Protein Dossier — EPHA1 (Ephrin type-A receptor 1)
MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
1. Published MR estimates (retrieved, not computed)
| Outcome |
beta |
se |
p |
method |
nSNP |
cis/trans |
coloc |
| Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm) |
0.691 |
0.193 |
3.39e-04 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: B37 Candidiasis |
0.503 |
0.156 |
0.00127 |
Wald ratio |
1 |
cis |
NA |
| Eczema |
-0.105 |
0.0374 |
0.00482 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] |
0.104 |
0.0395 |
0.0085 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hyperthyroidism or thyrotoxicosis |
0.134 |
0.0536 |
0.0124 |
Wald ratio |
1 |
cis |
NA |
| Bipolar disorder |
-0.123 |
0.0506 |
0.015 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: osteoporosis |
0.0926 |
0.0385 |
0.0162 |
Wald ratio |
1 |
cis |
NA |
| Sleep duration |
0.00959 |
0.0041 |
0.0195 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: psoriasis |
0.101 |
0.0449 |
0.025 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Diabetes related eye disease |
-0.17 |
0.0797 |
0.0329 |
Wald ratio |
1 |
cis |
NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
-0.0298 |
0.014 |
0.0332 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: gout |
0.0841 |
0.0406 |
0.0383 |
Wald ratio |
1 |
cis |
NA |
| …and 95 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3431_54_2 |
EphA1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
102 association rows across 63 traits (84 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 |
| Ephrin type-A receptor 1 levels |
4e-778 |
rs4725617 |
8 |
GCST90247471 |
no MR -> candidate analysis |
| BTN2A1/EPHA1 protein level ratio |
1e-275 |
rs11767557 |
1 |
GCST90313542 |
no MR -> candidate analysis |
| EPHA1/LTBR protein level ratio |
5e-248 |
rs11767557 |
1 |
GCST90314676 |
no MR -> candidate analysis |
| EPHA1 protein levels |
3e-229 |
rs75045569 |
3 |
GCST90469129 |
no MR -> candidate analysis |
| Blood protein levels |
2e-223 |
rs4725617 |
1 |
GCST006585 |
no MR -> candidate analysis |
| Ephrin type-A receptor 1 levels (EPHA1.3431.54.2) |
9e-83 |
rs4421280 |
1 |
GCST90241065 |
no MR -> candidate analysis |
| Ephrin type-A receptor 1 level in Chronic kidney disease wit |
1e-61 |
rs4725617 |
1 |
GCST90237377 |
no MR -> candidate analysis |
| Serum levels of protein EPHA1 |
2e-60 |
rs11767557 |
1 |
GCST90088381 |
no MR -> candidate analysis |
| Gamma glutamyltransferase levels (UKB data field 30730) |
4e-28 |
rs34372369 |
2 |
GCST90468070 |
no MR -> candidate analysis |
| Liver enzyme levels (gamma-glutamyl transferase) |
4e-27 |
rs34372369 |
1 |
GCST90013407 |
no MR -> candidate analysis |
| Gamma glutamyl transferase levels |
6e-27 |
rs34372369 |
2 |
GCST90428730 |
no MR -> candidate analysis |
| Height |
4e-26 |
rs34372369 |
1 |
GCST90245848 |
MR: beta=0.0083, p=0.16 (cis) |
| …and 51 more traits (see JSON) |
|
|
|
|
|
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 409 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 |
| Alzheimer disease |
0.824 |
— |
common-variant locus |
no MR -> candidate analysis |
| pathological myopia |
0.394 |
— |
common-variant locus |
no MR -> candidate analysis |
| late-onset Alzheimers disease |
0.379 |
— |
common-variant locus |
no MR -> candidate analysis |
| response to xenobiotic stimulus |
0.25 |
— |
common-variant locus |
no MR -> candidate analysis |
| bladder exstrophy |
0.195 |
— |
established (curated) |
no MR -> candidate analysis |
Of the 5 rows above, 5 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.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
0 known modulators (Ephrin type-A receptor 1) |
| gnomAD constraint |
pLI=3e-26, LOEUF=0.994 — LoF-tolerant |
| GWAS Catalog |
54 unique SNPs / 108 rows |
| ClinVar |
267 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 409 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 ‘EPHA1’ and resolved to ‘Ephrin type-A receptor 1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 267 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 63 traits by best p-value, aggregated from 102 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/P21709 — 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/ENSG00000146904/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5810/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/EPHA1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/EPHA1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=EPHA1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/EPHA1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:26:40 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: none