HelmholtzZentrum munich
WCMC

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

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Locus annotations

Locus 375

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
BST1 cis Discovery rs4473651 4:15,770,911 G/A 0.11 994 -0.497 0.069 1.6×10-12 -1.250 4.4×10-11 2.2×10-13
BST1 cis Replication rs4473651 4:15,770,911 G/A 0.17 337 -0.194 0.081 0.018 -1.130 0.03 0.026

 

Regional association plots

ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 (BST1)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 (BST1)

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

ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 (BST1)

Target (abbrv.) BST1
Target (full name) ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2
Somalogic ID (Sequence ID) SL008644 (4535-50_2)
Entrez Gene Symbol BST1
UniProt ID Q10588
UniProt Comment
  • Synthesizes the second messagers cyclic ADP-ribose and nicotinate-adenine dinucleotide phosphate, the former a second messenger that elicits calcium release from intracellular stores. May be involved in pre-B-cell growth.

All locus annotations are based on the sentinel SNP (rs4473651) and 14 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
  • CD38 CD38 molecule
Potentially regulated genes
eQTL genes
  • FBXL5 F-box and leucine-rich repeat protein 5
  • CD38 CD38 molecule

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of FBXL5 in blood 9.9×10-5 21829388 (PMID) GRASP2 eQTL