CausalSentinel

Protein Dossier — IFI16 (Gamma-interferon-inducible protein 16)

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
Myocardial infarction 0.092 0.0319 0.00396 Wald ratio 1 cis NA
Diagnoses - main ICD10: L03 Cellulitis 0.184 0.0654 0.00496 Wald ratio 1 cis NA
Intracranial volume -1.46e+04 5.35e+03 0.00653 Wald ratio 1 cis NA
Fracture resulting from simple fall -0.0484 0.0194 0.0126 Wald ratio 1 cis NA
Diagnoses - main ICD10: C61 Malignant neoplasm of prostate 0.173 0.073 0.0176 Wald ratio 1 cis NA
Amygdala volume 15.2 6.62 0.0214 Wald ratio 1 cis NA
Hirschsprung’s disease 0.643 0.283 0.0228 Wald ratio 1 cis NA
Diagnoses - main ICD10: K29 Gastritis and duodenitis 0.0939 0.0415 0.0237 Wald ratio 1 cis NA
Coronary heart disease 0.0649 0.0291 0.0258 Wald ratio 1 cis NA
Diagnoses - main ICD10: R07 Pain in throat and chest 0.0612 0.0295 0.0383 Wald ratio 1 cis NA
Fasting glucose -0.0434 0.0235 0.0643 Wald ratio 1 cis NA
Cough on most days -0.0688 0.0387 0.0752 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

29 association rows across 26 traits (20 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
Gamma-interferon-inducible protein 16 levels (IFI16.12893.15 3e-49 rs72709516 1 GCST90241236 no MR -> candidate analysis
DNA methylation-estimated granulocyte proportions 5e-49 rs856046 2 GCST90014293 no MR -> candidate analysis
SLAMF8 protein levels 7e-48 rs145587930 1 GCST90470652 no MR -> candidate analysis
Hematology traits 5e-47 rs4657616 1 GCST001779 no MR -> candidate analysis
White blood cell count 2e-44 rs4657616 1 GCST008049 no MR -> candidate analysis
C-reactive protein levels (UKB data field 30710) 1e-24 rs140853922 1 GCST90468064 no MR -> candidate analysis
C-reactive protein levels (MTAG) 1e-19 rs140853922 1 GCST90179146 no MR -> candidate analysis
Hematological traits (multi-trait analysis) 9e-14 rs1633267 2 GCST90838669 no MR -> candidate analysis
C-C motif chemokine 14 levels 1e-13 rs1633256 2 GCST90161535 no MR -> candidate analysis
Estimated glomerular filtration rate (cystatin c) 1e-13 rs3835724 1 GCST90428448 no MR -> candidate analysis
Lymphocyte percentage of white cells 2e-12 rs1633267 1 GCST90002389 no MR -> candidate analysis
Estimated glomerular filtration rate (creatinine, cystatin c 9e-11 rs3835724 1 GCST90428446 no MR -> candidate analysis
…and 14 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 630 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
Anisometropia 0.414 common-variant locus no MR -> candidate analysis
aging 0.409 common-variant locus no MR -> candidate analysis
stroke disorder 0.304 common-variant locus no MR -> candidate analysis
alcohol drinking 0.304 common-variant locus no MR -> candidate analysis
neutropenia 0.16 common-variant locus no MR -> candidate analysis
Decreased total leukocyte count 0.134 common-variant locus no MR -> candidate analysis

Of the 6 rows above, 6 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 not available — no ChEMBL target (undrugged)
gnomAD constraint pLI=2.7e-12, LOEUF=0.909 — LoF-tolerant
GWAS Catalog 37 unique SNPs / 74 rows
ClinVar 151 records; 2 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance