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 |
|---|---|---|---|---|---|---|---|
| Underlying (primary) cause of death: ICD10: E85.4 Organ-limited amyloidosis | 1.65 | 0.378 | 1.22e-05 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Other bones | 0.104 | 0.03 | 5.35e-04 | Wald ratio | 1 | cis | NA |
| Diastolic blood pressure automated reading | -0.0228 | 0.00782 | 0.00353 | Wald ratio | 1 | cis | NA |
| LDL cholesterol | -0.0456 | 0.0164 | 0.0054 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K43 Ventral hernia | 0.228 | 0.0922 | 0.0134 | Wald ratio | 1 | cis | NA |
| Neo-agreeableness | -0.411 | 0.182 | 0.0243 | Wald ratio | 1 | cis | NA |
| HOMA-B | 0.0231 | 0.0105 | 0.0278 | Wald ratio | 1 | cis | NA |
| Childhood intelligence | 0.0874 | 0.0403 | 0.0303 | Wald ratio | 1 | cis | NA |
| Vascular or heart problems diagnosed by doctor: Angina | 0.0846 | 0.0394 | 0.0318 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: D25 Leiomyoma of uterus | -0.168 | 0.0804 | 0.0368 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal | -0.142 | 0.0749 | 0.0583 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: mania or bipolar disorder or manic depression | 0.229 | 0.121 | 0.0587 | Wald ratio | 1 | cis | NA |
| …and 77 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
26 association rows across 22 traits (20 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 |
|---|---|---|---|---|---|
| COCH protein levels | 5e-282 | rs8015095 | 4 | GCST90468810 | no MR -> candidate analysis |
| Cochlin levels | 2e-126 | rs28400019 | 2 | GCST90247106 | no MR -> candidate analysis |
| Serum levels of protein COCH | 5e-69 | rs7159420 | 1 | GCST90089749 | no MR -> candidate analysis |
| Cochlin levels (COCH.7227.75.3) | 1e-38 | rs34907608 | 1 | GCST90240729 | no MR -> candidate analysis |
| Blood protein levels | 2e-38 | rs35561078 | 1 | GCST006585 | no MR -> candidate analysis |
| Vertex-wise cortical surface area | 1e-20 | rs8022032 | 1 | GCST90095130 | no MR -> candidate analysis |
| IDP dMRI TBSS OD Superior fronto-occipital fasciculus R | 3e-18 | rs10148294 | 1 | GCST90004444 | no MR -> candidate analysis |
| Cortical thickness | 1e-17 | rs8022032 | 1 | GCST90091061 | no MR -> candidate analysis |
| Vertex-wise cortical thickness | 2e-17 | rs8022032 | 1 | GCST90095131 | no MR -> candidate analysis |
| Hearing loss | 2e-12 | rs121908932 | 1 | GCST90132907 | no MR -> candidate analysis |
| A0A2U3TZE7;COCH protein level (protein group normalized inte | 6e-11 | rs8015095 | 1 | GCST90570891 | no MR -> candidate analysis |
| Mean platelet volume | 2e-9 | rs12897108 | 1 | GCST004599 | no MR -> candidate analysis |
| …and 10 more traits (see JSON) |
Top diseases by Open Targets association (of 271 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 |
|---|---|---|---|---|
| autosomal dominant nonsyndromic hearing loss | 0.836 | — | established (curated) | no MR -> candidate analysis |
| hearing loss, autosomal recessive 110 | 0.794 | — | established (curated) | no MR -> candidate analysis |
| nonsyndromic genetic hearing loss | 0.683 | — | established (curated) | no MR -> candidate analysis |
| Rare genetic deafness | 0.748 | — | established (curated) | no MR -> candidate analysis |
| Hearing impairment | 0.581 | — | established (curated) | no MR -> candidate analysis |
| Sensorineural hearing impairment | 0.559 | — | established (curated) | no MR -> candidate analysis |
| Prelingual sensorineural hearing impairment | 0.547 | — | established (curated) | no MR -> candidate analysis |
| familial glucocorticoid deficiency | 0.362 | — | common-variant locus | no MR -> candidate analysis |
| hereditary disease | 0.316 | — | established (curated) | no MR -> candidate analysis |
| Usher syndrome | 0.195 | — | established (curated) | no MR -> candidate analysis |
| placental retention | 0.165 | — | common-variant locus | no MR -> candidate analysis |
Of the 11 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 | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=1.9e-10, LOEUF=0.95 — LoF-tolerant |
| GWAS Catalog | 48 unique SNPs / 96 rows |
| ClinVar | 389 records; 5 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 271 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 ‘COCH’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 389 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 22 traits by best p-value, aggregated from 26 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/O43405 — 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/ENSG00000100473/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/COCH — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/COCH — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=COCH%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/COCH — GWAS Catalog search API (live; release not exposed)