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 |
|---|---|---|---|---|---|---|---|
| Forced vital capacity (FVC) | -0.183 | 0.0104 | 2.89e-69 | Wald ratio | 1 | cis | NA |
| Height | -0.265 | 0.0155 | 7.11e-66 | Wald ratio | 1 | cis | NA |
| Forced expiratory volume in 1-second (FEV1) | -0.141 | 0.011 | 8.87e-38 | Wald ratio | 1 | cis | NA |
| Weight | -0.0942 | 0.0112 | 4.91e-17 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb | 0.474 | 0.0604 | 4.20e-15 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: polio or poliomyelitis | 0.903 | 0.207 | 1.32e-05 | Wald ratio | 1 | cis | NA |
| Hip osteoarthritis | -0.616 | 0.142 | 1.45e-05 | Wald ratio | 1 | cis | NA |
| Systolic blood pressure automated reading | 0.0517 | 0.013 | 7.20e-05 | Wald ratio | 1 | cis | NA |
| Knee and hip osteoarthritis | -0.417 | 0.112 | 2.04e-04 | Wald ratio | 1 | cis | NA |
| Potassium in urine | -0.0397 | 0.0129 | 0.00212 | Wald ratio | 1 | cis | NA |
| Body mass index (BMI) | 0.039 | 0.0127 | 0.00215 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K40 Inguinal hernia | -1.64 | 0.545 | 0.00255 | Wald ratio | 1 | cis | NA |
| …and 116 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
750 association rows across 188 traits (714 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 |
|---|---|---|---|---|---|
| Height | 4e-438 | rs59985551 | 61 | GCST90662911 | MR: beta=-0.265, p=7.11e-66 (cis) |
| What is your height? (cm, inv-normal transformed) | 1e-323 | rs3791679 | 4 | GCST90475368 | no MR -> candidate analysis |
| Height (baseline) | 2e-224 | rs59985551 | 17 | GCST90565843 | no MR -> candidate analysis |
| Circulating EFEMP1 levels | 3e-204 | rs3791679 | 2 | GCST90860478 | no MR -> candidate analysis |
| EFEMP1 protein levels | 4e-201 | rs3791679 | 4 | GCST90469078 | no MR -> candidate analysis |
| height (mean, inv-normal transformed) | 4e-165 | rs3791679 | 3 | GCST90479635 | no MR -> candidate analysis |
| Body shape phenotype PC2 | 5e-165 | rs59985551 | 2 | GCST90832990 | no MR -> candidate analysis |
| Height (maximum, inv-normal transformed) | 4e-162 | rs3791679 | 3 | GCST90479634 | no MR -> candidate analysis |
| height (minimum, inv-normal transformed) | 1e-153 | rs3791679 | 3 | GCST90479636 | no MR -> candidate analysis |
| Body size (confirmatory factor analysis Factor 21) | 3e-117 | rs59985551 | 1 | GCST90309355 | no MR -> candidate analysis |
| DLL1/EFEMP1 protein level ratio | 2e-115 | rs10199082 | 1 | GCST90314494 | no MR -> candidate analysis |
| CST3/EFEMP1 protein level ratio | 1e-114 | rs6755214 | 1 | GCST90314292 | no MR -> candidate analysis |
| …and 176 more traits (see JSON) |
Top diseases by Open Targets association (of 1783 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 |
|---|---|---|---|---|
| Inguinal hernia | 0.842 | — | established (curated) | MR: beta=-1.64, p=0.00255 (cis) |
| open-angle glaucoma | 0.737 | — | established (curated) | no MR -> candidate analysis |
| Doyne honeycomb retinal dystrophy | 0.676 | — | established (curated) | no MR -> candidate analysis |
| cutis laxa, autosomal recessive, type 1d | 0.787 | — | established (curated) | no MR -> candidate analysis |
| Familial drusen | 0.676 | — | established (curated) | no MR -> candidate analysis |
| myopia | 0.735 | — | established (curated) | no MR -> candidate analysis |
| Hernia of the abdominal wall | 0.717 | 0.152 | multi-layer: burden+GWAS (allelic-series candidate) | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.861 | — | common-variant locus | no MR -> candidate analysis |
| Hernia | 0.686 | 0.152 | multi-layer: burden+GWAS (allelic-series candidate) | MR: beta=-1.64, p=0.00255 (cis) |
| diverticular disease | 0.842 | — | common-variant locus | MR: beta=-0.385, p=0.00419 (cis) |
| ventral hernia | 0.842 | — | common-variant locus | MR: beta=-0.449, p=0.189 (cis) |
| diaphragmatic hernia | 0.842 | — | common-variant locus | MR: beta=0.165, p=0.0584 (cis) |
| carpal tunnel syndrome | 0.791 | — | common-variant locus | no MR -> candidate analysis |
| Umbilical hernia | 0.772 | — | common-variant locus | no MR -> candidate analysis |
| hypertensive disorder | 0.764 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 10 have no MR estimate in this resource. Across all retrieved diseases for this gene: 0 exploratory rare-variant signal(s), 2 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=1, LOEUF=0.406 — LoF-INTOLERANT |
| GWAS Catalog | 308 unique SNPs / 747 rows |
| ClinVar | 440 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 1783 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 ‘EFEMP1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 440 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 188 traits by best p-value, aggregated from 750 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/Q12805 — 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/ENSG00000115380/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/EFEMP1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/EFEMP1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=EFEMP1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/EFEMP1 — GWAS Catalog search API (live; release not exposed)