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: high cholesterol | 0.262 | 0.0242 | 2.47e-27 | Wald ratio | 1 | trans | 1 |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) | 0.344 | 0.0586 | 4.46e-09 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: pulmonary embolism (with or without) dvt | 0.386 | 0.0884 | 1.24e-05 | Wald ratio | 1 | trans | NA |
| Forced expiratory volume in 1-second (FEV1) | 0.0375 | 0.0101 | 1.96e-04 | Wald ratio | 1 | trans | NA |
| Forced vital capacity (FVC) | 0.0343 | 0.00954 | 3.20e-04 | Wald ratio | 1 | trans | NA |
| Eye problems or disorders: Glaucoma | 0.27 | 0.0756 | 3.61e-04 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] | 0.261 | 0.075 | 4.97e-04 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema | 0.143 | 0.0449 | 0.00143 | Wald ratio | 1 | trans | NA |
| Schizophrenia | -0.178 | 0.0577 | 0.00209 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: gout | -0.511 | 0.168 | 0.00237 | Wald ratio | 1 | trans | NA |
| Systolic blood pressure automated reading | -0.0341 | 0.0119 | 0.00425 | Wald ratio | 1 | trans | NA |
| Alcohol intake frequency | -0.0481 | 0.0172 | 0.00512 | Wald ratio | 1 | trans | NA |
| …and 62 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
5 association rows across 4 traits (2 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 |
|---|---|---|---|---|---|
| Protein quantitative trait loci (liver) | 4e-10 | rs11105949 | 1 | GCST011427 | no MR -> candidate analysis |
| Corneal resistance factor (MTAG) | 7e-10 | rs10859098 | 1 | GCST90102517 | no MR -> candidate analysis |
| Long sleep duration (>=10 hours) | 2e-6 | rs79779552 | 1 | GCST90428610 | no MR -> candidate analysis |
| Glioblastoma | 6e-6 | rs186984001 | 2 | GCST90296471 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 441 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 |
|---|---|---|---|---|
| ovarian dysfunction | 0.415 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.172 | — | common-variant locus | no MR -> candidate analysis |
| hair color | 0.171 | — | common-variant locus | no MR -> candidate analysis |
| pernicious anemia | 0.125 | — | common-variant locus | no MR -> candidate analysis |
| Hodgkins lymphoma | 0.108 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.107 | — | common-variant locus | no MR -> candidate analysis |
| cholelithiasis | 0.102 | — | common-variant locus | MR: beta=-0.241, p=0.0207 (trans) |
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 | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=1.2e-09, LOEUF=1.28 — LoF-tolerant |
| GWAS Catalog | 33 unique SNPs / 66 rows |
| ClinVar | 80 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 441 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 ‘EPYC’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 80 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 4 of 4 traits by best p-value, aggregated from 5 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/Q99645 — 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/ENSG00000083782/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/EPYC — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/EPYC — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=EPYC%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/EPYC — GWAS Catalog search API (live; release not exposed)