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 |
| Femoral neck bone mineral density |
-0.0686 |
0.0167 |
4.21e-05 |
Wald ratio |
1 |
cis |
NA |
| Sleep duration |
-0.015 |
0.00421 |
3.65e-04 |
Wald ratio |
1 |
cis |
NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
-0.0542 |
0.0168 |
0.00125 |
Wald ratio |
1 |
cis |
NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
-0.0426 |
0.0141 |
0.00256 |
Wald ratio |
1 |
cis |
NA |
| Lung adenocarcinoma |
0.202 |
0.0675 |
0.00276 |
Wald ratio |
1 |
cis |
NA |
| Age at menarche |
0.0359 |
0.0124 |
0.0038 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Glaucoma |
-0.134 |
0.0516 |
0.00958 |
Wald ratio |
1 |
cis |
NA |
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
-0.0637 |
0.0256 |
0.0127 |
Wald ratio |
1 |
cis |
NA |
| Amygdala volume |
12.4 |
5.17 |
0.0167 |
Wald ratio |
1 |
cis |
NA |
| Birth weight |
-0.0186 |
0.00829 |
0.0249 |
Wald ratio |
1 |
cis |
NA |
| LDL cholesterol |
0.0258 |
0.0117 |
0.027 |
Wald ratio |
1 |
cis |
NA |
| HOMA-B |
-0.0157 |
0.0074 |
0.0339 |
Wald ratio |
1 |
cis |
NA |
| …and 106 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3283_21_1 |
BGH3 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
68 association rows across 34 traits (62 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 TGFBI levels |
2e-1848 |
rs13159365 |
2 |
GCST90860488 |
no MR -> candidate analysis |
| Leukocyte cell-derived chemotaxin-2 levels |
2e-842 |
rs2428665 |
1 |
GCST90248271 |
no MR -> candidate analysis |
| Transforming growth factor-beta-induced protein ig-h3 levels |
5e-510 |
rs13159365 |
7 |
GCST90249854 |
no MR -> candidate analysis |
| TNC protein levels |
5e-272 |
rs13159365 |
1 |
GCST90470895 |
no MR -> candidate analysis |
| Circulating TNC levels |
9e-270 |
rs13159365 |
2 |
GCST90860463 |
no MR -> candidate analysis |
| LECT2 protein levels |
1e-119 |
rs114094505 |
12 |
GCST90469751 |
no MR -> candidate analysis |
| Serum levels of protein TGFBI |
2e-99 |
rs13159365 |
1 |
GCST90088288 |
no MR -> candidate analysis |
| Transforming growth factor-beta-induced protein ig-h3 levels |
5e-78 |
rs13159365 |
1 |
GCST90243062 |
no MR -> candidate analysis |
| TGFBI protein levels |
2e-73 |
rs13159365 |
10 |
GCST90453292 |
no MR -> candidate analysis |
| Blood protein levels |
4e-61 |
rs17689879 |
3 |
GCST006585 |
no MR -> candidate analysis |
| Serum levels of protein LECT2 |
7e-55 |
rs2526145 |
1 |
GCST90089250 |
no MR -> candidate analysis |
| Circulating MATN2 levels |
8e-50 |
rs13159365 |
1 |
GCST90860586 |
no MR -> candidate analysis |
| …and 22 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 1017 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 |
| lattice corneal dystrophy type I |
0.916 |
— |
established (curated) |
no MR -> candidate analysis |
| Reis-Bucklers corneal dystrophy |
0.806 |
— |
established (curated) |
no MR -> candidate analysis |
| Reis-Bücklers corneal dystrophy |
0.806 |
— |
established (curated) |
no MR -> candidate analysis |
| granular corneal dystrophy type I |
0.8 |
— |
established (curated) |
no MR -> candidate analysis |
| granular corneal dystrophy type II |
0.776 |
— |
established (curated) |
no MR -> candidate analysis |
| epithelial basement membrane dystrophy |
0.796 |
— |
established (curated) |
no MR -> candidate analysis |
| Microcystic corneal dystrophy |
0.796 |
— |
established (curated) |
no MR -> candidate analysis |
| Thiel-Behnke corneal dystrophy |
0.756 |
— |
established (curated) |
no MR -> candidate analysis |
| epithelial-stromal TGFBI dystrophy |
0.775 |
— |
established (curated) |
no MR -> candidate analysis |
| corneal dystrophy |
0.6 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary disease |
0.683 |
— |
established (curated) |
no MR -> candidate analysis |
| glomerulonephritis |
0.463 |
— |
common-variant locus |
no MR -> candidate analysis |
| Varicose veins |
0.445 |
— |
common-variant locus |
MR: beta=0.0412, p=0.255 (cis) |
| Granular corneal dystrophy |
0.426 |
— |
established (curated) |
no MR -> candidate analysis |
| benign prostatic hyperplasia |
0.433 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 14 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 (Transforming growth factor-beta-induced protein ig-h3) |
| gnomAD constraint |
pLI=1.1e-11, LOEUF=0.858 — LoF-tolerant |
| GWAS Catalog |
100 unique SNPs / 200 rows |
| ClinVar |
267 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 1017 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 ‘TGFBI’ and resolved to ‘Transforming growth factor-beta-induced protein ig-h3’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 267 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 34 traits by best p-value, aggregated from 68 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/Q15582 — 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/ENSG00000120708/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4295829/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/TGFBI — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/TGFBI — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=TGFBI%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/TGFBI — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T05:20:20 · 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