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 | 0.0313 | 0.0107 | 0.00338 | Wald ratio | 1 | trans | NA |
| Neo-agreeableness | 0.621 | 0.229 | 0.00673 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: pneumothorax | 0.555 | 0.242 | 0.0219 | Wald ratio | 1 | trans | NA |
| Heel bone mineral density (BMD) T-score automated | 0.0238 | 0.0104 | 0.0221 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: I48 Atrial fibrillation and flutter | -0.203 | 0.0942 | 0.0312 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: J33 Nasal polyp | 0.185 | 0.0981 | 0.0591 | Wald ratio | 1 | trans | NA |
| Fractured bone site(s): Wrist | 0.0926 | 0.0524 | 0.0773 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: muscle or soft tissue injuries | 0.145 | 0.0827 | 0.0797 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: I83 Varicose veins of lower extremities | -0.108 | 0.0628 | 0.0844 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: K60 Fissure and fistula of anal and rectal regions | -0.275 | 0.162 | 0.0891 | Wald ratio | 1 | trans | NA |
| Haemoglobin concentration | 0.0426 | 0.0251 | 0.0894 | Wald ratio | 1 | trans | NA |
| Packed cell volume | 0.143 | 0.0865 | 0.0984 | Wald ratio | 1 | trans | NA |
| …and 84 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
59 association rows across 34 traits (51 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 |
|---|---|---|---|---|---|
| Circulating MARCO levels | 3e-58 | rs10872003 | 3 | GCST90859813 | no MR -> candidate analysis |
| REG3A protein levels | 1e-52 | rs12201703 | 1 | GCST90470449 | no MR -> candidate analysis |
| Circulating REG3A levels | 6e-48 | rs12201703 | 1 | GCST90860477 | no MR -> candidate analysis |
| TIMD4 protein levels | 3e-40 | rs10456852 | 1 | GCST90470866 | no MR -> candidate analysis |
| Circulating TIMD4 levels | 1e-30 | rs144220428 | 2 | GCST90860495 | no MR -> candidate analysis |
| Crohn’s disease | 3e-23 | rs7746082 | 7 | GCST003044 | no MR -> candidate analysis |
| Inflammatory bowel disease | 4e-22 | rs4946717 | 4 | GCST003043 | no MR -> candidate analysis |
| Chronic inflammatory diseases (ankylosing spondylitis, Crohn | 1e-21 | rs4946717 | 2 | GCST005537 | no MR -> candidate analysis |
| Photoreceptor cell layer thickness phenotypes (MTAG) | 1e-19 | rs74526772 | 1 | GCST90255614 | no MR -> candidate analysis |
| Non-HDL cholesterol levels | 1e-16 | rs6913325 | 2 | GCST90239667 | no MR -> candidate analysis |
| Circulating CD209 levels | 6e-14 | rs10872003 | 1 | GCST90860672 | no MR -> candidate analysis |
| Regenerating islet-derived protein 3-alpha levels | 1e-13 | rs10457139 | 1 | GCST90249275 | no MR -> candidate analysis |
| …and 22 more traits (see JSON) |
Top diseases by Open Targets association (of 776 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 |
|---|---|---|---|---|
| ulcerative colitis | 0.703 | — | common-variant locus | no MR -> candidate analysis |
| inflammatory bowel disease | 0.757 | — | common-variant locus | no MR -> candidate analysis |
| androgenetic alopecia | 0.699 | — | common-variant locus | no MR -> candidate analysis |
| Crohn disease | 0.684 | — | common-variant locus | no MR -> candidate analysis |
| psoriasis | 0.655 | — | common-variant locus | no MR -> candidate analysis |
| plasma cell myeloma | 0.08 | — | common-variant locus | no MR -> candidate analysis |
| Oral ulcer | 0.53 | — | common-variant locus | no MR -> candidate analysis |
| hypertensive disorder | 0.525 | — | common-variant locus | no MR -> candidate analysis |
| insomnia | 0.522 | — | common-variant locus | no MR -> candidate analysis |
| ulcerative proctosigmoiditis | 0.5 | — | common-variant locus | no MR -> candidate analysis |
Of the 10 rows above, 10 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 (PR domain zinc finger protein 1) |
| gnomAD constraint | pLI=1, LOEUF=0.329 — LoF-INTOLERANT |
| GWAS Catalog | 73 unique SNPs / 145 rows |
| ClinVar | 137 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 776 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 ‘PRDM1’ and resolved to ‘PR domain zinc finger protein 1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 137 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 34 traits by best p-value, aggregated from 59 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/O75626 — 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/ENSG00000057657/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5214860/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/PRDM1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PRDM1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PRDM1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PRDM1 — GWAS Catalog search API (live; release not exposed)