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 |
|---|---|---|---|---|---|---|---|
| Pallidum volume | -55.6 | 16.3 | 6.38e-04 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R10 Abdominal and pelvic pain | 0.232 | 0.0782 | 0.00305 | Wald ratio | 1 | cis | NA |
| Potassium in urine | 0.0547 | 0.0205 | 0.00778 | Wald ratio | 1 | cis | NA |
| Myocardial infarction | 0.197 | 0.0776 | 0.0112 | Wald ratio | 1 | cis | NA |
| Fractured or broken bones in last 5 years | 0.137 | 0.0553 | 0.0133 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: S66 Injury of muscle and tendon at wrist and hand level | 0.685 | 0.281 | 0.0146 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: H25 Senile cataract | 0.375 | 0.164 | 0.0223 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Wrist | 0.257 | 0.114 | 0.0234 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K20 Oesophagitis | 0.337 | 0.15 | 0.0251 | Wald ratio | 1 | cis | NA |
| Creatinine (enzymatic) in urine | 0.0432 | 0.0194 | 0.0257 | Wald ratio | 1 | cis | NA |
| Birth weight | -0.0681 | 0.0307 | 0.0263 | Wald ratio | 1 | cis | NA |
| Forced vital capacity (FVC) | -0.0365 | 0.0166 | 0.0284 | Wald ratio | 1 | cis | NA |
| …and 55 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
46 association rows across 31 traits (38 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 |
|---|---|---|---|---|---|
| Height | 3e-220 | rs8042740 | 11 | GCST90245848 | no MR -> candidate analysis |
| Standing height (UKB data field 50) | 3e-31 | rs12592845 | 1 | GCST90468178 | no MR -> candidate analysis |
| Height (baseline) | 6e-27 | rs79943855 | 2 | GCST90565843 | no MR -> candidate analysis |
| Height (maximum, inv-normal transformed) | 4e-25 | rs1820489 | 2 | GCST90479634 | no MR -> candidate analysis |
| height (mean, inv-normal transformed) | 5e-25 | rs1820489 | 2 | GCST90479635 | no MR -> candidate analysis |
| height (minimum, inv-normal transformed) | 2e-21 | rs1820489 | 1 | GCST90475364 | no MR -> candidate analysis |
| Serum levels of protein DUT | 6e-19 | rs76539098 | 1 | GCST90090954 | no MR -> candidate analysis |
| Body shape phenotype PC2 | 1e-17 | rs8042740 | 1 | GCST90832990 | no MR -> candidate analysis |
| Height (standard GWA) | 4e-17 | rs79943855 | 1 | GCST90267284 | no MR -> candidate analysis |
| Waist circumference adjusted for body mass index | 7e-16 | rs12592845 | 2 | GCST009867 | no MR -> candidate analysis |
| Physical function (baseline) | 3e-15 | rs8042740 | 2 | GCST90565837 | no MR -> candidate analysis |
| Body size (confirmatory factor analysis Factor 21) | 3e-12 | rs12592845 | 1 | GCST90309355 | no MR -> candidate analysis |
| …and 19 more traits (see JSON) |
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 |
|---|---|---|---|---|
| bone marrow failure and diabetes mellitus syndrome | 0.508 | — | established (curated) | no MR -> candidate analysis |
| benign neoplasm of eye | 0.232 | — | common-variant locus | no MR -> candidate analysis |
| pathological myopia | 0.182 | — | established (curated) | no MR -> candidate analysis |
| myopia | 0.182 | — | established (curated) | no MR -> candidate analysis |
| abdominal aortic aneurysm | 0.113 | — | common-variant locus | no MR -> candidate analysis |
| spontaneous coronary artery dissection | 0.107 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.093 | — | common-variant locus | no MR -> candidate analysis |
| refractive error | 0.091 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of refraction | 0.073 | — | common-variant locus | no MR -> candidate analysis |
| chronic hepatitis | 0.059 | — | common-variant locus | no MR -> candidate analysis |
| primary angle-closure glaucoma | 0.058 | — | common-variant locus | no MR -> candidate analysis |
| placental abruption | 0.058 | — | common-variant locus | no MR -> candidate analysis |
| bone Paget disease | 0.057 | — | common-variant locus | no MR -> candidate analysis |
| food allergy | 0.057 | — | common-variant locus | no MR -> candidate analysis |
| keloid | 0.054 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 15 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 (Deoxyuridine 5’-triphosphate nucleotidohydrolase, mitochondrial) |
| gnomAD constraint | pLI=5.5e-06, LOEUF=1.05 — LoF-tolerant |
| GWAS Catalog | 100 unique SNPs / 163 rows |
| ClinVar | 48 records; 10 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 98 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 ‘DUT’ and resolved to ‘Deoxyuridine 5’-triphosphate nucleotidohydrolase, mitochondrial’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 48 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 31 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/P33316 — 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/ENSG00000128951/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5203/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/DUT — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/DUT — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=DUT%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/DUT — GWAS Catalog search API (live; release not exposed)