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: asthma | 0.0565 | 0.0108 | 1.89e-07 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: hayfever or allergic rhinitis | 0.0594 | 0.0159 | 1.86e-04 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: R14 Flatulence and related conditions | 0.355 | 0.121 | 0.00343 | Wald ratio | 1 | trans | NA |
| Clear cell ovarian cancer | 0.222 | 0.0794 | 0.00518 | Wald ratio | 1 | trans | NA |
| Eye problems or disorders: Cataract | -0.0665 | 0.0239 | 0.00543 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux | 0.0504 | 0.0188 | 0.00723 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: K57 Diverticular disease of intestine | 0.0699 | 0.0269 | 0.00933 | Wald ratio | 1 | trans | NA |
| Eczema | 0.141 | 0.0676 | 0.0375 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm) | 0.41 | 0.2 | 0.0398 | Wald ratio | 1 | trans | NA |
| Cancer code self-reported: prostate cancer | 0.0902 | 0.0439 | 0.04 | Wald ratio | 1 | trans | NA |
| Ovarian cancer | 0.0536 | 0.0262 | 0.0412 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: depression | 0.0332 | 0.0163 | 0.0424 | Wald ratio | 1 | trans | NA |
| …and 56 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
74 association rows across 69 traits (22 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 |
|---|---|---|---|---|---|
| Mucin-16 levels | 2e-36 | rs61742668 | 1 | GCST90248540 | no MR -> candidate analysis |
| Breakthrough COVID-19 susceptibility after at least one dose | 5e-34 | rs11673136 | 1 | GCST90448695 | no MR -> candidate analysis |
| Circulating MUC16 levels (id: OID00741_OID21378) | 5e-27 | rs10421318 | 2 | GCST90860082 | no MR -> candidate analysis |
| Circulating MUC16 levels (id: OID05549_OID21378) | 2e-23 | rs10421318 | 2 | GCST90860761 | no MR -> candidate analysis |
| MUC16 protein levels | 2e-23 | rs10421318 | 2 | GCST90469964 | no MR -> candidate analysis |
| Asthma | 6e-21 | rs10416530 | 3 | GCST90399687 | MR: beta=0.0565, p=1.89e-07 (trans) |
| Serum cancer antigen 125 (CA 125) levels | 2e-17 | rs73005873 | 1 | GCST009647 | no MR -> candidate analysis |
| Ovarian cancer-related tumor marker CA 125 levels | 1e-16 | rs12976386 | 1 | GCST90012078 | no MR -> candidate analysis |
| Complex ventricular septal defect | 3e-16 | rs200791776 | 1 | GCST90246230 | no MR -> candidate analysis |
| Gut microbial network clusters (Salmon (at 1 year) x Househo | 7e-11 | rs12974378 | 1 | GCST90569451 | no MR -> candidate analysis |
| Gut microbial network clusters (Pink (at 1 year) x Winter Bi | 9e-11 | rs78342591 | 1 | GCST90569460 | no MR -> candidate analysis |
| Gut microbial network clusters (Salmon (at 1 year) x Househo | 9e-10 | rs12974378 | 1 | GCST90569455 | no MR -> candidate analysis |
| …and 57 more traits (see JSON) |
Top diseases by Open Targets association (of 898 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 |
|---|---|---|---|---|
| alcohol drinking | 0.696 | — | common-variant locus | no MR -> candidate analysis |
| asthma | 0.603 | — | common-variant locus | MR: beta=0.0565, p=1.89e-07 (trans) |
| ovarian dysfunction | 0.485 | — | common-variant locus | no MR -> candidate analysis |
| ventricular septal defect | 0.481 | — | common-variant locus | no MR -> candidate analysis |
| COVID-19 | 0.403 | — | common-variant locus | no MR -> candidate analysis |
| response to COVID-19 vaccine | 0.403 | — | common-variant locus | no MR -> candidate analysis |
| childhood onset asthma | 0.37 | — | common-variant locus | no MR -> candidate analysis |
Of the 7 rows above, 6 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 | 4 known modulators (Mucin-16) |
| gnomAD constraint | pLI=2.2e-155, LOEUF=0.81 — LoF-tolerant |
| GWAS Catalog | 43 unique SNPs / 85 rows |
| ClinVar | 719 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | 1 clinical annotations across 1 drugs |
phenome — Top 30 of 898 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 ‘MUC16’ and resolved to ‘Mucin-16’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 719 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 69 traits by best p-value, aggregated from 74 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/Q8WXI7 — 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/ENSG00000181143/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3580482/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/MUC16 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/MUC16 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=MUC16%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=MUC16 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/MUC16 — GWAS Catalog search API (live; release not exposed)