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 |
|---|---|---|---|---|---|---|---|
| Transferrin | -0.0722 | 0.0212 | 6.54e-04 | Wald ratio | 1 | cis | NA |
| Forearm bone mineral density | 0.0872 | 0.0319 | 0.00635 | Wald ratio | 1 | cis | NA |
| Ischemic stroke | -0.0872 | 0.0335 | 0.00932 | Wald ratio | 1 | cis | NA |
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | -0.0632 | 0.0243 | 0.00948 | Wald ratio | 1 | cis | NA |
| Hearing difficulty or problems: Yes | 0.0197 | 0.00833 | 0.0182 | Wald ratio | 1 | cis | NA |
| Sleep duration | -0.0082 | 0.00384 | 0.0329 | Wald ratio | 1 | cis | NA |
| HOMA-IR | -0.0176 | 0.00847 | 0.0372 | Wald ratio | 1 | cis | NA |
| Haemoglobin concentration | 0.0251 | 0.0122 | 0.0396 | Wald ratio | 1 | cis | NA |
| Rheumatoid arthritis | -0.0692 | 0.0346 | 0.0457 | Wald ratio | 1 | cis | NA |
| Ferritin | 0.0383 | 0.0192 | 0.0465 | Wald ratio | 1 | cis | NA |
| Clear cell ovarian cancer | 0.167 | 0.0861 | 0.053 | Wald ratio | 1 | cis | NA |
| Hirschsprung’s disease | 0.777 | 0.406 | 0.0559 | Wald ratio | 1 | cis | NA |
| …and 91 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
11 association rows across 8 traits (8 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 |
|---|---|---|---|---|---|
| QDPR protein levels | 4e-42 | rs200967774 | 4 | GCST90470400 | no MR -> candidate analysis |
| Dihydropteridine reductase levels | 3e-33 | rs3796809 | 1 | GCST90421397 | no MR -> candidate analysis |
| Circulating QDPR levels | 8e-30 | rs33912980 | 1 | GCST90860370 | no MR -> candidate analysis |
| 8-isoprostaglandin-F2alpha x bisphenol A interaction | 4e-9 | rs6855040 | 1 | GCST90061013 | no MR -> candidate analysis |
| Regional cortical thickness (lingual) | 2e-8 | rs3733574 | 1 | GCST90399887 | no MR -> candidate analysis |
| Alzheimer’s disease, proxy Alzheimer’s disease or related de | 3e-6 | rs147260776 | 1 | GCST90654661 | no MR -> candidate analysis |
| Cognitive performance (language) (longitudinal) | 6e-6 | rs78903959 | 1 | GCST90270903 | no MR -> candidate analysis |
| Response to platinum-based chemotherapy (carboplatin) | 8e-6 | rs2518590 | 1 | GCST001204 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 226 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 |
|---|---|---|---|---|
| dihydropteridine reductase deficiency | 0.933 | — | established (curated) | no MR -> candidate analysis |
| Hyperphenylalaninemia | 0.868 | — | established (curated) | no MR -> candidate analysis |
| 6-pyruvoyl-tetrahydropterin synthase deficiency | 0.559 | — | established (curated) | no MR -> candidate analysis |
| BH4-deficient hyperphenylalaninemia A | 0.559 | — | established (curated) | no MR -> candidate analysis |
| hemoglobin E disease | 0.438 | — | established (curated) | no MR -> candidate analysis |
| hyperphenylalaninemia due to tetrahydrobiopterin deficiency | 0.438 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.313 | — | established (curated) | no MR -> candidate analysis |
| hearing loss disorder | 0.256 | — | common-variant locus | no MR -> candidate analysis |
| arthropathy | 0.251 | — | common-variant locus | no MR -> candidate analysis |
| digestive system disorder | 0.135 | — | common-variant locus | no MR -> candidate analysis |
| secondary malignant neoplasm | 0.131 | — | common-variant locus | no MR -> candidate analysis |
| infectious meningitis | 0.115 | — | common-variant locus | no MR -> candidate analysis |
| male reproductive organ cancer | 0.115 | — | common-variant locus | no MR -> candidate analysis |
| Anisometropia | 0.113 | — | common-variant locus | no MR -> candidate analysis |
| cervical carcinoma | 0.11 | — | 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 (Dihydropteridine reductase) |
| gnomAD constraint | pLI=1.9e-06, LOEUF=1.03 — LoF-tolerant |
| GWAS Catalog | 43 unique SNPs / 83 rows |
| ClinVar | 483 records; 5 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 226 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 ‘QDPR’ and resolved to ‘Dihydropteridine reductase’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 483 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 8 of 8 traits by best p-value, aggregated from 11 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/P09417 — 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/ENSG00000151552/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3730/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/QDPR — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/QDPR — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=QDPR%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/QDPR — GWAS Catalog search API (live; release not exposed)