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 |
|---|---|---|---|---|---|---|---|
| Body mass index (BMI) | 0.0328 | 0.012 | 0.00607 | Wald ratio | 1 | trans | NA |
| Alcohol intake frequency | 0.0458 | 0.0177 | 0.0096 | Wald ratio | 1 | trans | NA |
| Vascular or heart problems diagnosed by doctor: Angina | 0.147 | 0.0581 | 0.0116 | Wald ratio | 1 | trans | NA |
| Pulse rate | 0.0494 | 0.0211 | 0.0193 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: iron deficiency anaemia | 0.285 | 0.126 | 0.0235 | Wald ratio | 1 | trans | NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.0828 | 0.038 | 0.0296 | Wald ratio | 1 | trans | NA |
| Cardioembolic stroke | -0.671 | 0.311 | 0.0312 | Wald ratio | 1 | trans | NA |
| Eye problems or disorders: Cataract | 0.121 | 0.0581 | 0.0376 | Wald ratio | 1 | trans | NA |
| Diastolic blood pressure automated reading | -0.025 | 0.0123 | 0.0417 | Wald ratio | 1 | trans | NA |
| Creatinine (enzymatic) in urine | 0.0229 | 0.0115 | 0.0458 | Wald ratio | 1 | trans | NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.0909 | 0.0456 | 0.046 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: K57 Diverticular disease of intestine | -0.21 | 0.105 | 0.0461 | Wald ratio | 1 | trans | NA |
| …and 78 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
209 association rows across 118 traits (164 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 |
|---|---|---|---|---|---|
| Low-density lipoprotein levels | 2e-62 | rs9679111 | 2 | GCST90662892 | no MR -> candidate analysis |
| Total cholesterol levels | 5e-58 | rs360804 | 17 | GCST90662895 | no MR -> candidate analysis |
| Low density lipoprotein cholesterol levels | 5e-54 | rs360804 | 10 | GCST90239655 | no MR -> candidate analysis |
| Non-HDL cholesterol levels | 2e-43 | rs189671 | 2 | GCST90239667 | no MR -> candidate analysis |
| Gamma glutamyl transferase levels | 3e-27 | rs12989754 | 3 | GCST90662899 | no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) | 3e-26 | rs13007041 | 1 | GCST90838669 | no MR -> candidate analysis |
| Drinks per week | 5e-24 | rs6739804 | 2 | GCST90243989 | no MR -> candidate analysis |
| LDL cholesterol levels | 8e-23 | rs4671447 | 9 | GCST90244006 | no MR -> candidate analysis |
| Prostate cancer | 5e-22 | rs721048 | 8 | GCST006085 | no MR -> candidate analysis |
| LDL cholesterol | 1e-19 | rs2710644 | 4 | GCST90018961 | no MR -> candidate analysis |
| LDL cholesterol levels x alcohol consumption (regular vs non | 6e-19 | rs360804 | 2 | GCST008078 | no MR -> candidate analysis |
| LDL cholesterol levels x alcohol consumption (drinkers vs no | 1e-18 | rs360804 | 2 | GCST008079 | no MR -> candidate analysis |
| …and 106 more traits (see JSON) |
Top diseases by Open Targets association (of 127 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 | 0.699 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.681 | — | common-variant locus | no MR -> candidate analysis |
| Familial prostate cancer | 0.195 | — | established (curated) | no MR -> candidate analysis |
| essential tremor | 0.613 | — | common-variant locus | no MR -> candidate analysis |
| metabolic disease | 0.601 | — | common-variant locus | no MR -> candidate analysis |
| coronary artery disorder | 0.578 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.515 | — | common-variant locus | no MR -> candidate analysis |
| hyperlipidemia | 0.502 | — | common-variant locus | no MR -> candidate analysis |
| prostate cancer | 0.481 | — | common-variant locus | no MR -> candidate analysis |
| lower urinary tract calculus | 0.482 | — | common-variant locus | no MR -> candidate analysis |
| myocardial infarction | 0.47 | — | common-variant locus | MR: beta=0.0661, p=0.335 (trans) |
| metabolic syndrome | 0.441 | — | common-variant locus | no MR -> candidate analysis |
| physical activity | 0.454 | — | common-variant locus | no MR -> candidate analysis |
| obesity disorder | 0.452 | — | common-variant locus | no MR -> candidate analysis |
| response to statin | 0.452 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 14 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=0.98, LOEUF=0.478 — LoF-INTOLERANT |
| GWAS Catalog | 108 unique SNPs / 252 rows |
| ClinVar | 230 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 127 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 ‘EHBP1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 230 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 118 traits by best p-value, aggregated from 209 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/Q8NDI1 — 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/ENSG00000115504/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/EHBP1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/EHBP1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=EHBP1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/EHBP1 — GWAS Catalog search API (live; release not exposed)