CausalSentinel

Protein Dossier — GSTM3 (Glutathione S-transferase Mu 3)

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
ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) -0.228 0.0582 9.22e-05 Wald ratio 1 cis NA
Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) -0.189 0.049 1.13e-04 Wald ratio 1 cis NA
Body mass index (BMI) -0.0541 0.0188 0.00399 Wald ratio 1 cis NA
Paget’s disease 1.3 0.453 0.00418 Wald ratio 1 cis NA
Height 0.0723 0.0269 0.00722 Wald ratio 1 cis NA
Happiness 0.0594 0.0232 0.0105 Wald ratio 1 cis NA
Urate 0.129 0.0522 0.0138 Wald ratio 1 cis NA
Non-cancer illness code self-reported: pernicious anaemia 0.35 0.157 0.0259 Wald ratio 1 cis NA
Diagnoses - main ICD10: C50 Malignant neoplasm of breast -0.265 0.122 0.0296 Wald ratio 1 cis NA
Eye problems or disorders: Cataract -0.161 0.076 0.0339 Wald ratio 1 cis NA
Diagnoses - main ICD10: K35 Acute appendicitis 0.272 0.131 0.0379 Wald ratio 1 cis NA
Iron 0.157 0.0783 0.0455 Wald ratio 1 cis NA
…and 88 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 (0 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
Alpha-CEHC sulfate levels in elite athletes 3e-6 rs3814309 1 GCST90133632 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 237 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
cystic fibrosis 0.608 established (curated) no MR -> candidate analysis
urinary bladder cancer 0.035 common-variant locus no MR -> candidate analysis
type 2 diabetes mellitus 0.052 common-variant locus no MR -> candidate analysis
breast cancer 0.04 common-variant locus MR: beta=-0.228, p=9.22e-05 (cis)

Of the 4 rows above, 3 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 (Glutathione S-transferase Mu 3)
gnomAD constraint pLI=1.4e-11, LOEUF=1.25 — LoF-tolerant
GWAS Catalog 85 unique SNPs / 170 rows
ClinVar 56 records; 0 pathogenic in sample of 30
PharmGKB/ClinPGx 4 clinical annotations across 3 drugs

Caveats declared by the tools

Sources

Provenance