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 |
-0.0656 |
0.012 |
4.16e-08 |
Wald ratio |
1 |
cis |
NA |
| Coronary heart disease |
-0.165 |
0.037 |
7.78e-06 |
Wald ratio |
1 |
cis |
NA |
| Systolic blood pressure automated reading |
-0.0346 |
0.00984 |
4.46e-04 |
Wald ratio |
1 |
cis |
NA |
| Heel bone mineral density (BMD) T-score automated |
0.0429 |
0.0125 |
5.75e-04 |
Wald ratio |
1 |
cis |
NA |
| Total cholesterol |
0.0436 |
0.0139 |
0.0017 |
Wald ratio |
1 |
cis |
NA |
| Age at menopause |
-0.232 |
0.0772 |
0.0027 |
Wald ratio |
1 |
cis |
NA |
| Myocardial infarction |
-0.121 |
0.0409 |
0.00302 |
Wald ratio |
1 |
cis |
NA |
| Thalamus volume |
-73 |
25.7 |
0.00447 |
Wald ratio |
1 |
cis |
NA |
| Fractured bone site(s): Wrist |
0.161 |
0.0587 |
0.00608 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: migraine |
-0.182 |
0.067 |
0.00675 |
Wald ratio |
1 |
cis |
NA |
| HDL cholesterol |
0.0363 |
0.0135 |
0.00724 |
Wald ratio |
1 |
cis |
NA |
| Eczema |
-0.183 |
0.0689 |
0.00789 |
Wald ratio |
1 |
cis |
NA |
| …and 114 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2333_72_1 |
TGF-b1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
169 association rows across 112 traits (161 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 |
| ESAM/TGFB1 protein level ratio |
2e-437 |
rs73045269 |
1 |
GCST90314718 |
no MR -> candidate analysis |
| Circulating TGFB1 levels (id: OID00480_OID20621) |
4e-340 |
rs73045269 |
3 |
GCST90859840 |
no MR -> candidate analysis |
| TGFB1 protein levels |
2e-265 |
rs73045269 |
2 |
GCST90470843 |
no MR -> candidate analysis |
| Circulating TGFB1 levels (id: OID00785_OID20621) |
6e-259 |
rs73045269 |
3 |
GCST90860117 |
no MR -> candidate analysis |
| Bone mineral density mean |
7e-222 |
rs35247140 |
1 |
GCST90321120 |
no MR -> candidate analysis |
| AXL/VCAM1 protein level ratio |
1e-134 |
rs8109627 |
1 |
GCST90313423 |
no MR -> candidate analysis |
| AXL/IL18BP protein level ratio |
4e-134 |
rs8109627 |
1 |
GCST90313420 |
no MR -> candidate analysis |
| CEACAM21 protein levels |
1e-111 |
rs8109627 |
2 |
GCST90468694 |
no MR -> candidate analysis |
| Blood protein levels |
1e-84 |
rs1800470 |
3 |
GCST006585 |
no MR -> candidate analysis |
| Circulating LTBP3 levels |
9e-82 |
rs73045269 |
1 |
GCST90860758 |
no MR -> candidate analysis |
| Height |
1e-80 |
rs11466321 |
1 |
GCST90245848 |
MR: beta=-0.0656, p=4.16e-08 (cis) |
| LTBP3 protein levels |
3e-79 |
rs73045269 |
1 |
GCST90469815 |
no MR -> candidate analysis |
| …and 100 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 4097 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 |
| Camurati-Engelmann disease |
0.886 |
— |
established (curated) |
no MR -> candidate analysis |
| inflammatory bowel disease, immunodeficiency, and encephalopathy |
0.792 |
— |
established (curated) |
no MR -> candidate analysis |
| Encephalopathy |
0.745 |
— |
established (curated) |
no MR -> candidate analysis |
| IL10-related early-onset inflammatory bowel disease |
0.745 |
— |
established (curated) |
no MR -> candidate analysis |
| cystic fibrosis |
0.565 |
— |
established (curated) |
no MR -> candidate analysis |
| coronary artery disorder |
0.64 |
— |
common-variant locus |
no MR -> candidate analysis |
| hereditary disease |
0.675 |
— |
established (curated) |
no MR -> candidate analysis |
| coronary atherosclerosis |
0.587 |
— |
common-variant locus |
no MR -> candidate analysis |
| Hematuria |
0.577 |
— |
common-variant locus |
no MR -> candidate analysis |
| heart disorder |
0.55 |
— |
common-variant locus |
no MR -> candidate analysis |
| myocardial infarction |
0.529 |
— |
common-variant locus |
MR: beta=-0.121, p=0.00302 (cis) |
| cardiovascular disorder |
0.498 |
— |
common-variant locus |
no MR -> candidate analysis |
| Microscopic hematuria |
0.479 |
— |
common-variant locus |
no MR -> candidate analysis |
| osteoarthritis |
0.431 |
— |
common-variant locus |
MR: beta=0.0597, p=0.0494 (cis) |
| essential hypertension |
0.453 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 13 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 |
3 known modulators (Transforming growth factor beta-1 proprotein) |
| gnomAD constraint |
pLI=0.11, LOEUF=0.637 — LoF-tolerant |
| GWAS Catalog |
124 unique SNPs / 291 rows |
| ClinVar |
555 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
4 clinical annotations across 3 drugs |
phenome — Top 30 of 4097 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 ‘TGFB1’ and resolved to ‘Transforming growth factor beta-1 proprotein’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 555 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 112 traits by best p-value, aggregated from 169 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/P01137 — 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/ENSG00000105329/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL1795178/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/TGFB1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/TGFB1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=TGFB1%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=TGFB1 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/TGFB1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T05:20:05 · 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