Protein Dossier — IL12RB1 (Interleukin-12 receptor subunit beta-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 |
| Non-cancer illness code self-reported: gout |
-0.124 |
0.0324 |
1.35e-04 |
Wald ratio |
1 |
cis |
NA |
| Body mass index (BMI) |
-0.013 |
0.00342 |
1.36e-04 |
Wald ratio |
1 |
cis |
NA |
| Weight |
-0.0115 |
0.00302 |
1.40e-04 |
Wald ratio |
1 |
cis |
NA |
| Ulcerative colitis |
-0.0628 |
0.0178 |
4.19e-04 |
Wald ratio |
1 |
cis |
NA |
| Internalizing problems |
0.085 |
0.0307 |
0.00558 |
Wald ratio |
1 |
cis |
NA |
| Diastolic blood pressure automated reading |
-0.00898 |
0.0035 |
0.0103 |
Wald ratio |
1 |
cis |
NA |
| Neo-conscientiousness |
-0.265 |
0.105 |
0.0117 |
Wald ratio |
1 |
cis |
NA |
| Sodium in urine |
-0.00828 |
0.00336 |
0.0138 |
Wald ratio |
1 |
cis |
NA |
| Mean cell volume |
0.0917 |
0.0386 |
0.0175 |
Wald ratio |
1 |
cis |
NA |
| Multiple sclerosis |
0.0556 |
0.0236 |
0.0184 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm) |
0.39 |
0.167 |
0.0197 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) |
-0.0595 |
0.0257 |
0.0206 |
Wald ratio |
1 |
cis |
NA |
| …and 91 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2632_5_2 |
IL-12 Rb1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
39 association rows across 30 traits (36 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 IL12RB1 levels (id: OID01019_OID20486) |
2e-812 |
rs447009 |
2 |
GCST90860245 |
no MR -> candidate analysis |
| Circulating IL12RB1 levels (id: OID00835_OID20486) |
4e-801 |
rs447009 |
2 |
GCST90860161 |
no MR -> candidate analysis |
| Interleukin-12 receptor subunit beta-1 levels |
2e-75 |
rs375947 |
4 |
GCST90137663 |
no MR -> candidate analysis |
| Mouth ulcers |
5e-28 |
rs2305742 |
1 |
GCST007839 |
no MR -> candidate analysis |
| Arm fat percentage right (UKB data field 23119) |
6e-21 |
rs55714539 |
1 |
GCST90468158 |
no MR -> candidate analysis |
| Arm fat percentage left (UKB data field 23123) |
1e-20 |
rs55714539 |
1 |
GCST90468157 |
no MR -> candidate analysis |
| Body shape phenotype PC1 |
2e-17 |
rs55714539 |
1 |
GCST90832989 |
no MR -> candidate analysis |
| IL12RB1 protein levels |
6e-15 |
rs557478826 |
2 |
GCST90469550 |
no MR -> candidate analysis |
| IFI30 protein levels |
3e-14 |
rs374326 |
1 |
GCST90469509 |
no MR -> candidate analysis |
| MEP1B protein levels |
7e-14 |
rs55714539 |
1 |
GCST90469888 |
no MR -> candidate analysis |
| Aspartate aminotransferase to alanine aminotransferase ratio |
3e-13 |
rs7250425 |
1 |
GCST90019498 |
no MR -> candidate analysis |
| Sex hormone-binding globulin levels |
8e-13 |
rs7250425 |
1 |
GCST90019518 |
no MR -> candidate analysis |
| …and 18 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 475 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 |
| immunodeficiency disease |
0.669 |
— |
established (curated) |
no MR -> candidate analysis |
| Oral ulcer |
0.674 |
— |
common-variant locus |
no MR -> candidate analysis |
| systemic sclerosis |
0.641 |
— |
common-variant locus |
no MR -> candidate analysis |
| hereditary disease |
0.318 |
— |
established (curated) |
no MR -> candidate analysis |
| immune system disorder |
0.296 |
— |
common-variant locus |
no MR -> candidate analysis |
| nervous system cancer |
0.296 |
— |
common-variant locus |
no MR -> candidate analysis |
| brain cancer |
0.296 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 7 rows above, 7 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 (Interleukin-12 receptor subunit beta-1) |
| gnomAD constraint |
pLI=1.2e-14, LOEUF=0.835 — LoF-tolerant |
| GWAS Catalog |
108 unique SNPs / 254 rows |
| ClinVar |
687 records; 7 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 475 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 ‘IL12RB1’ and resolved to ‘Interleukin-12 receptor subunit beta-1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 687 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 30 traits by best p-value, aggregated from 39 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/P42701 — 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/ENSG00000096996/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4523226/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/IL12RB1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/IL12RB1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=IL12RB1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/IL12RB1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:10:47 · 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