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 | -0.0899 | 0.0121 | 9.56e-14 | Wald ratio | 1 | cis | 0.99 |
| Weight | -0.0376 | 0.00856 | 1.14e-05 | Wald ratio | 1 | cis | NA |
| Forced vital capacity (FVC) | -0.029 | 0.00796 | 2.73e-04 | Wald ratio | 1 | cis | NA |
| Forced expiratory volume in 1-second (FEV1) | -0.0259 | 0.00839 | 0.00207 | Wald ratio | 1 | cis | NA |
| Transferrin Saturation | 0.119 | 0.0403 | 0.00306 | Wald ratio | 1 | cis | NA |
| Depressive symptoms | -0.036 | 0.0128 | 0.00511 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb | 0.172 | 0.0624 | 0.0058 | Wald ratio | 1 | cis | NA |
| Urate | -0.0616 | 0.0223 | 0.0058 | Wald ratio | 1 | cis | NA |
| Intracranial volume | -2.07e+04 | 7.74e+03 | 0.00759 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K20 Oesophagitis | 0.212 | 0.0798 | 0.00792 | Wald ratio | 1 | cis | NA |
| Transferrin | -0.103 | 0.0411 | 0.0122 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: osteoarthritis | 0.0736 | 0.0302 | 0.0147 | Wald ratio | 1 | cis | NA |
| …and 99 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
19 association rows across 14 traits (16 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 |
|---|---|---|---|---|---|
| X-17359 levels | 3e-55 | rs61854347 | 1 | GCST90245633 | no MR -> candidate analysis |
| Body size or adipose distribution (multivariate analysis) | 6e-36 | rs7908994 | 1 | GCST90624105 | no MR -> candidate analysis |
| Height | 1e-33 | rs7908994 | 1 | GCST90245844 | MR: beta=-0.0899, p=9.56e-14 (cis) |
| Body shape phenotype PC3 | 2e-29 | rs71230207 | 1 | GCST90832991 | no MR -> candidate analysis |
| Aldo-keto reductase family 1 member C1 levels (AKR1C1.12618. | 4e-23 | rs145648894 | 1 | GCST90240226 | no MR -> candidate analysis |
| Waist-hip index | 5e-19 | rs41305661 | 3 | GCST012228 | no MR -> candidate analysis |
| COL9A1 protein levels | 2e-17 | rs56136181 | 1 | GCST90468822 | no MR -> candidate analysis |
| Waist-to-hip ratio adjusted for BMI | 2e-16 | rs41305661 | 2 | GCST012230 | no MR -> candidate analysis |
| Hip index | 2e-12 | rs41305661 | 2 | GCST012229 | no MR -> candidate analysis |
| Waist circumference adjusted for body mass index | 8e-12 | rs41305661 | 2 | GCST012226 | no MR -> candidate analysis |
| Bone mineral density mean | 9e-11 | rs76207412 | 1 | GCST90321120 | no MR -> candidate analysis |
| Hypopharyngeal or laryngeal cancer | 1e-7 | rs77045180 | 1 | GCST010285 | no MR -> candidate analysis |
| …and 2 more traits (see JSON) |
Top diseases by Open Targets association (of 397 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 | 0.621 | — | common-variant locus | no MR -> candidate analysis |
| Peyronie disease | 0.559 | — | common-variant locus | no MR -> candidate analysis |
| fasciitis | 0.558 | — | common-variant locus | no MR -> candidate analysis |
| carpal tunnel syndrome | 0.431 | — | common-variant locus | no MR -> candidate analysis |
| atrial septal defect | 0.401 | — | common-variant locus | no MR -> candidate analysis |
| lung abscess | 0.303 | — | common-variant locus | no MR -> candidate analysis |
| bronchopneumonia | 0.303 | — | common-variant locus | no MR -> candidate analysis |
Of the 7 rows above, 7 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 | 0 known modulators (Aldo-keto reductase family 1 member C1) |
| gnomAD constraint | pLI=2.6e-09, LOEUF=1.06 — LoF-tolerant |
| GWAS Catalog | 73 unique SNPs / 146 rows |
| ClinVar | 107 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 397 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 ‘AKR1C1’ and resolved to ‘Aldo-keto reductase family 1 member C1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 107 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 19 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/Q04828 — 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/ENSG00000187134/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5905/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/AKR1C1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/AKR1C1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=AKR1C1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/AKR1C1 — GWAS Catalog search API (live; release not exposed)