Protein Dossier — IL18R1 (Interleukin-18 receptor 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 |
| Crohn’s disease |
0.114 |
0.0156 |
2.25e-13 |
Wald ratio |
1 |
cis |
4.67e-07 |
| Inflammatory bowel disease |
0.0862 |
0.013 |
2.84e-11 |
Wald ratio |
1 |
cis |
1.55e-07 |
| Eczema |
0.13 |
0.0218 |
2.78e-09 |
Wald ratio |
1 |
cis |
0.931 |
| Platelet count |
-1.69 |
0.53 |
0.00146 |
Wald ratio |
1 |
cis |
NA |
| Glioma |
-0.175 |
0.0566 |
0.00197 |
Wald ratio |
1 |
cis |
NA |
| Urinary albumin-to-creatinine ratio |
-0.022 |
0.00782 |
0.00485 |
Wald ratio |
1 |
cis |
NA |
| Ulcerative colitis |
0.0418 |
0.0164 |
0.0107 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M72 Fibroblastic disorders |
0.0997 |
0.0393 |
0.0111 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R07 Pain in throat and chest |
0.0344 |
0.0137 |
0.0122 |
Wald ratio |
1 |
cis |
NA |
| Mean cell volume |
0.0804 |
0.0324 |
0.013 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: G47 Sleep disorders |
-0.115 |
0.0467 |
0.0138 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: vitiligo |
0.342 |
0.14 |
0.0148 |
Wald ratio |
1 |
cis |
NA |
| …and 89 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3446_7_2 |
IL-18 Ra |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
284 association rows across 121 traits (273 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 IL18R1 levels |
1e-4635 |
rs12712145 |
5 |
GCST90859873 |
no MR -> candidate analysis |
| Circulating IL1RL1 levels |
9e-1796 |
rs13029918 |
4 |
GCST90859979 |
no MR -> candidate analysis |
| ST2 protein levels |
7e-1635 |
rs13020553 |
5 |
GCST90012040 |
no MR -> candidate analysis |
| interleukin-18 receptor 1 levels |
6e-996 |
rs2270297 |
8 |
GCST90274804 |
no MR -> candidate analysis |
| Interleukin-18 receptor 1 (analyte X3446.7) levels |
5e-611 |
rs12712135 |
1 |
GCST90425769 |
no MR -> candidate analysis |
| Interleukin-18 receptor 1 (analyte X14079.14) levels |
1e-576 |
rs12712135 |
1 |
GCST90422451 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein IL18R1 levels |
5e-367 |
rs12996505 |
1 |
GCST90943509 |
no MR -> candidate analysis |
| Eosinophil count |
6e-305 |
rs9807989 |
17 |
GCST90002302 |
no MR -> candidate analysis |
| Serum levels of protein IL1RL1 |
1e-296 |
rs11676124 |
2 |
GCST90088634 |
no MR -> candidate analysis |
| Eosinophill percentage (UKB data field 30210) |
9e-285 |
rs9807989 |
1 |
GCST90468069 |
no MR -> candidate analysis |
| eosinophil (fraction, mean, inv-norm transformed) |
2e-269 |
rs13019081 |
3 |
GCST90475300 |
no MR -> candidate analysis |
| Interleukin-1 receptor-like 1 levels |
3e-257 |
rs13029918 |
10 |
GCST90248051 |
no MR -> candidate analysis |
| …and 109 more traits (see JSON) |
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 438 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 |
| Ascending aortic dissection |
0.827 |
— |
established (curated) |
no MR -> candidate analysis |
| Wheezing |
0.781 |
— |
common-variant locus |
no MR -> candidate analysis |
| Behcet disease |
0.761 |
— |
established (curated) |
no MR -> candidate analysis |
| asthma |
0.732 |
— |
common-variant locus |
no MR -> candidate analysis |
| Eczematoid dermatitis |
0.687 |
— |
common-variant locus |
no MR -> candidate analysis |
| atopic eczema |
0.695 |
— |
common-variant locus |
no MR -> candidate analysis |
| ulcerative colitis |
0.652 |
— |
common-variant locus |
MR: beta=0.0418, p=0.0107 (cis) |
| Crohn disease |
0.594 |
— |
common-variant locus |
no MR -> candidate analysis |
| dermatitis |
0.571 |
— |
common-variant locus |
no MR -> candidate analysis |
| inflammatory bowel disease |
0.559 |
— |
common-variant locus |
MR: beta=0.0862, p=2.84e-11 (cis) |
| chronic obstructive pulmonary disease |
0.541 |
— |
common-variant locus |
no MR -> candidate analysis |
| celiac disease |
0.56 |
— |
common-variant locus |
no MR -> candidate analysis |
| lower respiratory tract disorder |
0.557 |
— |
common-variant locus |
no MR -> candidate analysis |
| psoriasis |
0.522 |
— |
common-variant locus |
MR: beta=-0.039, p=0.211 (cis) |
| nasal cavity polyp |
0.539 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 12 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 |
1 known modulators (IL18 Receptor) |
| gnomAD constraint |
pLI=6.9e-12, LOEUF=1.07 — LoF-tolerant |
| GWAS Catalog |
215 unique SNPs / 545 rows |
| ClinVar |
83 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 438 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 ‘IL18R1’ and resolved to ‘IL18 Receptor’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 83 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 121 traits by best p-value, aggregated from 284 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/Q13478 — 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/ENSG00000115604/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4804253/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/IL18R1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/IL18R1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=IL18R1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/IL18R1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:12:59 · 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