MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
| Outcome | beta | se | p | method | nSNP | cis/trans | coloc |
|---|---|---|---|---|---|---|---|
| Height | 0.0152 | 0.00414 | 2.46e-04 | Wald ratio | 1 | cis | NA |
| Age at menarche | 0.0262 | 0.00815 | 0.0013 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) | 0.0672 | 0.0221 | 0.00234 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: depression | 0.0377 | 0.0132 | 0.00434 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N81 Female genital prolapse | 0.0716 | 0.0259 | 0.00575 | Wald ratio | 1 | cis | NA |
| Primary sclerosing cholangitis | -0.109 | 0.0414 | 0.00861 | Wald ratio | 1 | cis | NA |
| Urinary albumin-to-creatinine ratio | -0.0221 | 0.00856 | 0.00986 | Wald ratio | 1 | cis | NA |
| Ferritin | 0.0333 | 0.013 | 0.0104 | Wald ratio | 1 | cis | NA |
| Urate | -0.0193 | 0.00773 | 0.0124 | Wald ratio | 1 | cis | NA |
| Forced expiratory volume in 1-second (FEV1) | 0.0069 | 0.00288 | 0.0167 | Wald ratio | 1 | cis | NA |
| Neuroticism | -0.00966 | 0.00414 | 0.0196 | Wald ratio | 1 | cis | NA |
| PGC cross-disorder traits | -0.0381 | 0.0168 | 0.0238 | Wald ratio | 1 | cis | NA |
| …and 105 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
46 association rows across 30 traits (43 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 |
|---|---|---|---|---|---|
| Transcobalamin-2 levels | 2e-4615 | rs5753236 | 3 | GCST90249968 | no MR -> candidate analysis |
| Circulating TCN2 levels | 8e-1779 | rs740234 | 3 | GCST90860457 | no MR -> candidate analysis |
| Holo-Transcobalamin-2 levels | 5e-547 | rs1801198 | 2 | GCST90247921 | no MR -> candidate analysis |
| Transcobalamin-2 levels (TCN2.5584.21.3) | 4e-256 | rs4820885 | 4 | GCST90243041 | no MR -> candidate analysis |
| Serum levels of protein TCN2 | 5e-214 | rs5753236 | 3 | GCST90089075 | no MR -> candidate analysis |
| Cerebrospinal fluid protein TCN2 levels | 1e-122 | rs9621047 | 1 | GCST90945052 | no MR -> candidate analysis |
| Blood protein levels | 1e-120 | rs4820023 | 1 | GCST006585 | no MR -> candidate analysis |
| Vascular endothelial growth factor receptor 1 protein levels | 7e-61 | rs4820885 | 1 | GCST90443210 | no MR -> candidate analysis |
| Vitamin B12 levels | 5e-49 | rs1131603 | 2 | GCST90277442 | no MR -> candidate analysis |
| Vitamin B-complex deficiencies (PheCode 261.2) | 6e-46 | rs1131603 | 2 | GCST90479910 | no MR -> candidate analysis |
| F8WE86 protein level (protein group normalized intensity) | 2e-27 | rs4820023 | 1 | GCST90570768 | no MR -> candidate analysis |
| Other vitamin B12 deficiency anemia (PheCode 281.12) | 5e-25 | rs1131603 | 2 | GCST90479962 | no MR -> candidate analysis |
| …and 18 more traits (see JSON) |
Top diseases by Open Targets association (of 274 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 |
|---|---|---|---|---|
| transcobalamin II deficiency | 0.905 | — | established (curated) | no MR -> candidate analysis |
| Transcobalamin deficiency | 0.875 | — | established (curated) | no MR -> candidate analysis |
| Pancytopenia | 0.547 | — | established (curated) | no MR -> candidate analysis |
| vitamin B12 deficiency | 0.793 | — | common-variant locus | no MR -> candidate analysis |
| megaloblastic anemia | 0.793 | — | common-variant locus | no MR -> candidate analysis |
| vitamin B deficiency | 0.76 | — | common-variant locus | no MR -> candidate analysis |
| hereditary disease | 0.682 | — | established (curated) | no MR -> candidate analysis |
| deficiency anemia | 0.668 | — | common-variant locus | no MR -> candidate analysis |
| vitamin deficiency disorder | 0.662 | — | common-variant locus | no MR -> candidate analysis |
| transcobalamin I deficiency | 0.608 | — | established (curated) | no MR -> candidate analysis |
| Alzheimer disease | 0.517 | — | common-variant locus | no MR -> candidate analysis |
| Nephroblastoma | 0.445 | — | common-variant locus | no MR -> candidate analysis |
| atrial fibrillation | 0.3 | — | common-variant locus | MR: beta=0.0549, p=0.066 (cis) |
| aortic stenosis | 0.18 | — | common-variant locus | no MR -> candidate analysis |
| placenta praevia | 0.153 | — | 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.
| Layer | Result |
|---|---|
| ChEMBL druggability | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=1.3e-08, LOEUF=0.931 — LoF-tolerant |
| GWAS Catalog | 84 unique SNPs / 168 rows |
| ClinVar | 832 records; 6 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 274 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 ‘TCN2’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 832 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 20 of 30 traits by best p-value, aggregated from 46 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.uniprot: https://www.uniprot.org/uniprotkb/P20062 — 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/ENSG00000185339/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/TCN2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/TCN2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=TCN2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/TCN2 — GWAS Catalog search API (live; release not exposed)