CausalSentinel

Protein Dossier — FNDC5 (Fibronectin type III domain-containing protein 5)

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
Femoral neck bone mineral density -0.103 0.0366 0.00481 Wald ratio 1 trans NA
Lumbar spine bone mineral density -0.12 0.0427 0.00494 Wald ratio 1 trans NA
Height 0.0392 0.014 0.0052 Wald ratio 1 trans NA
Cough on most days 0.138 0.0517 0.00739 Wald ratio 1 trans NA
Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux -0.156 0.0654 0.017 Wald ratio 1 trans NA
Diagnoses - main ICD10: R55 Syncope and collapse -0.519 0.218 0.0173 Wald ratio 1 trans NA
Non-cancer illness code self-reported: chronic obstructive airways disease or copd 0.324 0.147 0.0277 Wald ratio 1 trans NA
Diagnoses - main ICD10: L03 Cellulitis 0.222 0.104 0.033 Wald ratio 1 trans NA
Neuroticism 0.033 0.0165 0.0455 Wald ratio 1 trans NA
Triglycerides -0.0454 0.0227 0.0455 Wald ratio 1 trans NA
Diagnoses - main ICD10: I80 Phlebitis and thrombophlebitis 0.264 0.133 0.0466 Wald ratio 1 trans NA
Non-cancer illness code self-reported: muscle or soft tissue injuries -0.429 0.222 0.0538 Wald ratio 1 trans NA
…and 84 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

1 association rows across 1 traits (1 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
Daytime nap 2e-14 rs2786547 1 GCST011494 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 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
type 2 diabetes mellitus 0.045 common-variant locus no MR -> candidate analysis
obesity disorder 0.064 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 not available — no ChEMBL target (undrugged)
gnomAD constraint pLI=0.34, LOEUF=0.689 — LoF-tolerant
GWAS Catalog 18 unique SNPs / 36 rows
ClinVar 39 records; 2 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance