Protein Dossier — CCL1 (C-C motif chemokine 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 |
| Childhood intelligence |
-0.148 |
0.049 |
0.00257 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: hypopituitarism |
0.719 |
0.264 |
0.00649 |
Wald ratio |
1 |
trans |
NA |
| Body mass index (BMI) |
0.0242 |
0.00919 |
0.00862 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: R11 Nausea and vomiting |
0.283 |
0.112 |
0.0113 |
Wald ratio |
1 |
trans |
NA |
| Knee osteoarthritis |
0.277 |
0.11 |
0.0119 |
Wald ratio |
1 |
trans |
NA |
| Age at menarche |
-0.054 |
0.0222 |
0.015 |
Wald ratio |
1 |
trans |
NA |
| Ischemic stroke |
0.147 |
0.0608 |
0.0158 |
Wald ratio |
1 |
trans |
NA |
| Microalbuminuria |
0.191 |
0.0792 |
0.016 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: I48 Atrial fibrillation and flutter |
-0.279 |
0.117 |
0.0173 |
Wald ratio |
1 |
trans |
NA |
| Sodium in urine |
0.0202 |
0.00905 |
0.0253 |
Wald ratio |
1 |
trans |
NA |
| Creatinine (enzymatic) in urine |
0.0195 |
0.00881 |
0.0271 |
Wald ratio |
1 |
trans |
NA |
| Small vessel disease |
0.294 |
0.134 |
0.0279 |
Wald ratio |
1 |
trans |
NA |
| …and 107 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2770_51_2 |
I-309 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
21 association rows across 15 traits (16 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 CCL13 levels (id: OID00504_OID20655) |
2e-334 |
rs159314 |
1 |
GCST90859860 |
no MR -> candidate analysis |
| CCL13/CCL2 protein level ratio |
2e-277 |
rs16969619 |
1 |
GCST90313675 |
no MR -> candidate analysis |
| Circulating CCL13 levels (id: OID00768_OID20655) |
7e-248 |
rs159314 |
1 |
GCST90860103 |
no MR -> candidate analysis |
| CCL11/CCL13 protein level ratio |
9e-236 |
rs16969619 |
1 |
GCST90313671 |
no MR -> candidate analysis |
| Serum levels of protein CCL7 |
2e-26 |
rs182223589 |
1 |
GCST90088794 |
no MR -> candidate analysis |
| CCL8 protein levels |
2e-25 |
rs118139462 |
7 |
GCST90468586 |
no MR -> candidate analysis |
| RANTES levels |
2e-9 |
rs295070 |
1 |
GCST90428431 |
no MR -> candidate analysis |
| Protein quantitative trait loci (liver) |
2e-8 |
rs159250 |
1 |
GCST011427 |
no MR -> candidate analysis |
| Gut microbiome abundance (class Clostridium sensu stricto sp |
2e-8 |
rs80018508 |
1 |
GCST90569115 |
no MR -> candidate analysis |
| Chronic obstructive pulmonary disease or colon polyp (MTAG) |
2e-8 |
rs78975483 |
1 |
GCST90570621 |
no MR -> candidate analysis |
| Anti-hepatitis C virus antibody seropositivity |
8e-8 |
rs75125828 |
1 |
GCST90104165 |
no MR -> candidate analysis |
| Color vision defects (Tritan) |
5e-7 |
rs78565129 |
1 |
GCST90301671 |
no MR -> candidate analysis |
| …and 3 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 516 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 |
| alcohol drinking |
0.093 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 1 rows above, 1 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 |
not available — no ChEMBL target (undrugged) |
| gnomAD constraint |
pLI=0.00021, LOEUF=2.09 — LoF-tolerant |
| GWAS Catalog |
95 unique SNPs / 172 rows |
| ClinVar |
21 records; 5 pathogenic in sample of 21 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 516 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.
chembl — No ChEMBL target for ‘CCL1’.
clinvar — Pathogenic count is over the 21 record(s) retrieved, NOT over all 21 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 15 of 15 traits by best p-value, aggregated from 21 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/P22362 — 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 v3.0
phenome: https://platform.opentargets.org/target/ENSG00000108702/associations — Open Targets data release 26.06
gnomad: https://gnomad.broadinstitute.org/gene/CCL1 — gnomAD constraint via GraphQL API (reference genome GRCh38)
gwas: https://www.ebi.ac.uk/gwas/genes/CCL1 — GWAS Catalog REST (live; release not exposed by this endpoint)
clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CCL1%5Bgene%5D — ClinVar build Build260809-1055.1
gwas_traits: https://www.ebi.ac.uk/gwas/genes/CCL1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:30:24 · 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