HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 382

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 rs1110258 4:15,742,716 A/G 0.25 997 0.359 0.051 2.7×10-12 1.180 2.7×10-11 3.6×10-12
BST1 cis Replication rs62290623 4:15,752,676 G/A 0.20 337 0.238 0.077 0.002 1.090 0.114 0.002

 

Regional association plots

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

 

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 (rs1110258) and 1 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

 

Results from other genome-wide association studies

No associations available.