Protein Dossier — IFNGR1 (Interferon gamma 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 |
| Major depressive disorder |
0.182 |
0.0971 |
0.0603 |
Wald ratio |
1 |
trans |
NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
-0.0442 |
0.0273 |
0.105 |
Wald ratio |
1 |
trans |
NA |
| Rheumatoid arthritis |
0.123 |
0.0825 |
0.136 |
Wald ratio |
1 |
trans |
NA |
| Squamous cell lung cancer |
0.18 |
0.13 |
0.167 |
Wald ratio |
1 |
trans |
NA |
| Hip osteoarthritis |
-0.133 |
0.106 |
0.208 |
Wald ratio |
1 |
trans |
NA |
| Platelet count |
-38.6 |
31.6 |
0.222 |
Wald ratio |
1 |
trans |
NA |
| Invasive mucinous ovarian cancer |
0.201 |
0.165 |
0.223 |
Wald ratio |
1 |
trans |
NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
-0.0393 |
0.0327 |
0.23 |
Wald ratio |
1 |
trans |
NA |
| Primary sclerosing cholangitis |
0.146 |
0.123 |
0.234 |
Wald ratio |
1 |
trans |
NA |
| Depressive symptoms |
-0.016 |
0.0144 |
0.267 |
Wald ratio |
1 |
trans |
NA |
| Knee and hip osteoarthritis |
-0.0819 |
0.0774 |
0.29 |
Wald ratio |
1 |
trans |
NA |
| Birth weight |
0.0163 |
0.0155 |
0.293 |
Wald ratio |
1 |
trans |
NA |
| …and 7 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3716_63_2 |
IFN-g R1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
57 association rows across 38 traits (34 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 |
| Bone mineral density mean |
1e-300 |
rs12195682 |
2 |
GCST90321120 |
no MR -> candidate analysis |
| CD58/IFNGR1 protein level ratio |
2e-200 |
rs9376267 |
1 |
GCST90313849 |
no MR -> candidate analysis |
| Circulating IFNGR1 levels |
4e-155 |
rs11754268 |
2 |
GCST90860014 |
no MR -> candidate analysis |
| IFNGR1 protein levels |
3e-150 |
rs9376267 |
2 |
GCST90469513 |
no MR -> candidate analysis |
| Mouth ulcers |
2e-62 |
rs7749390 |
1 |
GCST007839 |
no MR -> candidate analysis |
| BTN2A1/IFNGR1 protein level ratio |
2e-23 |
rs76483967 |
1 |
GCST90313543 |
no MR -> candidate analysis |
| Interleukin-22 receptor subunit alpha-2 levels |
1e-19 |
rs2234711 |
2 |
GCST90248060 |
no MR -> candidate analysis |
| Circulating IFNG levels (id: OID05552_OID20495) |
2e-13 |
rs2797679 |
2 |
GCST90860764 |
no MR -> candidate analysis |
| IFNG protein levels |
2e-13 |
rs2797679 |
1 |
GCST90469515 |
no MR -> candidate analysis |
| Cerebellar grey matter morphology (MOSTest) |
7e-13 |
rs4142801 |
1 |
GCST90728589 |
no MR -> candidate analysis |
| TIMD4 protein levels |
4e-12 |
rs2797670 |
1 |
GCST90470866 |
no MR -> candidate analysis |
| Circulating TIMD4 levels |
7e-12 |
rs2797670 |
1 |
GCST90860495 |
no MR -> candidate analysis |
| …and 26 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 1004 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 |
| disseminated atypical mycobacterial infection |
0.895 |
— |
established (curated) |
no MR -> candidate analysis |
| Oral ulcer |
0.708 |
— |
common-variant locus |
no MR -> candidate analysis |
| immunodeficiency disease |
0.559 |
— |
established (curated) |
no MR -> candidate analysis |
| hypothyroidism |
0.545 |
— |
common-variant locus |
no MR -> candidate analysis |
| obesity disorder |
0.477 |
— |
common-variant locus |
no MR -> candidate analysis |
| septic shock |
0.061 |
— |
common-variant locus |
no MR -> candidate analysis |
| overnutrition |
0.417 |
— |
common-variant locus |
no MR -> candidate analysis |
| Graves disease |
0.366 |
— |
common-variant locus |
no MR -> candidate analysis |
| nephrolithiasis |
0.339 |
— |
common-variant locus |
no MR -> candidate analysis |
| pituitary gland disorder |
0.331 |
— |
common-variant locus |
no MR -> candidate analysis |
| stroke disorder |
0.326 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 11 rows above, 11 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 (Interferon gamma receptor) |
| gnomAD constraint |
pLI=1.3e-05, LOEUF=0.922 — LoF-tolerant |
| GWAS Catalog |
48 unique SNPs / 78 rows |
| ClinVar |
460 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 1004 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 ‘IFNGR1’ and resolved to ‘Interferon gamma receptor’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 460 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 38 traits by best p-value, aggregated from 57 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/P15260 — 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/ENSG00000027697/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2364171/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/IFNGR1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/IFNGR1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=IFNGR1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/IFNGR1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:06:44 · 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