CausalSentinel

Protein Dossier — WFDC5 (WAP four-disulfide core domain 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
Height 0.0742 0.017 1.31e-05 Wald ratio 1 cis NA
Eczema 0.447 0.105 2.18e-05 Wald ratio 1 cis NA
Eye problems or disorders: Diabetes related eye disease 0.415 0.117 3.74e-04 Wald ratio 1 cis NA
Neuroblastoma -0.814 0.25 0.00113 Wald ratio 1 cis NA
Weight 0.0336 0.012 0.005 Wald ratio 1 cis NA
Neuroticism -0.0568 0.0218 0.00932 Wald ratio 1 cis NA
Mean platelet volume -0.0135 0.00568 0.0171 Wald ratio 1 cis NA
Lung cancer 0.231 0.0976 0.0179 Wald ratio 1 cis NA
Ischemic stroke 0.223 0.0956 0.0199 Wald ratio 1 cis NA
Melanoma -0.745 0.329 0.0234 Wald ratio 1 cis NA
Diagnoses - main ICD10: S76 Injury of muscle and tendon at hip and thigh level 0.766 0.343 0.0257 Wald ratio 1 cis NA
Triglycerides 0.0581 0.0271 0.0319 Wald ratio 1 cis NA
…and 95 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

12 association rows across 10 traits (12 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
LY6D/WFDC12 protein level ratio 5e-1373 rs2157361 1 GCST90315346 no MR -> candidate analysis
KLK8/WFDC12 protein level ratio 3e-1335 rs2157361 1 GCST90315259 no MR -> candidate analysis
CDSN/WFDC12 protein level ratio 6e-1322 rs2157361 1 GCST90313999 no MR -> candidate analysis
LGALS7_LGALS7B/WFDC12 protein level ratio 2e-1206 rs2157361 1 GCST90315317 no MR -> candidate analysis
Serum levels of protein WISP2 2e-128 rs760365325 1 GCST90089393 no MR -> candidate analysis
WFDC12 protein levels 7e-60 rs534712611 2 GCST90471073 no MR -> candidate analysis
Antileukoproteinase levels 1e-30 rs916311 1 GCST90246475 no MR -> candidate analysis
Cerebrospinal fluid protein WFDC12 levels 2e-10 rs6104016 1 GCST90944064 no MR -> candidate analysis
Bipolar disorder 6e-9 rs6130764 2 GCST011102 no MR -> candidate analysis
Eye color (hue) 2e-8 rs17422688 1 GCST007456 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 16 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 0.259 common-variant locus no MR -> candidate analysis
bipolar disorder 0.047 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=8.9e-06, LOEUF=1.47 — LoF-tolerant
GWAS Catalog 61 unique SNPs / 122 rows
ClinVar 32 records; 8 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance