Protein Dossier — IGF1 (Insulin-like growth factor 1)
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 |
| Diastolic blood pressure automated reading |
0.0489 |
0.0085 |
8.67e-09 |
Wald ratio |
1 |
trans |
NA |
| Systolic blood pressure automated reading |
-0.0422 |
0.00849 |
6.69e-07 |
Wald ratio |
1 |
trans |
NA |
| Height |
-0.0375 |
0.0106 |
4.16e-04 |
Wald ratio |
1 |
trans |
NA |
| Squamous cell lung cancer |
-0.264 |
0.0886 |
0.00285 |
Wald ratio |
1 |
trans |
NA |
| Potassium in urine |
-0.023 |
0.00843 |
0.00638 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: asthma |
0.0572 |
0.022 |
0.00931 |
Wald ratio |
1 |
trans |
NA |
| Forced vital capacity (FVC) |
-0.0176 |
0.00681 |
0.00994 |
Wald ratio |
1 |
trans |
NA |
| Cancer code self-reported: small intestine or small bowel cancer |
0.591 |
0.231 |
0.0107 |
Wald ratio |
1 |
trans |
NA |
| Creatinine (enzymatic) in urine |
-0.02 |
0.00795 |
0.0118 |
Wald ratio |
1 |
trans |
NA |
| Forced expiratory volume in 1-second (FEV1) |
-0.0179 |
0.00718 |
0.0128 |
Wald ratio |
1 |
trans |
NA |
| Ischemic stroke |
-0.135 |
0.0581 |
0.0202 |
Wald ratio |
1 |
trans |
NA |
| Triglycerides |
-0.0393 |
0.0172 |
0.022 |
Wald ratio |
1 |
trans |
NA |
| …and 108 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2952_75_2 |
IGF-I |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
311 association rows across 130 traits (268 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 |
rs5742692 |
55 |
GCST90245848 |
MR: beta=-0.0375, p=4.16e-04 (trans) |
| Bone mineral density mean |
1e-300 |
rs151181954 |
2 |
GCST90321120 |
no MR -> candidate analysis |
| IGF 1 (UKB data field 30770) |
5e-239 |
rs11111274 |
5 |
GCST90468078 |
no MR -> candidate analysis |
| Standing height (UKB data field 50) |
2e-43 |
rs142187070 |
4 |
GCST90468178 |
no MR -> candidate analysis |
| Height (baseline) |
2e-38 |
rs703593 |
18 |
GCST90565843 |
no MR -> candidate analysis |
| Insulin-like growth factor 1 levels |
6e-35 |
rs1457596 |
6 |
GCST90019511 |
no MR -> candidate analysis |
| Appendicular lean mass |
3e-31 |
rs142187070 |
4 |
GCST90000025 |
no MR -> candidate analysis |
| Body shape phenotype PC2 |
7e-28 |
rs703593 |
2 |
GCST90832990 |
no MR -> candidate analysis |
| Unsupervised deep imaging phenotypes (UDIP-FA) |
1e-25 |
rs11111278 |
1 |
GCST90860937 |
no MR -> candidate analysis |
| Sex hormone-binding globulin levels adjusted for BMI |
3e-25 |
rs11111274 |
2 |
GCST90012110 |
no MR -> candidate analysis |
| Peak expiratory flow |
5e-25 |
rs10860865 |
3 |
GCST90244095 |
no MR -> candidate analysis |
| Total cerebellar volume |
2e-24 |
rs11111278 |
2 |
GCST90105075 |
no MR -> candidate analysis |
| …and 118 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 3944 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 |
| growth delay due to insulin-like growth factor type 1 deficiency |
0.761 |
— |
established (curated) |
no MR -> candidate analysis |
| Abnormality of the skeletal system |
0.717 |
— |
common-variant locus |
no MR -> candidate analysis |
| COVID-19 |
0.555 |
— |
common-variant locus |
no MR -> candidate analysis |
| preeclampsia |
0.509 |
— |
common-variant locus |
no MR -> candidate analysis |
| Uterine leiomyoma |
0.472 |
— |
common-variant locus |
no MR -> candidate analysis |
| Tietze syndrome |
0.484 |
— |
common-variant locus |
no MR -> candidate analysis |
| nodular goiter |
0.484 |
— |
common-variant locus |
no MR -> candidate analysis |
| upper respiratory tract disorder |
0.484 |
— |
common-variant locus |
no MR -> candidate analysis |
| breast cancer |
0.41 |
— |
common-variant locus |
MR: beta=-0.0815, p=0.0368 (trans) |
| Abnormality of refraction |
0.455 |
— |
common-variant locus |
no MR -> candidate analysis |
| breast neoplasm |
0.41 |
— |
common-variant locus |
MR: beta=0.0805, p=0.181 (trans) |
| estrogen-receptor positive breast cancer |
0.41 |
— |
common-variant locus |
no MR -> candidate analysis |
| acquired thrombocytopenia |
0.396 |
— |
common-variant locus |
no MR -> candidate analysis |
| obstructive sleep apnea syndrome |
0.347 |
— |
common-variant locus |
no MR -> candidate analysis |
| breast disorder |
0.386 |
— |
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 |
2 known modulators (Insulin-like growth factor 1) |
| gnomAD constraint |
pLI=0.78, LOEUF=0.664 — LoF-tolerant |
| GWAS Catalog |
167 unique SNPs / 402 rows |
| ClinVar |
213 records; 8 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 3944 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 ‘IGF1’ and resolved to ‘Insulin-like growth factor 1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 213 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 130 traits by best p-value, aggregated from 311 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/P05019 — 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/ENSG00000017427/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3217394/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/IGF1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/IGF1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=IGF1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/IGF1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:07:32 · 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