Protein Dossier — BST1 (ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2)
MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
1. Published MR estimates (retrieved, not computed)
| Outcome |
beta |
se |
p |
method |
nSNP |
cis/trans |
coloc |
| Diagnoses - main ICD10: N20 Calculus of kidney and ureter |
-0.116 |
0.0317 |
2.41e-04 |
Wald ratio |
1 |
cis |
NA |
| Celiac disease |
0.0548 |
0.0181 |
0.00247 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: sleep apnoea |
-0.142 |
0.0494 |
0.00391 |
Wald ratio |
1 |
cis |
NA |
| Alcohol intake frequency |
-0.00999 |
0.0035 |
0.00433 |
Wald ratio |
1 |
cis |
NA |
| Happiness |
0.00764 |
0.00294 |
0.0094 |
Wald ratio |
1 |
cis |
NA |
| Weight |
-0.00531 |
0.00209 |
0.0111 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R35 Polyuria |
0.0837 |
0.0349 |
0.0166 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: emphysema or chronic bronchitis |
0.0442 |
0.0196 |
0.0242 |
Wald ratio |
1 |
cis |
NA |
| Lumbar spine bone mineral density |
-0.0184 |
0.00854 |
0.0316 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms |
-0.0424 |
0.0201 |
0.0349 |
Wald ratio |
1 |
cis |
NA |
| Body mass index (BMI) |
-0.00494 |
0.00237 |
0.0369 |
Wald ratio |
1 |
cis |
NA |
| Crohn’s disease |
0.0249 |
0.0121 |
0.0395 |
Wald ratio |
1 |
cis |
NA |
| …and 67 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4535_50_2 |
BST1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
88 association rows across 36 traits (77 genome-wide significant rows). Associations are loci, not causal claims; the mapped gene at a locus is not necessarily the effector gene.
| Trait |
best p |
lead SNP |
n assoc |
study |
MR status |
| Circulating BST1 levels |
3e-5695 |
rs2302465 |
1 |
GCST90860619 |
no MR -> candidate analysis |
| ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 levels |
3e-2219 |
rs73224660 |
17 |
GCST90246747 |
no MR -> candidate analysis |
| ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 levels (BS |
2e-744 |
rs73224660 |
2 |
GCST90240204 |
no MR -> candidate analysis |
| 3-methylcytidine levels |
7e-661 |
rs113618320 |
4 |
GCST90200682 |
no MR -> candidate analysis |
| Blood protein levels |
9e-630 |
rs16892260 |
1 |
GCST006585 |
no MR -> candidate analysis |
| BST1 protein levels |
6e-274 |
rs2302465 |
16 |
GCST90453272 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein BST1 levels |
4e-253 |
rs4263397 |
1 |
GCST90944133 |
no MR -> candidate analysis |
| Circulating CD38 levels |
7e-245 |
rs868763 |
5 |
GCST90859672 |
no MR -> candidate analysis |
| Protein quantitative trait loci |
1e-134 |
rs73224659 |
1 |
GCST010900 |
no MR -> candidate analysis |
| Metabolite levels (3-methylcytidine) |
5e-120 |
rs2302465 |
1 |
GCST90300548 |
no MR -> candidate analysis |
| Urine 3-methylcytidine levels in chronic kidney disease |
2e-85 |
rs113618320 |
1 |
GCST90264561 |
no MR -> candidate analysis |
| Plasma X-21283 levels in chronic kidney disease |
4e-70 |
rs55735476 |
1 |
GCST90266479 |
no MR -> candidate analysis |
| …and 24 more traits (see JSON) |
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|
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 192 total). Associations are loci, not causal claims. The causal-status column is a four-state triage per pair: established (curated) = a curated clinical assertion exists (ClinGen/G2P/GEL/Orphanet/ClinVar — any validity level, MR adds little); exploratory rare-variant signal = ExWAS burden evidence without curation — a candidate NEW gene-disease relationship; common-variant locus = GWAS signal, classic pQTL-MR territory; multi-layer = burden+GWAS together, an allelic-series candidate (the strongest causal setup). Burden estimand is carrier-vs-noncarrier, not per-SD MR.
| Disease |
genetic assoc. |
burden (ExWAS) |
causal status |
MR status |
| Parkinson disease |
0.853 |
— |
common-variant locus |
no MR -> candidate analysis |
| Lewy body dementia |
0.505 |
— |
common-variant locus |
no MR -> candidate analysis |
| cataract |
0.152 |
0.152 |
exploratory rare-variant signal |
MR: beta=0.0156, p=0.221 (cis) |
| drug-induced dyskinesia |
0.152 |
0.152 |
exploratory rare-variant signal |
no MR -> candidate analysis |
| conduct disorder |
0.112 |
— |
common-variant locus |
no MR -> candidate analysis |
| phototoxic dermatitis |
0.052 |
— |
common-variant locus |
no MR -> candidate analysis |
| diverticular disease |
0.044 |
— |
common-variant locus |
no MR -> candidate analysis |
| risk-taking behaviour |
0.043 |
— |
common-variant locus |
no MR -> candidate analysis |
| alopecia areata |
0.039 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 9 rows above, 8 have no MR estimate in this resource. Across all retrieved diseases for this gene: 2 exploratory rare-variant signal(s), 0 multi-layer (allelic-series candidate) pair(s). Final triage still belongs to a statistical geneticist.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
0 known modulators (ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2) |
| gnomAD constraint |
pLI=5.7e-20, LOEUF=1.53 — LoF-tolerant |
| GWAS Catalog |
108 unique SNPs / 226 rows |
| ClinVar |
132 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
1 clinical annotations across 1 drugs |
phenome — Top 30 of 192 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘BST1’ and resolved to ‘ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 132 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 36 traits by best p-value, aggregated from 88 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/Q10588 — UniProt release 2026_02 (10-June-2026)mr_outcomes: https://epigraphdb.org/pqtl/ — EpiGraphDB pQTL MR (Zheng et al., Nat Genet 2020) — pre-computed two-sample MR; retrieved, not computed by this agent; EpiGraphDB build 1.0, pQTL dataset v3.0phenome: https://platform.opentargets.org/target/ENSG00000109743/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5169147/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/BST1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/BST1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=BST1%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=BST1 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/BST1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:18:57 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: none