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 |
|---|---|---|---|---|---|---|---|
| Height | -0.0235 | 0.00379 | 5.40e-10 | Wald ratio | 1 | cis | NA |
| Forced vital capacity (FVC) | -0.0107 | 0.00259 | 3.29e-05 | Wald ratio | 1 | cis | NA |
| Weight | -0.0104 | 0.00278 | 1.87e-04 | Wald ratio | 1 | cis | NA |
| Forced expiratory volume in 1-second (FEV1) | -0.00912 | 0.00273 | 8.23e-04 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb | 0.0683 | 0.0224 | 0.00227 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: depression | 0.0367 | 0.0125 | 0.00332 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: H25 Senile cataract | -0.118 | 0.0405 | 0.00347 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R55 Syncope and collapse | 0.0818 | 0.0308 | 0.00792 | Wald ratio | 1 | cis | NA |
| Small vessel disease | 0.122 | 0.0471 | 0.00955 | Wald ratio | 1 | cis | NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.0208 | 0.0085 | 0.0144 | Wald ratio | 1 | cis | NA |
| Underlying (primary) cause of death: ICD10: E85.4 Organ-limited amyloidosis | 0.829 | 0.35 | 0.018 | Wald ratio | 1 | cis | NA |
| HDL cholesterol | 0.0142 | 0.00627 | 0.0232 | Wald ratio | 1 | cis | NA |
| …and 105 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
222 association rows across 145 traits (215 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 |
|---|---|---|---|---|---|
| Amiloride-sensitive amine oxidase [copper-containing] levels | 5e-1179 | rs10452848 | 3 | GCST90246408 | no MR -> candidate analysis |
| Circulating AOC1 levels | 1e-464 | rs1049742 | 1 | GCST90860746 | no MR -> candidate analysis |
| Amiloride-sensitive amine oxidase [copper-containing] (analy | 2e-404 | rs62492368 | 1 | GCST90422692 | no MR -> candidate analysis |
| Height | 1e-300 | rs6977081 | 8 | GCST90245848 | MR: beta=-0.0235, p=5.40e-10 (cis) |
| Blood protein levels | 3e-239 | rs10452848 | 1 | GCST006585 | no MR -> candidate analysis |
| X-12688 levels | 2e-131 | rs59577667 | 1 | GCST90245554 | no MR -> candidate analysis |
| Appendicular lean mass | 1e-113 | rs6977416 | 3 | GCST90000025 | no MR -> candidate analysis |
| N-acetyl-isoputreanine levels | 7e-90 | rs62492368 | 4 | GCST90200195 | no MR -> candidate analysis |
| Urine 1-methylhistamine levels in chronic kidney disease | 2e-86 | rs62492368 | 1 | GCST90264234 | no MR -> candidate analysis |
| Urine X-23656 levels in chronic kidney disease | 1e-76 | rs6464114 | 1 | GCST90266622 | no MR -> candidate analysis |
| X-24020 levels | 2e-72 | rs62492368 | 4 | GCST90245737 | no MR -> candidate analysis |
| Serum levels of protein AOC1 | 1e-60 | rs139995291 | 3 | GCST90089296 | no MR -> candidate analysis |
| …and 133 more traits (see JSON) |
Top diseases by Open Targets association (of 751 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 | 0.76 | — | common-variant locus | no MR -> candidate analysis |
| type 2 diabetes mellitus | 0.581 | — | common-variant locus | no MR -> candidate analysis |
| hypertensive disorder | 0.568 | — | common-variant locus | no MR -> candidate analysis |
| diabetes mellitus | 0.479 | — | common-variant locus | no MR -> candidate analysis |
| atrial fibrillation | 0.468 | — | common-variant locus | no MR -> candidate analysis |
| carpal tunnel syndrome | 0.449 | — | common-variant locus | no MR -> candidate analysis |
| gout | 0.434 | — | common-variant locus | no MR -> candidate analysis |
| metabolic syndrome | 0.391 | — | common-variant locus | no MR -> candidate analysis |
| metabolic dysfunction-associated steatotic liver disease | 0.385 | — | common-variant locus | no MR -> candidate analysis |
| heart disorder | 0.319 | — | common-variant locus | no MR -> candidate analysis |
| breast carcinoma | 0.279 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis, knee | 0.23 | — | common-variant locus | MR: beta=0.0513, p=0.183 (cis) |
| total knee arthroplasty | 0.187 | — | common-variant locus | no MR -> candidate analysis |
| neuroendocrine neoplasm | 0.178 | — | common-variant locus | no MR -> candidate analysis |
| total joint arthroplasty | 0.171 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 14 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 (Diamine oxidase [copper-containing]) |
| gnomAD constraint | pLI=1.7e-20, LOEUF=1.26 — LoF-tolerant |
| GWAS Catalog | 114 unique SNPs / 244 rows |
| ClinVar | 204 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 751 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 ‘AOC1’ and resolved to ‘Diamine oxidase [copper-containing]’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 204 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 145 traits by best p-value, aggregated from 222 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/P19801 — 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/ENSG00000002726/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2118/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/AOC1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/AOC1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=AOC1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/AOC1 — GWAS Catalog search API (live; release not exposed)