CausalSentinel

Protein Dossier — NAPB (Beta-soluble NSF attachment protein)

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
Non-cancer illness code self-reported: enlarged prostate 0.283 0.094 0.0026 Wald ratio 1 trans NA
Forced expiratory volume in 1-second (FEV1) 0.0346 0.0125 0.0057 Wald ratio 1 trans NA
Fasting glucose 0.0495 0.0196 0.0115 Wald ratio 1 trans NA
Hearing difficulty or problems: Yes -0.0662 0.0267 0.013 Wald ratio 1 trans NA
Non-cancer illness code self-reported: bladder problem (not cancer) 0.33 0.14 0.0181 Wald ratio 1 trans NA
Ferritin -0.131 0.0576 0.0236 Wald ratio 1 trans NA
Diagnoses - main ICD10: C50 Malignant neoplasm of breast 0.192 0.0942 0.0412 Wald ratio 1 trans NA
Cancer code self-reported: malignant melanoma 0.259 0.129 0.0445 Wald ratio 1 trans NA
Non-cancer illness code self-reported: muscle or soft tissue injuries 0.258 0.135 0.0556 Wald ratio 1 trans NA
Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms -0.319 0.167 0.0567 Wald ratio 1 trans NA
Forced vital capacity (FVC) 0.0225 0.0119 0.0577 Wald ratio 1 trans NA
Non-cancer illness code self-reported: migraine 0.137 0.0732 0.0611 Wald ratio 1 trans NA
…and 78 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

7 association rows across 4 traits (3 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
Cystatin C levels 8e-200 rs78916169 3 GCST90019504 no MR -> candidate analysis
Factor VII activity 4e-7 rs6083120 1 GCST007401 no MR -> candidate analysis
COVID-19 (severe respiratory symptoms vs population) 2e-6 rs11480078 1 GCST90027249 no MR -> candidate analysis
Facial morphology (factor 15, philtrum width) 3e-6 rs6076065 2 GCST004319 no MR -> candidate analysis

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

Top diseases by Open Targets association (of 312 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
abortion 0.317 common-variant locus no MR -> candidate analysis
hereditary disease 0.314 established (curated) no MR -> candidate analysis
Spasticity - intellectual disability - X-linked epilepsy 0.182 established (curated) no MR -> candidate analysis
developmental and epileptic encephalopathy, 1 0.182 established (curated) no MR -> candidate analysis

Of the 4 rows above, 4 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=3.5e-05, LOEUF=0.808 — LoF-tolerant
GWAS Catalog 39 unique SNPs / 77 rows
ClinVar 74 records; 0 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance