Protein Dossier — AKR7A2 (Aflatoxin B1 aldehyde reductase member 2)
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 |
| Diagnoses - main ICD10: M23 Internal derangement of knee |
0.196 |
0.054 |
2.88e-04 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] |
0.176 |
0.0591 |
0.00287 |
Wald ratio |
1 |
cis |
NA |
| Fractured bone site(s): Arm |
0.222 |
0.0791 |
0.00494 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: N20 Calculus of kidney and ureter |
0.242 |
0.092 |
0.00855 |
Wald ratio |
1 |
cis |
NA |
| Body fat |
0.0679 |
0.0266 |
0.0107 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: pernicious anaemia |
0.327 |
0.132 |
0.0132 |
Wald ratio |
1 |
cis |
NA |
| Fractured or broken bones in last 5 years |
0.0639 |
0.0285 |
0.0253 |
Wald ratio |
1 |
cis |
NA |
| Body mass index (BMI) |
0.0215 |
0.00974 |
0.0274 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K35 Acute appendicitis |
0.231 |
0.113 |
0.0408 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: osteoarthritis |
0.0624 |
0.0307 |
0.0418 |
Wald ratio |
1 |
cis |
NA |
| Fractured bone site(s): Other bones |
0.0796 |
0.0392 |
0.0425 |
Wald ratio |
1 |
cis |
NA |
| 2hr glucose |
0.167 |
0.0826 |
0.0426 |
Wald ratio |
1 |
cis |
NA |
| …and 84 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4188_1_2 |
Aflatoxin B1 aldehyde reductase |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
17 association rows across 14 traits (15 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 |
| Urine X-24462 levels in chronic kidney disease |
9e-991 |
rs75708060 |
1 |
GCST90266727 |
no MR -> candidate analysis |
| Plasma X-24462 levels in chronic kidney disease |
2e-779 |
rs75708060 |
1 |
GCST90266726 |
no MR -> candidate analysis |
| X-24462 levels |
4e-426 |
rs75708060 |
1 |
GCST90140598 |
no MR -> candidate analysis |
| Urinary metabolite levels in chronic kidney disease |
2e-412 |
rs1043657 |
1 |
GCST009733 |
no MR -> candidate analysis |
| Aflatoxin B1 aldehyde reductase member 2 levels |
4e-46 |
rs116348652 |
3 |
GCST90137642 |
no MR -> candidate analysis |
| Serum levels of protein AKR7A2 |
1e-41 |
rs143187056 |
2 |
GCST90088623 |
no MR -> candidate analysis |
| AKR7L protein levels |
9e-40 |
rs143187056 |
1 |
GCST90468275 |
no MR -> candidate analysis |
| Urinary metabolite modules (eigenmetabolites) in chronic kid |
2e-26 |
rs1043657 |
1 |
GCST009735 |
no MR -> candidate analysis |
| ARK72 protein level (protein group normalized intensity) |
2e-21 |
rs1043657 |
1 |
GCST90570779 |
no MR -> candidate analysis |
| Aflatoxin B1 aldehyde reductase member 2 level in Chronic ki |
4e-19 |
rs79253438 |
1 |
GCST90237586 |
no MR -> candidate analysis |
| Pre-treatment viral load in HIV-1 infection |
2e-17 |
rs859208 |
1 |
GCST008758 |
no MR -> candidate analysis |
| DNA methylation PhenoAge acceleration |
3e-8 |
rs116348652 |
1 |
GCST90014298 |
no MR -> candidate analysis |
| …and 2 more traits (see JSON) |
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|
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 55 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 |
| hypothyroidism |
0.111 |
— |
common-variant locus |
MR: beta=0.0355, p=0.396 (cis) |
| cholelithiasis |
0.071 |
— |
common-variant locus |
no MR -> candidate analysis |
| kidney disorder |
0.053 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 3 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 |
0 known modulators (Aflatoxin B1 aldehyde reductase member 2) |
| gnomAD constraint |
pLI=2e-08, LOEUF=1.06 — LoF-tolerant |
| GWAS Catalog |
48 unique SNPs / 95 rows |
| ClinVar |
101 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 55 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘AKR7A2’ and resolved to ‘Aflatoxin B1 aldehyde reductase member 2’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 101 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 14 of 14 traits by best p-value, aggregated from 17 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/O43488 — 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/ENSG00000053371/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL6067037/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/AKR7A2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/AKR7A2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=AKR7A2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/AKR7A2 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:00:33 · 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