Protein Dossier — MMP1 (Interstitial collagenase)
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 |
| Diagnoses - main ICD10: K20 Oesophagitis |
0.201 |
0.0595 |
7.43e-04 |
Inverse variance weighted |
2 |
trans |
NA |
| Diagnoses - main ICD10: K20 Oesophagitis |
0.201 |
0.0595 |
7.43e-04 |
Inverse variance weighted |
2 |
cis |
NA |
| Fractured bone site(s): Arm |
0.192 |
0.0597 |
0.00128 |
Inverse variance weighted |
2 |
trans |
NA |
| Fractured bone site(s): Arm |
0.192 |
0.0597 |
0.00128 |
Inverse variance weighted |
2 |
cis |
NA |
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
-0.0912 |
0.0338 |
0.00689 |
Inverse variance weighted |
2 |
trans |
NA |
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
-0.0912 |
0.0338 |
0.00689 |
Inverse variance weighted |
2 |
cis |
NA |
| Non-cancer illness code self-reported: diverticular disease or diverticulitis |
0.128 |
0.0598 |
0.0318 |
Inverse variance weighted |
2 |
trans |
NA |
| Non-cancer illness code self-reported: diverticular disease or diverticulitis |
0.128 |
0.0598 |
0.0318 |
Inverse variance weighted |
2 |
cis |
NA |
| Intracranial volume |
1.3e+04 |
6.16e+03 |
0.0343 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R14 Flatulence and related conditions |
0.425 |
0.205 |
0.0383 |
Inverse variance weighted |
2 |
trans |
NA |
| Diagnoses - main ICD10: R14 Flatulence and related conditions |
0.425 |
0.205 |
0.0383 |
Inverse variance weighted |
2 |
cis |
NA |
| Non-cancer illness code self-reported: anxiety or panic attacks |
0.101 |
0.056 |
0.0709 |
Inverse variance weighted |
2 |
trans |
NA |
| …and 85 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4924_32_1 |
MMP-1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
17 association rows across 7 traits (17 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 |
| MMP10 protein levels |
1e-94 |
rs657043 |
4 |
GCST90469915 |
no MR -> candidate analysis |
| Serum levels of protein MMP10 |
5e-71 |
rs17885595 |
3 |
GCST90090215 |
no MR -> candidate analysis |
| MMP1 protein levels |
2e-57 |
rs139018071 |
5 |
GCST90469919 |
no MR -> candidate analysis |
| MMP12 protein levels |
2e-48 |
rs470747 |
1 |
GCST90469916 |
no MR -> candidate analysis |
| Interstitial collagenase levels |
2e-46 |
rs17879749 |
2 |
GCST90248110 |
no MR -> candidate analysis |
| Blood protein levels |
1e-42 |
rs17878931 |
1 |
GCST006585 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein MMP1 levels |
4e-17 |
rs17879749 |
1 |
GCST90944430 |
no MR -> candidate analysis |
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 1160 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 |
| ovarian dysfunction |
0.541 |
— |
common-variant locus |
no MR -> candidate analysis |
| poisoning |
0.512 |
— |
common-variant locus |
no MR -> candidate analysis |
| response to xenobiotic stimulus |
0.512 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 3 rows above, 3 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 |
5 known modulators (Interstitial collagenase) |
| gnomAD constraint |
pLI=2.6e-18, LOEUF=1.3 — LoF-tolerant |
| GWAS Catalog |
153 unique SNPs / 386 rows |
| ClinVar |
172 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 1160 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 ‘MMP1’ and resolved to ‘Interstitial collagenase’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 172 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 7 of 7 traits by best p-value, aggregated from 17 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/P03956 — 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/ENSG00000196611/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL332/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/MMP1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/MMP1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=MMP1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/MMP1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:49:26 · 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