annotations are based on the sentinel SNP (rs1339847) and 3 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
  • TRIM58 tripartite motif containing 58

 

Results from other genome-wide association studies

Trait P Study Source
Serum ratio of (3-phenylpropionate (hydrocinnamate))/(catechol sulfate) 2.8×10-6 21886157 (PMID) GRASP2 metabQTL
Hypertension 5.4×10-5 pha003041 (dbGaP) dbGaP via SNiPA
cg03748376 (chr1:248100609) 9.7×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs

Possible link between cis-variants and protein levels of DYNLRB1.

This locus harbours a replicated trans-pQTL to Dynein light chain roadblock-type 1 (DYNLRB1).

The information gathered here is a result of an attempt to keep track of all interesting information that we encountered while investigating these loci. Please bear in mind that the annotation given here is neither complete nor free of errors, and that all information provided here should be confirmed by additional literature research before being used as a basis for firm conclusions or further experiments.