Protein Dossier — BMP6 (Bone morphogenetic protein 6)
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: D12 Benign neoplasm of colon rectum anus and anal canal |
0.374 |
0.0811 |
3.90e-06 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: diverticular disease or diverticulitis |
0.329 |
0.0952 |
5.42e-04 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms |
0.269 |
0.0869 |
0.00193 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: C50 Malignant neoplasm of breast |
0.216 |
0.088 |
0.014 |
Wald ratio |
1 |
trans |
NA |
| Red blood cell count |
0.0358 |
0.0152 |
0.0188 |
Wald ratio |
1 |
trans |
NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
0.0925 |
0.0404 |
0.0219 |
Wald ratio |
1 |
trans |
NA |
| Mean cell haemoglobin concentration |
-0.0503 |
0.0222 |
0.0232 |
Wald ratio |
1 |
trans |
NA |
| Mean cell volume |
-0.396 |
0.178 |
0.0257 |
Wald ratio |
1 |
trans |
NA |
| Small vessel disease |
0.578 |
0.282 |
0.0406 |
Wald ratio |
1 |
trans |
NA |
| Age at menopause |
0.277 |
0.138 |
0.0455 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: enlarged prostate |
-0.332 |
0.171 |
0.0523 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: K80 Cholelithiasis |
0.157 |
0.0831 |
0.0583 |
Wald ratio |
1 |
trans |
NA |
| …and 81 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3736_60_3 |
BMP-6 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
233 association rows across 107 traits (201 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 |
| Height |
1e-300 |
rs3812163 |
43 |
GCST90245843 |
no MR -> candidate analysis |
| height (mean, inv-normal transformed) |
8e-300 |
rs9392172 |
2 |
GCST90475362 |
no MR -> candidate analysis |
| height (minimum, inv-normal transformed) |
4e-274 |
rs9392172 |
2 |
GCST90475365 |
no MR -> candidate analysis |
| Height (maximum, inv-normal transformed) |
3e-266 |
rs9392172 |
2 |
GCST90475359 |
no MR -> candidate analysis |
| Standing height (UKB data field 50) |
1e-176 |
rs3812163 |
5 |
GCST90468178 |
no MR -> candidate analysis |
| What is your height? (cm, inv-normal transformed) |
2e-143 |
rs9392172 |
2 |
GCST90475368 |
no MR -> candidate analysis |
| Circulating BMP6 levels |
1e-123 |
rs12198986 |
2 |
GCST90859741 |
no MR -> candidate analysis |
| Height (baseline) |
6e-122 |
rs11243202 |
22 |
GCST90565843 |
no MR -> candidate analysis |
| Body shape phenotype PC2 |
2e-109 |
rs11243202 |
2 |
GCST90832990 |
no MR -> candidate analysis |
| BMP6 protein levels |
2e-106 |
rs12198986 |
2 |
GCST90468454 |
no MR -> candidate analysis |
| Appendicular lean mass |
3e-57 |
rs11243202 |
2 |
GCST90000025 |
no MR -> candidate analysis |
| Height (standard GWA) |
2e-46 |
rs7741360 |
1 |
GCST90267284 |
no MR -> candidate analysis |
| …and 95 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 506 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 |
| Tangier disease |
0.919 |
— |
established (curated) |
no MR -> candidate analysis |
| osteoarthritis, knee |
0.735 |
— |
common-variant locus |
MR: beta=0.243, p=0.133 (trans) |
| Hernia |
0.663 |
— |
common-variant locus |
MR: beta=0.142, p=0.144 (trans) |
| osteoarthritis, hip |
0.665 |
— |
common-variant locus |
MR: beta=-0.199, p=0.205 (trans) |
| Abnormality of the skeletal system |
0.614 |
— |
common-variant locus |
no MR -> candidate analysis |
| Hallux rigidus |
0.585 |
— |
common-variant locus |
no MR -> candidate analysis |
| Abnormal meniscus morphology |
0.582 |
— |
common-variant locus |
no MR -> candidate analysis |
| osteoarthritis |
0.565 |
— |
common-variant locus |
MR: beta=0.243, p=0.133 (trans) |
| sleep apnea syndrome |
0.538 |
— |
common-variant locus |
no MR -> candidate analysis |
| injury |
0.537 |
— |
common-variant locus |
MR: beta=0.394, p=0.118 (trans) |
| Inguinal hernia |
0.535 |
— |
common-variant locus |
no MR -> candidate analysis |
| medical procedure |
0.513 |
— |
common-variant locus |
no MR -> candidate analysis |
| Umbilical hernia |
0.506 |
— |
common-variant locus |
no MR -> candidate analysis |
| spinal stenosis |
0.49 |
— |
common-variant locus |
no MR -> candidate analysis |
| total knee arthroplasty |
0.477 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 10 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 |
0 known modulators (Bone morphogenetic protein 6) |
| gnomAD constraint |
pLI=1, LOEUF=0.471 — LoF-INTOLERANT |
| GWAS Catalog |
123 unique SNPs / 294 rows |
| ClinVar |
169 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 506 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 ‘BMP6’ and resolved to ‘Bone morphogenetic protein 6’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 169 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 107 traits by best p-value, aggregated from 233 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/P22004 — 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/ENSG00000153162/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3286078/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/BMP6 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/BMP6 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=BMP6%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/BMP6 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:17:37 · 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