Protein Dossier — PEBP1 (Phosphatidylethanolamine-binding protein 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 |
| Cancer code self-reported: basal cell carcinoma |
-0.204 |
0.0801 |
0.0111 |
Wald ratio |
1 |
cis |
NA |
| Hearing difficulty or problems: Yes |
0.0259 |
0.0105 |
0.0133 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: migraine |
-0.0941 |
0.0395 |
0.0173 |
Wald ratio |
1 |
cis |
NA |
| Sodium in urine |
0.0139 |
0.00612 |
0.0228 |
Wald ratio |
1 |
cis |
NA |
| Nucleus accumbens volume |
-6.64 |
2.97 |
0.0253 |
Wald ratio |
1 |
cis |
NA |
| Intracranial volume |
9.92e+03 |
4.48e+03 |
0.027 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: high cholesterol |
-0.038 |
0.0175 |
0.0296 |
Wald ratio |
1 |
cis |
NA |
| Pallidum volume |
-10.5 |
5.05 |
0.0386 |
Wald ratio |
1 |
cis |
NA |
| Cancer code self-reported: malignant melanoma |
0.127 |
0.0624 |
0.0412 |
Wald ratio |
1 |
cis |
NA |
| Schizophrenia |
0.0409 |
0.0201 |
0.0423 |
Wald ratio |
1 |
cis |
NA |
| Potassium in urine |
0.0127 |
0.00632 |
0.0442 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: depression |
-0.05 |
0.027 |
0.0636 |
Wald ratio |
1 |
cis |
NA |
| …and 62 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4276_10_2 |
prostatic binding protein |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
8 association rows across 5 traits (8 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 |
| Phosphatidylethanolamine-binding protein 1 levels |
2e-117 |
rs76597567 |
2 |
GCST90248864 |
no MR -> candidate analysis |
| Blood protein levels |
4e-111 |
rs76597567 |
1 |
GCST006585 |
no MR -> candidate analysis |
| PEBP1 protein levels |
6e-49 |
rs76597567 |
2 |
GCST90470205 |
no MR -> candidate analysis |
| Circulating PEBP1 levels |
1e-45 |
rs76597567 |
2 |
GCST90860664 |
no MR -> candidate analysis |
| Positive affect |
2e-8 |
rs7974375 |
1 |
GCST007338 |
no MR -> candidate analysis |
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 425 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 |
| prostate carcinoma |
0.031 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 1 rows above, 1 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 (Phosphatidylethanolamine-binding protein 1) |
| gnomAD constraint |
pLI=3.4e-05, LOEUF=1.12 — LoF-tolerant |
| GWAS Catalog |
58 unique SNPs / 116 rows |
| ClinVar |
34 records; 11 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 425 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 ‘PEBP1’ and resolved to ‘Phosphatidylethanolamine-binding protein 1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 34 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 5 of 5 traits by best p-value, aggregated from 8 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/P30086 — 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/ENSG00000089220/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4105856/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/PEBP1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PEBP1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PEBP1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PEBP1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T04:17:27 · 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