Protein Dossier — BOC (Brother of CDO)
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 |
| Height |
-0.0705 |
0.0158 |
7.69e-06 |
Wald ratio |
1 |
cis |
NA |
| Heel bone mineral density (BMD) T-score automated |
0.066 |
0.0172 |
1.20e-04 |
Wald ratio |
1 |
cis |
NA |
| Body mass index (BMI) |
0.0423 |
0.0133 |
0.00144 |
Wald ratio |
1 |
cis |
NA |
| Vascular or heart problems diagnosed by doctor: Angina |
0.19 |
0.0618 |
0.00205 |
Wald ratio |
1 |
cis |
NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
-0.0938 |
0.0336 |
0.00527 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema |
0.138 |
0.0515 |
0.00733 |
Wald ratio |
1 |
cis |
NA |
| Autism |
-0.345 |
0.151 |
0.022 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I48 Atrial fibrillation and flutter |
0.228 |
0.101 |
0.0242 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: bladder problem (not cancer) |
0.295 |
0.132 |
0.0257 |
Wald ratio |
1 |
cis |
NA |
| Birth weight |
-0.0386 |
0.0195 |
0.0478 |
Wald ratio |
1 |
cis |
NA |
| Low grade serous ovarian cancer |
-0.532 |
0.27 |
0.049 |
Wald ratio |
1 |
cis |
NA |
| Fractured or broken bones in last 5 years |
-0.0866 |
0.0452 |
0.0556 |
Wald ratio |
1 |
cis |
NA |
| …and 81 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4328_2_2 |
BOC |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
76 association rows across 37 traits (67 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 BOC levels (id: OID00386_OID20116) |
1e-218 |
rs4682478 |
7 |
GCST90859748 |
no MR -> candidate analysis |
| Circulating BOC levels (id: OID01380_OID20116) |
3e-140 |
rs4682478 |
7 |
GCST90860567 |
no MR -> candidate analysis |
| BOC protein levels |
8e-140 |
rs3856718 |
4 |
GCST90468458 |
no MR -> candidate analysis |
| CD200R1 protein levels |
2e-115 |
rs1846594 |
5 |
GCST90468605 |
no MR -> candidate analysis |
| Height |
4e-105 |
rs3846046 |
10 |
GCST90245848 |
MR: beta=-0.0705, p=7.69e-06 (cis) |
| Brother of CDO levels |
7e-34 |
rs34284771 |
3 |
GCST90246727 |
no MR -> candidate analysis |
| Serum levels of protein BOC |
2e-20 |
rs3856720 |
1 |
GCST90088664 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein BOC levels |
8e-20 |
rs79231157 |
1 |
GCST90943087 |
no MR -> candidate analysis |
| Benign neoplasm of colon (PheCode 208) |
1e-18 |
rs1499899 |
2 |
GCST90475617 |
no MR -> candidate analysis |
| Colorectal cancer |
2e-16 |
rs13086367 |
6 |
GCST90129505 |
no MR -> candidate analysis |
| Type 2 diabetes |
2e-14 |
rs775230 |
1 |
GCST90492734 |
no MR -> candidate analysis |
| Height (baseline) |
4e-14 |
rs41271357 |
1 |
GCST90565843 |
no MR -> candidate analysis |
| …and 25 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 178 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 |
| benign colon neoplasm |
0.641 |
— |
common-variant locus |
MR: beta=0.16, p=0.098 (cis) |
| polyp of colon |
0.626 |
— |
common-variant locus |
no MR -> candidate analysis |
| adolescent idiopathic scoliosis |
0.55 |
— |
common-variant locus |
no MR -> candidate analysis |
| colonic neoplasm |
0.535 |
— |
common-variant locus |
no MR -> candidate analysis |
| rectal neoplasm |
0.535 |
— |
common-variant locus |
no MR -> candidate analysis |
| anus neoplasm |
0.535 |
— |
common-variant locus |
MR: beta=0.16, p=0.098 (cis) |
| colorectal cancer |
0.511 |
— |
common-variant locus |
no MR -> candidate analysis |
| intestinal disorder |
0.497 |
— |
common-variant locus |
no MR -> candidate analysis |
| frozen shoulder |
0.47 |
— |
common-variant locus |
no MR -> candidate analysis |
| type 2 diabetes mellitus |
0.461 |
— |
common-variant locus |
no MR -> candidate analysis |
| diabetes mellitus |
0.433 |
— |
common-variant locus |
no MR -> candidate analysis |
| benign neoplasm |
0.39 |
— |
common-variant locus |
MR: beta=0.16, p=0.098 (cis) |
| device complication |
0.378 |
— |
common-variant locus |
no MR -> candidate analysis |
| placenta praevia |
0.366 |
— |
common-variant locus |
no MR -> candidate analysis |
| idiopathic dilated cardiomyopathy |
0.362 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 12 have no MR estimate in this resource. Across all retrieved diseases for this gene: 0 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 |
not available — no ChEMBL target (undrugged) |
| gnomAD constraint |
pLI=3.1e-17, LOEUF=0.821 — LoF-tolerant |
| GWAS Catalog |
70 unique SNPs / 140 rows |
| ClinVar |
266 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 178 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — No ChEMBL target for ‘BOC’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 266 ClinVar records for this gene; it is a sample, not a rate.pharmgkb — No PharmGKB/ClinPGx clinical annotations (gene may not be a pharmacogene).gwas_traits — Top 20 of 37 traits by best p-value, aggregated from 76 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/Q9BWV1 — 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/ENSG00000144857/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/BOC — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/BOC — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=BOC%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/BOC — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:17:51 · 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