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 |
|---|---|---|---|---|---|---|---|
| Diagnoses - main ICD10: J33 Nasal polyp | 0.398 | 0.122 | 0.00112 | Wald ratio | 1 | cis | NA |
| Pulse rate | 0.0569 | 0.0217 | 0.00879 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N92 Excessive frequent and irregular menstruation | 0.183 | 0.0718 | 0.0109 | Wald ratio | 1 | cis | NA |
| Age at menarche | -0.0872 | 0.0343 | 0.011 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I83 Varicose veins of lower extremities | 0.182 | 0.0721 | 0.0115 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: mania or bipolar disorder or manic depression | 0.404 | 0.167 | 0.0152 | Wald ratio | 1 | cis | NA |
| Weight | 0.025 | 0.0109 | 0.0214 | Wald ratio | 1 | cis | NA |
| Height | 0.0375 | 0.0169 | 0.027 | Wald ratio | 1 | cis | NA |
| Alcohol intake frequency | -0.0381 | 0.0182 | 0.0365 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: arthritis (nos) | 0.236 | 0.114 | 0.0381 | Wald ratio | 1 | cis | NA |
| Heel bone mineral density (BMD) T-score automated | 0.0327 | 0.0159 | 0.0405 | Wald ratio | 1 | cis | NA |
| Large vessel disease | 0.356 | 0.174 | 0.0412 | Wald ratio | 1 | cis | NA |
| …and 89 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
46 association rows across 26 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 |
|---|---|---|---|---|---|
| Height | 1e-191 | rs11723641 | 15 | GCST90245848 | MR: beta=0.0375, p=0.027 (cis) |
| height (mean, inv-normal transformed) | 3e-123 | rs3756173 | 2 | GCST90475362 | no MR -> candidate analysis |
| Height (maximum, inv-normal transformed) | 1e-111 | rs3756173 | 2 | GCST90475359 | no MR -> candidate analysis |
| height (minimum, inv-normal transformed) | 9e-106 | rs3756173 | 2 | GCST90475365 | no MR -> candidate analysis |
| Carboxypeptidase Z levels | 2e-68 | rs13121547 | 1 | GCST90426728 | no MR -> candidate analysis |
| SOD3 protein levels | 2e-64 | rs3796735 | 1 | GCST90470706 | no MR -> candidate analysis |
| Standing height (UKB data field 50) | 1e-45 | rs3756173 | 1 | GCST90468178 | no MR -> candidate analysis |
| Height (baseline) | 1e-40 | rs4621412 | 2 | GCST90565843 | no MR -> candidate analysis |
| Cerebrospinal fluid protein CPZ levels | 6e-40 | rs11723641 | 1 | GCST90942032 | no MR -> candidate analysis |
| Body shape phenotype PC2 | 9e-32 | rs4621412 | 1 | GCST90832990 | no MR -> candidate analysis |
| What is your height? (cm, inv-normal transformed) | 1e-18 | rs2302580 | 1 | GCST90479637 | no MR -> candidate analysis |
| Physical function (baseline) | 2e-15 | rs13127468 | 1 | GCST90565837 | no MR -> candidate analysis |
| …and 14 more traits (see JSON) |
Top diseases by Open Targets association (of 237 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 |
|---|---|---|---|---|
| Abnormality of the skeletal system | 0.723 | — | common-variant locus | no MR -> candidate analysis |
| Short stature | 0.532 | — | established (curated) | no MR -> candidate analysis |
| neuroblastoma | 0.509 | — | common-variant locus | no MR -> candidate analysis |
| amputation | 0.185 | — | common-variant locus | no MR -> candidate analysis |
| drug allergy | 0.182 | — | common-variant locus | no MR -> candidate analysis |
| systemic lupus erythematosus | 0.178 | — | common-variant locus | no MR -> candidate analysis |
| liver disorder | 0.17 | — | common-variant locus | no MR -> candidate analysis |
| lymphatic system disorder | 0.152 | — | common-variant locus | no MR -> candidate analysis |
| vein disorder | 0.152 | — | common-variant locus | no MR -> candidate analysis |
| placental abruption | 0.135 | — | common-variant locus | no MR -> candidate analysis |
| osteoporosis | 0.11 | — | common-variant locus | no MR -> candidate analysis |
| poisoning | 0.11 | — | common-variant locus | no MR -> candidate analysis |
| response to xenobiotic stimulus | 0.11 | — | common-variant locus | no MR -> candidate analysis |
| kidney disorder | 0.108 | — | common-variant locus | no MR -> candidate analysis |
| gout | 0.1 | — | 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=1.3e-49, LOEUF=1.96 — LoF-tolerant |
| GWAS Catalog | 54 unique SNPs / 108 rows |
| ClinVar | 404 records; 6 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 237 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 ‘CPZ’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 404 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 26 traits by best p-value, aggregated from 46 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/Q66K79 — 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/ENSG00000109625/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CPZ — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CPZ — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CPZ%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CPZ — GWAS Catalog search API (live; release not exposed)