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 |
|---|---|---|---|---|---|---|---|
| Diagnoses - main ICD10: R04 Haemorrhage from respiratory passages | 0.268 | 0.102 | 0.00843 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: enlarged prostate | 0.169 | 0.0687 | 0.0139 | Wald ratio | 1 | trans | NA |
| Eye problems or disorders: Diabetes related eye disease | 0.23 | 0.0976 | 0.0184 | Wald ratio | 1 | trans | NA |
| Red blood cell count | 0.0228 | 0.0104 | 0.0289 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: migraine | -0.135 | 0.0629 | 0.0318 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema | -0.099 | 0.0466 | 0.0335 | Wald ratio | 1 | trans | NA |
| High grade serous ovarian cancer | -0.138 | 0.0657 | 0.0351 | Wald ratio | 1 | trans | NA |
| Squamous cell lung cancer | 0.216 | 0.105 | 0.0389 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: retinal detachment | 0.262 | 0.129 | 0.0428 | Wald ratio | 1 | trans | NA |
| Neo-neuroticism | 0.758 | 0.384 | 0.0484 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: osteoporosis | 0.131 | 0.067 | 0.0499 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: psoriasis | 0.137 | 0.0782 | 0.0793 | Wald ratio | 1 | trans | NA |
| …and 82 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
28 association rows across 27 traits (14 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 |
|---|---|---|---|---|---|
| Facial appearance | 1e-34 | rs12633616 | 1 | GCST90128425 | no MR -> candidate analysis |
| Facial morphology (segment 5) | 3e-26 | rs58022575 | 1 | GCST90007185 | no MR -> candidate analysis |
| Nose size | 2e-15 | rs13097965 | 1 | GCST003999 | no MR -> candidate analysis |
| Sib-shared facial trait 117; Facial segment 2; 3D morphology | 3e-13 | rs142433965 | 1 | GCST90015630 | no MR -> candidate analysis |
| Height | 7e-13 | rs4234607 | 1 | GCST90245848 | MR: beta=0.0216, p=0.0801 (trans) |
| Non-proliferative glomerulonephritis (PheCode 580.12) | 8e-13 | rs181546322 | 1 | GCST90480365 | no MR -> candidate analysis |
| Pierre Robin Sequence endophenotypic score | 2e-11 | rs4072388 | 1 | GCST90245763 | no MR -> candidate analysis |
| Facial morphology (segment 6) | 5e-11 | rs56081252 | 1 | GCST90007249 | no MR -> candidate analysis |
| Facial morphology traits (63 three-dimensional facial segmen | 8e-10 | rs58022575 | 1 | GCST007989 | no MR -> candidate analysis |
| Heel bone mineral density | 3e-8 | rs9865980 | 1 | GCST007066 | MR: beta=-0.00928, p=0.448 (trans) |
| Lung function (FVC) | 4e-8 | rs4074283 | 1 | GCST007081 | no MR -> candidate analysis |
| Body mass index | 4e-8 | rs7373175 | 1 | GCST90255622 | MR: beta=0.0127, p=0.178 (trans) |
| …and 15 more traits (see JSON) |
Top diseases by Open Targets association (of 217 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 | 0.583 | — | common-variant locus | no MR -> candidate analysis |
| corneal neovascularization | 0.389 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of limbs | 0.293 | — | common-variant locus | no MR -> candidate analysis |
| liver disorder | 0.293 | — | common-variant locus | no MR -> candidate analysis |
| nerve plexus disorder | 0.262 | — | common-variant locus | no MR -> candidate analysis |
| hypertensive disorder | 0.251 | — | common-variant locus | no MR -> candidate analysis |
| adolescent idiopathic scoliosis | 0.251 | — | common-variant locus | no MR -> candidate analysis |
| age-related macular degeneration | 0.2 | — | common-variant locus | no MR -> candidate analysis |
| Hematemesis | 0.2 | — | common-variant locus | no MR -> candidate analysis |
Of the 9 rows above, 9 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 | 0 known modulators (Ephrin type-B receptor 3) |
| gnomAD constraint | pLI=1, LOEUF=0.44 — LoF-INTOLERANT |
| GWAS Catalog | 45 unique SNPs / 90 rows |
| ClinVar | 171 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 217 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 ‘EPHB3’ and resolved to ‘Ephrin type-B receptor 3’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 171 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 27 traits by best p-value, aggregated from 28 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/P54753 — 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/ENSG00000182580/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4901/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/EPHB3 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/EPHB3 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=EPHB3%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/EPHB3 — GWAS Catalog search API (live; release not exposed)