Protein Dossier — TXNDC12 (Thioredoxin domain-containing protein 12)
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 |
| Inflammatory bowel disease |
0.134 |
0.0147 |
9.90e-20 |
Wald ratio |
1 |
trans |
3.07e-31 |
| Crohn’s disease |
0.133 |
0.0178 |
6.13e-14 |
Wald ratio |
1 |
trans |
9.83e-18 |
| Ulcerative colitis |
0.132 |
0.0184 |
5.86e-13 |
Wald ratio |
1 |
trans |
2.28e-22 |
| Serum creatinine (eGFRcrea) |
0.00548 |
0.0013 |
2.51e-05 |
Wald ratio |
1 |
trans |
NA |
| Transferrin Saturation |
-0.0592 |
0.0152 |
1.00e-04 |
Wald ratio |
1 |
trans |
NA |
| Iron |
-0.0586 |
0.0151 |
1.08e-04 |
Wald ratio |
1 |
trans |
NA |
| Primary sclerosing cholangitis |
0.163 |
0.0436 |
1.86e-04 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: hypertension |
0.0215 |
0.00607 |
3.86e-04 |
Wald ratio |
1 |
trans |
NA |
| Age at menarche |
-0.0297 |
0.00884 |
7.70e-04 |
Wald ratio |
1 |
trans |
NA |
| Anorexia nervosa |
0.172 |
0.0512 |
7.82e-04 |
Wald ratio |
1 |
trans |
NA |
| Heel bone mineral density (BMD) T-score automated |
-0.0156 |
0.00471 |
9.25e-04 |
Wald ratio |
1 |
trans |
NA |
| Serum cystatin C (eGFRcys) |
0.00929 |
0.00288 |
0.00126 |
Wald ratio |
1 |
trans |
NA |
| …and 117 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4815_25_3 |
TXD12 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
2 association rows across 2 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 |
| Plasma PCSK9 levels |
1e-7 |
rs35120342 |
1 |
GCST90085917 |
no MR -> candidate analysis |
| General cognitive ability |
2e-7 |
rs12406969 |
1 |
GCST006269 |
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 90 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 |
| protozoa infectious disease |
0.389 |
— |
common-variant locus |
no MR -> candidate analysis |
| response to statin |
0.033 |
— |
common-variant locus |
no MR -> candidate analysis |
| knee fracture |
0.032 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 3 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 |
not available — no ChEMBL target (undrugged) |
| gnomAD constraint |
pLI=1.2e-07, LOEUF=1.3 — LoF-tolerant |
| GWAS Catalog |
6 unique SNPs / 12 rows |
| ClinVar |
94 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 90 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — No ChEMBL target for ‘TXNDC12’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 94 ClinVar records for this gene; it is a sample, not a rate.pharmgkb — No PharmGKB/ClinPGx clinical annotations (gene may not be a pharmacogene).gwas_traits — Top 2 of 2 traits by best p-value, aggregated from 2 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/O95881 — UniProt release 2026_02 (10-June-2026)mr_outcomes: https://epigraphdb.org/pqtl/ — EpiGraphDB pQTL MR (Zheng et al., Nat Genet 2020) — pre-computed two-sample MR; retrieved, not computed by this agent; EpiGraphDB build 1.0, pQTL dataset v3.0phenome: https://platform.opentargets.org/target/ENSG00000117862/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/TXNDC12 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/TXNDC12 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=TXNDC12%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/TXNDC12 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T05:30:07 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: none