Protein Dossier — CSF1 (Macrophage colony-stimulating 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 |
| Forced vital capacity (FVC) |
-0.0431 |
0.0132 |
0.0011 |
Wald ratio |
1 |
cis |
NA |
| HDL cholesterol |
-0.105 |
0.0333 |
0.00169 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: anxiety or panic attacks |
0.294 |
0.105 |
0.0051 |
Wald ratio |
1 |
cis |
NA |
| Cancer code self-reported: malignant melanoma |
0.342 |
0.133 |
0.01 |
Wald ratio |
1 |
cis |
NA |
| Systolic blood pressure automated reading |
0.0406 |
0.0165 |
0.0138 |
Wald ratio |
1 |
cis |
NA |
| Forced expiratory volume in 1-second (FEV1) |
-0.0338 |
0.0139 |
0.0154 |
Wald ratio |
1 |
cis |
NA |
| Lumbar spine bone mineral density |
-0.14 |
0.0581 |
0.0162 |
Wald ratio |
1 |
cis |
NA |
| Femoral neck bone mineral density |
-0.12 |
0.0499 |
0.0163 |
Wald ratio |
1 |
cis |
NA |
| Neo-conscientiousness |
-1.19 |
0.504 |
0.0187 |
Wald ratio |
1 |
cis |
NA |
| Coronary heart disease |
0.145 |
0.0633 |
0.0225 |
Wald ratio |
1 |
cis |
NA |
| Mean platelet volume |
-0.018 |
0.008 |
0.0244 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I83 Varicose veins of lower extremities |
0.203 |
0.0928 |
0.0285 |
Wald ratio |
1 |
cis |
NA |
| …and 93 more outcomes (see JSON) |
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|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3738_54_1 |
CSF-1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
244 association rows across 166 traits (236 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 CSF1 levels (id: OID00562_OID20719) |
2e-231 |
rs17610659 |
2 |
GCST90859911 |
no MR -> candidate analysis |
| BTN2A1/CSF1 protein level ratio |
1e-211 |
rs1058885 |
1 |
GCST90313541 |
no MR -> candidate analysis |
| CSF1/IFNGR1 protein level ratio |
6e-199 |
rs1058885 |
1 |
GCST90314283 |
no MR -> candidate analysis |
| CSF1/LTBR protein level ratio |
7e-197 |
rs1058885 |
1 |
GCST90314287 |
no MR -> candidate analysis |
| CSF1 protein levels |
9e-180 |
rs17610659 |
4 |
GCST90468881 |
no MR -> candidate analysis |
| Circulating CSF1 levels (id: OID00843_OID20719) |
8e-179 |
rs17610659 |
2 |
GCST90860168 |
no MR -> candidate analysis |
| CSF1/SEMA3F protein level ratio |
3e-140 |
rs7540934 |
1 |
GCST90314288 |
no MR -> candidate analysis |
| Aspartate aminotransferase levels |
9e-115 |
rs333948 |
11 |
GCST90662897 |
no MR -> candidate analysis |
| CSF1/IL10RB protein level ratio |
3e-95 |
rs6675402 |
1 |
GCST90314284 |
no MR -> candidate analysis |
| Macrophage colony-stimulating factor 1 levels |
2e-61 |
rs11579145 |
2 |
GCST90012018 |
no MR -> candidate analysis |
| Aspartate aminotransferase levels (UKB data field 30650) |
3e-54 |
rs333947 |
1 |
GCST90468063 |
no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) |
4e-48 |
rs333947 |
3 |
GCST90838669 |
no MR -> candidate analysis |
| …and 154 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 2136 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 |
| type 2 diabetes mellitus |
0.595 |
— |
common-variant locus |
no MR -> candidate analysis |
| metabolic syndrome |
0.489 |
— |
common-variant locus |
no MR -> candidate analysis |
| otosclerosis |
0.434 |
— |
common-variant locus |
no MR -> candidate analysis |
| adult-onset Still disease |
0.378 |
— |
common-variant locus |
no MR -> candidate analysis |
| secondary malignant neoplasm |
0.19 |
— |
common-variant locus |
no MR -> candidate analysis |
| response to statin |
0.162 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 6 rows above, 6 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 (Macrophage colony-stimulating factor 1) |
| gnomAD constraint |
pLI=1, LOEUF=0.321 — LoF-INTOLERANT |
| GWAS Catalog |
69 unique SNPs / 138 rows |
| ClinVar |
121 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 2136 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 ‘CSF1’ and resolved to ‘Macrophage colony-stimulating factor 1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 121 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 166 traits by best p-value, aggregated from 244 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/P09603 — 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/ENSG00000184371/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3989382/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CSF1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CSF1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CSF1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CSF1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:05:32 · 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