CausalSentinel

Protein Dossier — TMEM132C (Transmembrane protein 132C)

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
Ischemic stroke 0.171 0.0587 0.00358 Inverse variance weighted 2 cis NA
Ischemic stroke 0.171 0.0587 0.00358 Inverse variance weighted 2 trans NA
Thyroid cancer -0.887 0.306 0.00378 Inverse variance weighted 2 cis NA
Thyroid cancer -0.887 0.306 0.00378 Inverse variance weighted 2 trans NA
Diagnoses - main ICD10: I83 Varicose veins of lower extremities 0.137 0.0522 0.00847 Inverse variance weighted 2 cis NA
Diagnoses - main ICD10: I83 Varicose veins of lower extremities 0.137 0.0522 0.00847 Inverse variance weighted 2 trans NA
Diagnoses - main ICD10: L03 Cellulitis 0.204 0.0781 0.00917 Inverse variance weighted 2 cis NA
Diagnoses - main ICD10: L03 Cellulitis 0.204 0.0781 0.00917 Inverse variance weighted 2 trans NA
Ferritin 0.115 0.0497 0.0208 Wald ratio 1 trans NA
Fasting glucose 0.0884 0.0405 0.0291 Wald ratio 1 trans NA
Depressive symptoms -0.0479 0.0221 0.0303 Wald ratio 1 trans NA
Autism -0.208 0.0996 0.0369 Inverse variance weighted 2 cis NA
…and 173 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

67 association rows across 54 traits (28 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
Serum levels of protein TMEM132C 4e-41 rs7979166 2 GCST90089706 no MR -> candidate analysis
Transmembrane protein 132C levels 9e-40 rs11608284 3 GCST90249904 no MR -> candidate analysis
Blood protein levels 3e-27 rs28654182 1 GCST006585 no MR -> candidate analysis
Transmembrane protein 132C levels (TMEM132C.7173.141.3) 2e-18 rs11059617 2 GCST90243090 no MR -> candidate analysis
Random glucose levels 1e-12 rs78405915 1 GCST90134505 no MR -> candidate analysis
Fracture of hand or wrist (PheCode 804) 9e-12 rs542492963 1 GCST90480603 no MR -> candidate analysis
Core binding factor acute myeloid leukemia 1e-11 rs6486446; rs11059599 4 GCST008413 no MR -> candidate analysis
Cholelithiasis with acute cholecystitis (PheCode 574.11) 3e-11 rs141689732 1 GCST90480349 no MR -> candidate analysis
Uterine fibroids 4e-10 rs10773567 1 GCST90461957 MR: beta=0.0755, p=0.24 (cis)
Adolescent idiopathic scoliosis 7e-10 rs1713616 3 GCST006287 no MR -> candidate analysis
Alzheimer’s disease or family history of Alzheimer’s disease 1e-9 rs1875936746 2 GCST90624094 no MR -> candidate analysis
Neurofibrillary tangles (SNP x SNP interaction) 3e-9 rs10773782 x rs6486496 2 GCST010343 no MR -> candidate analysis
…and 42 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 98 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
alcohol drinking 0.722 common-variant locus no MR -> candidate analysis
adolescent idiopathic scoliosis 0.504 common-variant locus no MR -> candidate analysis
Hydrocephalus 0.492 common-variant locus no MR -> candidate analysis
bone remodeling disease 0.485 common-variant locus no MR -> candidate analysis
immune system disorder 0.484 common-variant locus no MR -> candidate analysis
Meniere disease 0.479 common-variant locus no MR -> candidate analysis
injury 0.473 common-variant locus MR: beta=0.463, p=0.195 (cis)
cervical carcinoma 0.443 common-variant locus no MR -> candidate analysis
squamous cell carcinoma 0.426 common-variant locus no MR -> candidate analysis
pernicious anemia 0.426 common-variant locus no MR -> candidate analysis
stroke disorder 0.426 common-variant locus no MR -> candidate analysis
osteoarthritis, hip 0.408 common-variant locus no MR -> candidate analysis
disease of peritoneum 0.407 common-variant locus no MR -> candidate analysis
jaw disease 0.407 common-variant locus no MR -> candidate analysis
uterine corpus leiomyoma 0.407 common-variant locus no MR -> candidate analysis

Of the 15 rows above, 14 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=0.0037, LOEUF=0.644 — LoF-tolerant
GWAS Catalog 89 unique SNPs / 166 rows
ClinVar 263 records; 4 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance