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 |
|---|---|---|---|---|---|---|---|
| Height | -0.0698 | 0.0131 | 1.08e-07 | Wald ratio | 1 | cis | 0.845 |
| Serum cystatin C (eGFRcys) | -0.0267 | 0.00821 | 0.00115 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hyperthyroidism or thyrotoxicosis | 0.301 | 0.0936 | 0.00132 | Wald ratio | 1 | cis | NA |
| Packed cell volume | -0.22 | 0.0755 | 0.00352 | Wald ratio | 1 | cis | NA |
| Forced vital capacity (FVC) | -0.0251 | 0.00884 | 0.00452 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] | -0.294 | 0.105 | 0.00536 | Wald ratio | 1 | cis | NA |
| Haemoglobin concentration | -0.0661 | 0.0242 | 0.00636 | Wald ratio | 1 | cis | NA |
| Neo-conscientiousness | -0.864 | 0.326 | 0.00802 | Wald ratio | 1 | cis | NA |
| Serum creatinine (eGFRcrea) | 0.00944 | 0.00378 | 0.0124 | Wald ratio | 1 | cis | NA |
| Red blood cell count | -0.0222 | 0.00944 | 0.0189 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: iron deficiency anaemia | 0.252 | 0.117 | 0.0308 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema | 0.0938 | 0.0437 | 0.0318 | Wald ratio | 1 | cis | NA |
| …and 98 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
82 association rows across 46 traits (71 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 |
|---|---|---|---|---|---|
| COL15A1 protein levels | 1e-168 | rs10819566 | 3 | GCST90468811 | no MR -> candidate analysis |
| Height | 2e-135 | rs2075663 | 11 | GCST90245848 | MR: beta=-0.0698, p=1.08e-07 (cis) |
| Collagen alpha-1(XV) chain levels | 2e-55 | rs7857774 | 2 | GCST90247088 | no MR -> candidate analysis |
| height (minimum, inv-normal transformed) | 1e-40 | rs7034716 | 2 | GCST90475365 | no MR -> candidate analysis |
| A0A087X0K0;COFA1 protein level (protein group normalized int | 9e-37 | rs57410362 | 1 | GCST90570762 | no MR -> candidate analysis |
| Cerebrospinal fluid protein COL15A1 levels | 6e-32 | rs10988442 | 1 | GCST90944719 | no MR -> candidate analysis |
| Standing height (UKB data field 50) | 7e-30 | rs989393 | 1 | GCST90468178 | no MR -> candidate analysis |
| Pulse pressure | 1e-24 | rs2075663 | 12 | GCST90292476 | no MR -> candidate analysis |
| Core binding factor acute myeloid leukemia | 2e-23 | rs1010403; rs4742747; rs911932; rs3758312; rs7045933; rs6478963; rs1333869; rs16918095 | 2 | GCST008413 | no MR -> candidate analysis |
| Height (baseline) | 5e-23 | rs989393 | 2 | GCST90565843 | no MR -> candidate analysis |
| Collagen alpha-1(XV) chain levels (COL15A1.8974.172.3) | 2e-19 | rs41305481 | 1 | GCST90240747 | no MR -> candidate analysis |
| Serum levels of protein COL15A1 | 2e-18 | rs12380469 | 1 | GCST90090420 | no MR -> candidate analysis |
| …and 34 more traits (see JSON) |
Top diseases by Open Targets association (of 397 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 |
|---|---|---|---|---|
| atrial fibrillation | 0.782 | — | common-variant locus | MR: beta=-0.128, p=0.278 (cis) |
| chronic obstructive pulmonary disease | 0.761 | — | common-variant locus | no MR -> candidate analysis |
| hypothyroidism | 0.644 | — | common-variant locus | MR: beta=0.0938, p=0.0318 (cis) |
| respiratory system disorder | 0.505 | — | common-variant locus | no MR -> candidate analysis |
| asthma | 0.451 | — | common-variant locus | no MR -> candidate analysis |
| Conductive hearing impairment | 0.462 | — | common-variant locus | no MR -> candidate analysis |
| atrial flutter | 0.46 | — | common-variant locus | MR: beta=-0.128, p=0.278 (cis) |
| psoriatic arthritis | 0.445 | — | common-variant locus | no MR -> candidate analysis |
| deep vein thrombosis | 0.403 | — | common-variant locus | no MR -> candidate analysis |
| cardiac arrest | 0.421 | — | common-variant locus | no MR -> candidate analysis |
| Eczematoid dermatitis | 0.406 | — | common-variant locus | no MR -> candidate analysis |
| Abnormal thrombosis | 0.394 | — | common-variant locus | no MR -> candidate analysis |
| allergic disease | 0.394 | — | common-variant locus | no MR -> candidate analysis |
| ovarian dysfunction | 0.328 | — | common-variant locus | no MR -> candidate analysis |
Of the 14 rows above, 11 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.
| Layer | Result |
|---|---|
| ChEMBL druggability | 2 known modulators (Collagen) |
| gnomAD constraint | pLI=3.3e-24, LOEUF=0.783 — LoF-tolerant |
| GWAS Catalog | 104 unique SNPs / 222 rows |
| ClinVar | 376 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 397 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 ‘COL15A1’ and resolved to ‘Collagen’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 376 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 46 traits by best p-value, aggregated from 82 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/P39059 — 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/ENSG00000204291/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2364188/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/COL15A1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/COL15A1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=COL15A1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/COL15A1 — GWAS Catalog search API (live; release not exposed)