Protein Dossier — IL6R (Interleukin-6 receptor subunit alpha)
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 |
| Rheumatoid arthritis |
-0.0748 |
0.0124 |
1.49e-09 |
Wald ratio |
1 |
cis |
NA |
| Coronary heart disease |
-0.0442 |
0.00853 |
2.21e-07 |
Wald ratio |
1 |
cis |
NA |
| Eczema |
0.0674 |
0.0153 |
1.08e-05 |
Wald ratio |
1 |
cis |
NA |
| Crohn’s disease |
-0.0473 |
0.0114 |
3.18e-05 |
Wald ratio |
1 |
cis |
NA |
| Iron |
0.0357 |
0.00897 |
6.89e-05 |
Wald ratio |
1 |
cis |
NA |
| Myocardial infarction |
-0.0377 |
0.00955 |
8.01e-05 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: asthma |
0.022 |
0.006 |
2.44e-04 |
Wald ratio |
1 |
cis |
NA |
| Inflammatory bowel disease |
-0.0332 |
0.0094 |
4.11e-04 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K80 Cholelithiasis |
0.0491 |
0.0145 |
7.15e-04 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M54 Dorsalgia |
0.0541 |
0.0161 |
7.80e-04 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: L03 Cellulitis |
0.0751 |
0.0226 |
8.88e-04 |
Wald ratio |
1 |
cis |
NA |
| Transferrin Saturation |
0.03 |
0.00915 |
0.00106 |
Wald ratio |
1 |
cis |
NA |
| …and 121 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4139_71_2 |
IL-6 sRa |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
311 association rows across 163 traits (282 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 |
| Interleukin-6 receptor subunit alpha levels |
4e-5877 |
rs12126142 |
12 |
GCST90012025 |
no MR -> candidate analysis |
| Interleukin-6 receptor subunit alpha levels (IL6R.4139.71.2) |
7e-1101 |
rs4129267 |
5 |
GCST90241647 |
no MR -> candidate analysis |
| Blood protein levels |
8e-450 |
rs2228145 |
4 |
GCST006585 |
no MR -> candidate analysis |
| C-reactive protein levels |
3e-436 |
rs61812598 |
26 |
GCST009777 |
no MR -> candidate analysis |
| Circulating IL6 levels (id: OID00390_OID21276) |
6e-380 |
rs61812598 |
1 |
GCST90859752 |
no MR -> candidate analysis |
| Circulating IL6 levels (id: OID00482_OID21276) |
2e-364 |
rs61812598 |
1 |
GCST90859842 |
no MR -> candidate analysis |
| CSF1/IL6 protein level ratio |
3e-352 |
rs61812598 |
1 |
GCST90314285 |
no MR -> candidate analysis |
| Interleukin-6 receptor subunit alpha (analyte X4139.71) leve |
1e-346 |
rs2228145 |
1 |
GCST90425952 |
no MR -> candidate analysis |
| Circulating IL6 levels (id: OID00666_OID21276) |
4e-323 |
rs61812598 |
1 |
GCST90860010 |
no MR -> candidate analysis |
| Circulating IL6 levels (id: OID00947_OID21276) |
3e-319 |
rs61812598 |
1 |
GCST90860179 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein IL6R levels |
7e-316 |
rs4129267 |
1 |
GCST90945011 |
no MR -> candidate analysis |
| C-reactive protein |
9e-315 |
rs12730935 |
4 |
GCST90018950 |
no MR -> candidate analysis |
| …and 151 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 1042 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 |
| rheumatoid arthritis |
0.824 |
— |
common-variant locus |
MR: beta=-0.0748, p=1.49e-09 (cis) |
| Eczematoid dermatitis |
0.862 |
— |
established (curated) |
no MR -> candidate analysis |
| COVID-19 |
0.435 |
— |
common-variant locus |
no MR -> candidate analysis |
| juvenile idiopathic arthritis |
0.128 |
— |
common-variant locus |
MR: beta=-0.128, p=0.0105 (cis) |
| coronary artery disorder |
0.907 |
— |
common-variant locus |
no MR -> candidate analysis |
| hyper-IgE recurrent infection syndrome 5, autosomal recessive |
0.663 |
— |
established (curated) |
no MR -> candidate analysis |
| asthma |
0.882 |
— |
common-variant locus |
MR: beta=0.022, p=2.44e-04 (cis) |
| atopic eczema |
0.903 |
— |
common-variant locus |
no MR -> candidate analysis |
| dermatitis |
0.823 |
— |
common-variant locus |
no MR -> candidate analysis |
| abdominal aortic aneurysm |
0.867 |
— |
common-variant locus |
no MR -> candidate analysis |
| ankylosing spondylitis |
0.724 |
— |
common-variant locus |
MR: beta=-0.103, p=0.0257 (cis) |
| allergic rhinitis |
0.833 |
— |
common-variant locus |
no MR -> candidate analysis |
| myocardial infarction |
0.779 |
— |
common-variant locus |
MR: beta=-0.0377, p=8.01e-05 (cis) |
| coronary atherosclerosis |
0.79 |
— |
common-variant locus |
no MR -> candidate analysis |
| gout |
0.773 |
— |
common-variant locus |
MR: beta=0.0383, p=0.0304 (cis) |
Of the 15 rows above, 9 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 |
4 known modulators (Interleukin-6 receptor subunit alpha) |
| gnomAD constraint |
pLI=7.9e-11, LOEUF=1.03 — LoF-tolerant |
| GWAS Catalog |
149 unique SNPs / 368 rows |
| ClinVar |
366 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
3 clinical annotations across 1 drugs |
phenome — Top 30 of 1042 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 ‘IL6R’ and resolved to ‘Interleukin-6 receptor subunit alpha’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 366 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 163 traits by best p-value, aggregated from 311 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/P08887 — 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/ENSG00000160712/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2364155/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/IL6R — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/IL6R — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=IL6R%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=IL6R — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/IL6R — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T00:47:22 · 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