CausalSentinel

Protein Dossier — RNASE1 (Ribonuclease pancreatic)

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
Underlying (primary) cause of death: ICD10: E85.4 Organ-limited amyloidosis 1.79 0.597 0.00266 Wald ratio 1 cis NA
Diagnoses - main ICD10: B37 Candidiasis 0.755 0.281 0.00726 Wald ratio 1 cis NA
Caudate volume 66.4 26.4 0.0119 Wald ratio 1 cis NA
Putamen volume 79.7 32.2 0.0134 Wald ratio 1 cis NA
Neo-neuroticism 1.23 0.539 0.0221 Wald ratio 1 cis NA
Rheumatoid arthritis -0.177 0.0804 0.0275 Wald ratio 1 cis NA
Fasting glucose 0.0391 0.0178 0.0282 Wald ratio 1 cis NA
Diagnoses - main ICD10: J33 Nasal polyp 0.272 0.129 0.0348 Wald ratio 1 cis NA
Diagnoses - main ICD10: G47 Sleep disorders 0.249 0.118 0.035 Wald ratio 1 cis NA
Height -0.0317 0.0169 0.0612 Wald ratio 1 cis NA
Fractured bone site(s): Arm 0.178 0.0974 0.0679 Wald ratio 1 cis NA
Small vessel disease 0.349 0.195 0.0737 Wald ratio 1 cis NA
…and 82 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

35 association rows across 26 traits (29 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
AZU1/RNASE3 protein level ratio 1e-422 rs112539509 1 GCST90313428 no MR -> candidate analysis
Circulating RNASE3 levels 2e-409 rs1763559 1 GCST90860416 no MR -> candidate analysis
RNASE1 protein levels 2e-208 rs12885981 3 GCST90470476 no MR -> candidate analysis
Monocyte side fluorescence 1e-59 rs6571511 1 GCST90281241 no MR -> candidate analysis
Ribonuclease pancreatic levels 8e-53 rs17254387 2 GCST90249353 no MR -> candidate analysis
Serum levels of protein RNASE1 2e-35 rs17254387 2 GCST90089740 no MR -> candidate analysis
Circulating CTRC levels 8e-29 rs35775091 1 GCST90859776 no MR -> candidate analysis
RNASE6 protein levels 6e-27 rs111513387 4 GCST90470479 no MR -> candidate analysis
Blood protein levels 3e-25 rs12885981 1 GCST006585 no MR -> candidate analysis
CTRC protein levels 4e-22 rs35775091 1 GCST90468906 no MR -> candidate analysis
Monocyte side fluorescence distribution width 5e-19 rs11845683 1 GCST90281244 no MR -> candidate analysis
Ebbinghaus illusion (overestimation) 8e-19 rs12878080 1 GCST011568 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 288 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
pregnancy disorder 0.163 common-variant locus no MR -> candidate analysis
placental abruption 0.124 common-variant locus no MR -> candidate analysis

Of the 2 rows above, 2 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 (Ribonuclease pancreatic)
gnomAD constraint pLI=NA, LOEUF=NA — Constraint metrics missing; LoF tolerance cannot be judged.
GWAS Catalog 65 unique SNPs / 130 rows
ClinVar 50 records; 9 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance