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 |
|---|---|---|---|---|---|---|---|
| Cancer code self-reported: malignant melanoma | 0.235 | 0.0856 | 0.00601 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K40 Inguinal hernia | 0.133 | 0.0508 | 0.00895 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: anxiety or panic attacks | -0.272 | 0.109 | 0.0121 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: uterine fibroids | 0.161 | 0.0654 | 0.0139 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: C50 Malignant neoplasm of breast | -0.168 | 0.0884 | 0.0565 | Wald ratio | 1 | cis | NA |
| Weight | 0.0151 | 0.00836 | 0.0711 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R10 Abdominal and pelvic pain | 0.0749 | 0.0425 | 0.0779 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K20 Oesophagitis | -0.207 | 0.12 | 0.0829 | Wald ratio | 1 | cis | NA |
| Systolic blood pressure automated reading | 0.0167 | 0.00966 | 0.0843 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: muscle or soft tissue injuries | -0.238 | 0.146 | 0.101 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Injury or trauma resulting in loss of vision | -0.265 | 0.166 | 0.11 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N20 Calculus of kidney and ureter | 0.152 | 0.0979 | 0.121 | Wald ratio | 1 | cis | NA |
| …and 63 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
25 association rows across 19 traits (21 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 |
|---|---|---|---|---|---|
| EMILIN-3 levels | 6e-79 | rs61739314 | 3 | GCST90247446 | no MR -> candidate analysis |
| Serum levels of protein EMILIN3 | 3e-69 | rs61739314 | 2 | GCST90090288 | no MR -> candidate analysis |
| Blood protein levels | 4e-43 | rs61739314 | 1 | GCST006585 | no MR -> candidate analysis |
| EMILIN-3 levels (EMILIN3.8773.172.3) | 4e-23 | rs61739314 | 2 | GCST90241036 | no MR -> candidate analysis |
| Depression | 7e-18 | rs143186028 | 1 | GCST007342 | MR: beta=0.225, p=0.14 (cis) |
| Smoking initiation | 4e-16 | rs6065347 | 2 | GCST90243985 | no MR -> candidate analysis |
| 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase ga | 9e-16 | rs113622480 | 1 | GCST90249028 | no MR -> candidate analysis |
| Height (baseline) | 1e-12 | rs79024651 | 1 | GCST90565843 | no MR -> candidate analysis |
| Platelet count | 3e-12 | rs4810316 | 2 | GCST90002357 | no MR -> candidate analysis |
| EMILIN-3 level in Chronic kidney disease with hypertension a | 3e-12 | rs2235595 | 1 | GCST90239017 | no MR -> candidate analysis |
| Blood pressure (pleiotropy model 1 DBP adjusted for estimate | 2e-10 | rs7351166 | 1 | GCST90239828 | no MR -> candidate analysis |
| Diabetes (confirmatory factor analysis Factor 28) | 2e-9 | rs60387034 | 1 | GCST90309362 | no MR -> candidate analysis |
| …and 7 more traits (see JSON) |
Top diseases by Open Targets association (of 102 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 |
|---|---|---|---|---|
| major depressive disorder | 0.659 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis, hand | 0.52 | — | common-variant locus | no MR -> candidate analysis |
| diabetes mellitus | 0.468 | — | common-variant locus | no MR -> candidate analysis |
| smoking initiation | 0.216 | — | common-variant locus | no MR -> candidate analysis |
| marfanoid habitus and intellectual disability | 0.195 | — | established (curated) | no MR -> candidate analysis |
| androgenetic alopecia | 0.144 | — | common-variant locus | no MR -> candidate analysis |
| placenta praevia | 0.128 | — | common-variant locus | no MR -> candidate analysis |
| narcolepsy | 0.127 | — | common-variant locus | no MR -> candidate analysis |
| multiple sclerosis | 0.127 | — | common-variant locus | no MR -> candidate analysis |
| radius fracture | 0.077 | — | common-variant locus | no MR -> candidate analysis |
| ulna fracture | 0.077 | — | common-variant locus | no MR -> candidate analysis |
| Hallux valgus | 0.072 | — | common-variant locus | no MR -> candidate analysis |
| basal cell carcinoma | 0.071 | — | common-variant locus | no MR -> candidate analysis |
Of the 13 rows above, 13 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=3.6e-12, LOEUF=1.16 — LoF-tolerant |
| GWAS Catalog | 98 unique SNPs / 178 rows |
| ClinVar | 163 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 102 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 ‘EMILIN3’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 163 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 19 of 19 traits by best p-value, aggregated from 25 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/Q9H8L6 — 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/ENSG00000183798/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/EMILIN3 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/EMILIN3 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=EMILIN3%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/EMILIN3 — GWAS Catalog search API (live; release not exposed)