MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
| Outcome | beta | se | p | method | nSNP | cis/trans | coloc |
|---|---|---|---|---|---|---|---|
| Body mass index (BMI) | -0.0267 | 0.00685 | 1.00e-04 | Inverse variance weighted | 2 | trans | NA |
| Body mass index (BMI) | -0.0267 | 0.00685 | 1.00e-04 | Inverse variance weighted | 2 | trans | NA |
| Serum creatinine (eGFRcrea) | -0.0114 | 0.00328 | 5.05e-04 | Wald ratio | 1 | trans | NA |
| Weight | -0.0236 | 0.00801 | 0.00322 | Inverse variance weighted | 2 | trans | NA |
| Weight | -0.0236 | 0.00801 | 0.00322 | Inverse variance weighted | 2 | trans | NA |
| Subjective well being | -0.0285 | 0.0107 | 0.00766 | Wald ratio | 1 | trans | NA |
| Forced expiratory volume in 1-second (FEV1) | -0.015 | 0.00593 | 0.0112 | Inverse variance weighted | 2 | trans | NA |
| Forced expiratory volume in 1-second (FEV1) | -0.015 | 0.00593 | 0.0112 | Inverse variance weighted | 2 | trans | NA |
| Chronic kidney disease | 0.132 | 0.0535 | 0.0136 | Wald ratio | 1 | trans | NA |
| Neo-openness to experience | 0.626 | 0.258 | 0.0153 | Wald ratio | 1 | trans | NA |
| HbA1C | -0.0289 | 0.0125 | 0.0207 | Wald ratio | 1 | trans | NA |
| Mean cell volume | 0.213 | 0.0934 | 0.0222 | Wald ratio | 1 | trans | NA |
| …and 157 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
17 association rows across 12 traits (13 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 COL1A1 levels | 3e-55 | rs147266928 | 2 | GCST90859986 | no MR -> candidate analysis |
| COL1A1 protein levels | 1e-45 | rs147266928 | 2 | GCST90468813 | no MR -> candidate analysis |
| Estimated bone mineral density | 2e-31 | rs79409705 | 1 | GCST90726625 | no MR -> candidate analysis |
| Heel bone mineral density | 7e-24 | rs79409705 | 3 | GCST006979 | MR: beta=-0.0234, p=0.142 (trans) |
| Corneal resistance factor (MTAG) | 1e-18 | rs2586494 | 1 | GCST90102517 | no MR -> candidate analysis |
| Central corneal thickness (MTAG) | 1e-13 | rs2586494 | 1 | GCST90102518 | no MR -> candidate analysis |
| Total PHF-tau (SNP x SNP interaction) | 4e-12 | rs2857396 x rs2121005 | 1 | GCST010340 | no MR -> candidate analysis |
| Keratoconus | 3e-9 | rs2075556 | 1 | GCST90013442 | no MR -> candidate analysis |
| Blood cell traits (multivariate analysis) | 1e-8 | rs3840870 | 1 | GCST008338 | no MR -> candidate analysis |
| Breast cancer | 8e-8 | rs2075555 | 1 | GCST000079 | MR: beta=0.0639, p=0.102 (trans) |
| Opioid addiction | 8e-7 | rs1800695 | 2 | GCST90244556 | no MR -> candidate analysis |
| Memory decline | 4e-6 | rs28574643 | 1 | GCST90448861 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 4642 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 |
|---|---|---|---|---|
| osteogenesis imperfecta type 2 | 0.951 | — | established (curated) | no MR -> candidate analysis |
| osteogenesis imperfecta type 4 | 0.934 | — | established (curated) | no MR -> candidate analysis |
| osteogenesis imperfecta type 3 | 0.936 | — | established (curated) | no MR -> candidate analysis |
| osteogenesis imperfecta type 1 | 0.937 | — | established (curated) | no MR -> candidate analysis |
| osteogenesis imperfecta | 0.937 | 0.911 | established (curated) | no MR -> candidate analysis |
| Caffey disease | 0.847 | — | established (curated) | no MR -> candidate analysis |
| Ehlers-Danlos syndrome, arthrochalasic type | 0.867 | — | established (curated) | no MR -> candidate analysis |
| combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 0.928 | — | established (curated) | no MR -> candidate analysis |
| Ehlers-Danlos syndrome, arthrochalasia type | 0.867 | — | established (curated) | no MR -> candidate analysis |
| osteoporosis | 0.92 | — | established (curated) | MR: beta=-0.0731, p=0.219 (trans) |
| Ehlers-Danlos syndrome, classic type | 0.596 | — | established (curated) | no MR -> candidate analysis |
| Ehlers-Danlos syndrome, classic type, 1 | 0.292 | — | established (curated) | no MR -> candidate analysis |
| Ehlers-Danlos syndrome | 0.772 | — | established (curated) | no MR -> candidate analysis |
| bone disorder | 0.906 | 0.906 | exploratory rare-variant signal | MR: beta=0.23, p=0.36 (trans) |
| osteochondrodysplasia | 0.891 | 0.891 | exploratory rare-variant signal | no MR -> candidate analysis |
Of the 15 rows above, 13 have no MR estimate in this resource. Across all retrieved diseases for this gene: 4 exploratory rare-variant signal(s), 0 multi-layer (allelic-series candidate) pair(s). Final triage still belongs to a statistical geneticist.
| Layer | Result |
|---|---|
| ChEMBL druggability | 0 known modulators (COL1A1 promoter) |
| gnomAD constraint | pLI=1, LOEUF=0.155 — LoF-INTOLERANT |
| GWAS Catalog | 50 unique SNPs / 100 rows |
| ClinVar | 3890 records; 13 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | 2 clinical annotations across 2 drugs |
phenome — Top 30 of 4642 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 ‘COL1A1’ and resolved to ‘COL1A1 promoter’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 3890 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 12 of 12 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.uniprot: https://www.uniprot.org/uniprotkb/P02452 — 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/ENSG00000108821/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4845624/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/COL1A1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/COL1A1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=COL1A1%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=COL1A1 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/COL1A1 — GWAS Catalog search API (live; release not exposed)