Protein Dossier — EPHB6 (Ephrin type-B receptor 6)
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 |
| Heel bone mineral density (BMD) T-score automated |
0.0501 |
0.0149 |
7.48e-04 |
Wald ratio |
1 |
cis |
NA |
| Lumbar spine bone mineral density |
0.11 |
0.0414 |
0.00779 |
Wald ratio |
1 |
cis |
NA |
| Sodium in urine |
-0.0282 |
0.0113 |
0.0124 |
Wald ratio |
1 |
cis |
NA |
| Neuroticism |
-0.0377 |
0.0167 |
0.0244 |
Wald ratio |
1 |
cis |
NA |
| Endometrioid ovarian cancer |
-0.298 |
0.138 |
0.0309 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M54 Dorsalgia |
-0.244 |
0.116 |
0.0345 |
Wald ratio |
1 |
cis |
NA |
| Thalamus volume |
64.6 |
30.7 |
0.0352 |
Wald ratio |
1 |
cis |
NA |
| Alzheimer’s disease |
0.159 |
0.0766 |
0.0384 |
Wald ratio |
1 |
cis |
NA |
| Body mass index (BMI) |
0.0237 |
0.0115 |
0.0389 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Injury or trauma resulting in loss of vision |
0.219 |
0.123 |
0.0748 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: osteoporosis |
-0.197 |
0.114 |
0.0839 |
Wald ratio |
1 |
cis |
NA |
| Coronary heart disease |
0.0797 |
0.0462 |
0.0847 |
Wald ratio |
1 |
cis |
NA |
| …and 65 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-5078_82_3 |
EphB6 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
23 association rows across 16 traits (19 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 |
| Circulating EPHB6 levels |
2e-463 |
rs7789303 |
2 |
GCST90859677 |
no MR -> candidate analysis |
| EPHB4/EPHB6 protein level ratio |
3e-316 |
rs6464534 |
1 |
GCST90314678 |
no MR -> candidate analysis |
| EPHB6/LAYN protein level ratio |
4e-312 |
rs6464534 |
1 |
GCST90314681 |
no MR -> candidate analysis |
| EFNA4/EPHB6 protein level ratio |
1e-286 |
rs6464534 |
1 |
GCST90314600 |
no MR -> candidate analysis |
| Ephrin type-B receptor 6 levels |
5e-138 |
rs7789303 |
4 |
GCST90247482 |
no MR -> candidate analysis |
| Serum levels of protein EPHB6 |
7e-38 |
rs7789303 |
2 |
GCST90088905 |
no MR -> candidate analysis |
| Ephrin type-B receptor 6 levels (EPHB6.5078.82.3) |
2e-32 |
rs7789303 |
1 |
GCST90241075 |
no MR -> candidate analysis |
| Blood protein levels |
6e-20 |
rs7789303 |
2 |
GCST006585 |
no MR -> candidate analysis |
| Trypsin-2 levels (PRSS2.5034.79.1) |
4e-15 |
rs62473589 |
1 |
GCST90243126 |
no MR -> candidate analysis |
| EPHB6 protein levels |
3e-12 |
rs766323 |
1 |
GCST90469133 |
no MR -> candidate analysis |
| Height |
1e-9 |
rs9986701 |
1 |
GCST90245848 |
no MR -> candidate analysis |
| Total PHF-tau (SNP x SNP interaction) |
1e-9 |
rs2040375 x rs4487417 |
1 |
GCST010340 |
no MR -> candidate analysis |
| …and 4 more traits (see JSON) |
|
|
|
|
|
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
No genetically-associated diseases retrieved from Open Targets.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
0 known modulators (Ephrin type-B receptor 6) |
| gnomAD constraint |
pLI=5.4e-05, LOEUF=0.602 — LoF-tolerant |
| GWAS Catalog |
96 unique SNPs / 191 rows |
| ClinVar |
228 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 175 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 ‘EPHB6’ and resolved to ‘Ephrin type-B receptor 6’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 228 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 16 of 16 traits by best p-value, aggregated from 23 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/O15197 — 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/ENSG00000106123/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5836/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/EPHB6 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/EPHB6 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=EPHB6%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/EPHB6 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:27:30 · 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