CausalSentinel

Protein Dossier — IFNAR1 (Interferon alpha/beta 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
Cancer code self-reported: basal cell carcinoma 0.311 0.0957 0.00114 Wald ratio 1 cis NA
Cancer code self-reported: small intestine or small bowel cancer 0.827 0.281 0.00323 Wald ratio 1 cis NA
Age at menopause -0.276 0.104 0.00766 Wald ratio 1 cis NA
Non-cancer illness code self-reported: enlarged prostate -0.42 0.167 0.0118 Wald ratio 1 cis NA
Fasting insulin 0.0414 0.0166 0.0124 Wald ratio 1 cis NA
ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) 0.13 0.0604 0.0317 Wald ratio 1 cis NA
HbA1C -0.0373 0.0176 0.0342 Wald ratio 1 cis NA
Birth weight -0.0376 0.0183 0.0397 Wald ratio 1 cis NA
Age at menarche 0.0656 0.0319 0.04 Wald ratio 1 cis NA
Forced vital capacity (FVC) -0.0206 0.0102 0.0428 Wald ratio 1 cis NA
Diagnoses - main ICD10: R07 Pain in throat and chest 0.0981 0.0502 0.0506 Wald ratio 1 cis NA
Non-cancer illness code self-reported: psoriasis -0.318 0.166 0.0551 Wald ratio 1 cis NA
…and 72 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).

3. GWAS Catalog results — traits with signal at this locus

50 association rows across 23 traits (41 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
Interferon alpha/beta receptor 1 levels 3e-328 rs2257167 5 GCST90247991 no MR -> candidate analysis
Cerebrospinal fluid protein IFNAR1 levels 6e-281 rs2211687 1 GCST90943495 no MR -> candidate analysis
Interferon alpha/beta receptor 1 (analyte X9183.7) levels 9e-260 rs2211687 1 GCST90427684 no MR -> candidate analysis
IL10RB protein levels 1e-85 rs10470090 10 GCST90469545 no MR -> candidate analysis
IFNAR1 protein levels 9e-85 rs62654645 8 GCST90469512 no MR -> candidate analysis
Interferon alpha/beta receptor 1 level in Chronic kidney dis 5e-58 rs2257167 1 GCST90239231 no MR -> candidate analysis
Serum levels of protein IFNAR1 1e-53 rs2257167 2 GCST90090540 no MR -> candidate analysis
Blood protein levels 3e-32 rs2257167 1 GCST006585 no MR -> candidate analysis
Hematological traits (multi-trait analysis) 2e-31 rs71314166 1 GCST90838669 no MR -> candidate analysis
Interferon alpha/beta receptor 1 levels (IFNAR1.9183.7.3) 1e-15 rs2257167 1 GCST90241551 no MR -> candidate analysis
Hypothyroidism 4e-15 rs969478 2 GCST90627750 no MR -> candidate analysis
Sperm acrosome-associated protein 5 protein levels (SomaScan 5e-14 rs62226371 1 GCST90441594 no MR -> candidate analysis
…and 11 more traits (see JSON)          

4. Phenome map — where this gene is a genetic locus, vs. where MR exists

Top diseases by Open Targets association (of 631 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 106, susceptibility to viral infections 0.794 established (curated) no MR -> candidate analysis

Of the 1 rows above, 1 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 alpha/beta receptor 1)
gnomAD constraint pLI=1.3e-12, LOEUF=0.966 — LoF-tolerant
GWAS Catalog 103 unique SNPs / 219 rows
ClinVar 439 records; 4 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance