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 |
|---|---|---|---|---|---|---|---|
| LDL cholesterol | 0.0987 | 0.0237 | 3.15e-05 | Wald ratio | 1 | trans | NA |
| Total cholesterol | 0.0904 | 0.0231 | 8.98e-05 | Wald ratio | 1 | trans | NA |
| Triglycerides | 0.075 | 0.0212 | 3.92e-04 | Wald ratio | 1 | trans | NA |
| Ischemic stroke | -0.339 | 0.106 | 0.00135 | Wald ratio | 1 | trans | NA |
| Anorexia nervosa | -0.56 | 0.175 | 0.00137 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: hyperthyroidism or thyrotoxicosis | -0.00297 | 0.00108 | 0.00587 | Inverse variance weighted | 2 | trans | NA |
| Non-cancer illness code self-reported: hyperthyroidism or thyrotoxicosis | -0.00297 | 0.00108 | 0.00587 | Inverse variance weighted | 2 | trans | NA |
| Sleep duration | -0.0261 | 0.00958 | 0.00651 | Inverse variance weighted | 2 | trans | NA |
| Sleep duration | -0.0261 | 0.00958 | 0.00651 | Inverse variance weighted | 2 | trans | NA |
| Non-cancer illness code self-reported: emphysema or chronic bronchitis | 0.00377 | 0.00144 | 0.00884 | Inverse variance weighted | 2 | trans | NA |
| Non-cancer illness code self-reported: emphysema or chronic bronchitis | 0.00377 | 0.00144 | 0.00884 | Inverse variance weighted | 2 | trans | NA |
| Serum cystatin C (eGFRcys) | -0.0301 | 0.0115 | 0.00902 | Wald ratio | 1 | trans | NA |
| …and 158 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
355 association rows across 340 traits (349 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 |
|---|---|---|---|---|---|
| Butyrylcholinesterase levels | 6e-262 | rs1803274 | 1 | GCST001207 | no MR -> candidate analysis |
| Cholinesterase levels | 1e-251 | rs2668196 | 1 | GCST90247015 | no MR -> candidate analysis |
| BCHE protein levels | 2e-170 | rs115790699 | 5 | GCST90468429 | no MR -> candidate analysis |
| Cardiovascular disease risk factors | 6e-92 | rs1803274 | 1 | GCST001247 | no MR -> candidate analysis |
| Platelet-activating factor acetylhydrolase levels | 9e-76 | rs1799807 | 1 | GCST90248843 | no MR -> candidate analysis |
| Integral membrane protein 2B levels | 3e-72 | rs78119247 | 2 | GCST90248138 | no MR -> candidate analysis |
| Peflin levels | 1e-69 | rs1799807 | 2 | GCST90248940 | no MR -> candidate analysis |
| Carnitine O-palmitoyltransferase 1, muscle isoform levels | 4e-67 | rs2668196 | 1 | GCST90247142 | no MR -> candidate analysis |
| Short-chain specific acyl-CoA dehydrogenase, mitochondrial l | 1e-53 | rs71674639 | 2 | GCST90249434 | no MR -> candidate analysis |
| Serum levels of protein PMEPA1 | 9e-53 | rs2668206 | 1 | GCST90089581 | no MR -> candidate analysis |
| Galactosylceramide sulfotransferase levels | 6e-52 | rs71674639 | 1 | GCST90247681 | no MR -> candidate analysis |
| Interleukin-36 receptor antagonist protein levels | 6e-52 | rs71674639 | 1 | GCST90248072 | no MR -> candidate analysis |
| …and 328 more traits (see JSON) |
Top diseases by Open Targets association (of 940 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 |
|---|---|---|---|---|
| butyrylcholinesterase deficiency | 0.945 | — | established (curated) | no MR -> candidate analysis |
| mathematical ability | 0.561 | — | common-variant locus | no MR -> candidate analysis |
| adverse effect | 0.495 | — | common-variant locus | no MR -> candidate analysis |
| response to stimulus | 0.495 | — | common-variant locus | no MR -> candidate analysis |
| pneumococcal pneumonia | 0.492 | — | common-variant locus | no MR -> candidate analysis |
| auditory system disorder | 0.448 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of the genital system | 0.419 | — | common-variant locus | no MR -> candidate analysis |
| cervical carcinoma | 0.396 | — | common-variant locus | no MR -> candidate analysis |
| male infertility | 0.346 | — | common-variant locus | no MR -> candidate analysis |
| hypotensive disorder | 0.346 | — | common-variant locus | no MR -> candidate analysis |
| hereditary disease | 0.317 | — | established (curated) | no MR -> candidate analysis |
| Abnormality of the gastrointestinal tract | 0.272 | — | common-variant locus | no MR -> candidate analysis |
| placental abruption | 0.261 | — | common-variant locus | no MR -> candidate analysis |
| placenta praevia | 0.261 | — | common-variant locus | no MR -> candidate analysis |
| colon carcinoma | 0.261 | — | 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 | 1 known modulators (Cholinesterase) |
| gnomAD constraint | pLI=7.6e-16, LOEUF=1.19 — LoF-tolerant |
| GWAS Catalog | 110 unique SNPs / 197 rows |
| ClinVar | 258 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | 14 clinical annotations across 4 drugs |
phenome — Top 30 of 940 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 ‘BCHE’ and resolved to ‘Cholinesterase’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 258 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 340 traits by best p-value, aggregated from 355 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/P06276 — 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/ENSG00000114200/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL1914/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/BCHE — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/BCHE — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=BCHE%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=BCHE — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/BCHE — GWAS Catalog search API (live; release not exposed)