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 |
|---|---|---|---|---|---|---|---|
| Non-cancer illness code self-reported: retinal detachment | 0.315 | 0.0972 | 0.0012 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: kidney stone or ureter stone or bladder stone | 0.202 | 0.0702 | 0.00396 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K20 Oesophagitis | 0.18 | 0.064 | 0.00482 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M72 Fibroblastic disorders | 0.215 | 0.0837 | 0.0103 | Wald ratio | 1 | cis | NA |
| Schizophrenia | -0.0726 | 0.0331 | 0.0281 | Wald ratio | 1 | cis | NA |
| Eczema | 0.126 | 0.0589 | 0.0317 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R55 Syncope and collapse | 0.145 | 0.0698 | 0.0377 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: depression | 0.0608 | 0.0294 | 0.0384 | Wald ratio | 1 | cis | NA |
| High grade serous ovarian cancer | -0.101 | 0.0498 | 0.0424 | Wald ratio | 1 | cis | NA |
| Ovarian cancer | -0.0823 | 0.0422 | 0.0514 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema | -0.0686 | 0.036 | 0.057 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R11 Nausea and vomiting | -0.289 | 0.166 | 0.0821 | Wald ratio | 1 | cis | NA |
| …and 62 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
52 association rows across 27 traits (40 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 |
|---|---|---|---|---|---|
| CPQ protein levels | 3e-265 | rs141107654 | 11 | GCST90468846 | no MR -> candidate analysis |
| Carboxypeptidase Q levels | 2e-154 | rs148684432 | 7 | GCST90246882 | no MR -> candidate analysis |
| Serum levels of protein CPQ | 2e-118 | rs148684432 | 3 | GCST90090681 | no MR -> candidate analysis |
| Blood protein levels | 7e-58 | rs145746079 | 1 | GCST006585 | no MR -> candidate analysis |
| Cerebrospinal fluid protein CPQ levels | 3e-28 | rs148684432 | 1 | GCST90944728 | no MR -> candidate analysis |
| Carboxypeptidase Q level in Chronic kidney disease with hype | 4e-28 | rs34088584 | 1 | GCST90239344 | no MR -> candidate analysis |
| Type 2 diabetes | 6e-13 | rs149364428 | 2 | GCST010555 | no MR -> candidate analysis |
| Height | 3e-12 | rs2583503 | 3 | GCST90245848 | no MR -> candidate analysis |
| Migraine | 2e-11 | rs1835740 | 1 | GCST000782 | MR: beta=0.0332, p=0.433 (cis) |
| Educational attainment | 1e-10 | rs59093198 | 1 | GCST90105038 | no MR -> candidate analysis |
| Age at first sexual intercourse | 3e-10 | rs10955084 | 1 | GCST90000047 | no MR -> candidate analysis |
| Refractive error | 1e-9 | rs2464494 | 2 | GCST90841196 | no MR -> candidate analysis |
| …and 15 more traits (see JSON) |
Top diseases by Open Targets association (of 306 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 |
|---|---|---|---|---|
| attention deficit-hyperactivity disorder | 0.553 | — | common-variant locus | no MR -> candidate analysis |
| risk-taking behaviour | 0.553 | — | common-variant locus | no MR -> candidate analysis |
| type 2 diabetes mellitus | 0.533 | — | common-variant locus | no MR -> candidate analysis |
| facial nerve disorder | 0.502 | — | common-variant locus | no MR -> candidate analysis |
| poisoning | 0.433 | — | common-variant locus | no MR -> candidate analysis |
| pneumococcal pneumonia | 0.433 | — | common-variant locus | no MR -> candidate analysis |
| eustachian tube disorder | 0.427 | — | common-variant locus | no MR -> candidate analysis |
| alopecia areata | 0.382 | — | common-variant locus | no MR -> candidate analysis |
| lacrimal apparatus disorder | 0.262 | — | common-variant locus | no MR -> candidate analysis |
| medical procedure | 0.108 | — | common-variant locus | no MR -> candidate analysis |
| trauma complication | 0.108 | — | common-variant locus | no MR -> candidate analysis |
| complication | 0.108 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of refraction | 0.1 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.099 | — | common-variant locus | no MR -> candidate analysis |
| ulcerative colitis | 0.081 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 15 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 | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=6.8e-11, LOEUF=1.07 — LoF-tolerant |
| GWAS Catalog | 54 unique SNPs / 101 rows |
| ClinVar | 135 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 306 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 ‘CPQ’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 135 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 27 traits by best p-value, aggregated from 52 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/Q9Y646 — 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/ENSG00000104324/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CPQ — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CPQ — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CPQ%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CPQ — GWAS Catalog search API (live; release not exposed)