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 |
|---|---|---|---|---|---|---|---|
| Alzheimer’s disease | 0.197 | 0.0455 | 1.53e-05 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N40 Hyperplasia of prostate | 0.0725 | 0.0287 | 0.0115 | Inverse variance weighted | 2 | cis | NA |
| Diagnoses - main ICD10: N40 Hyperplasia of prostate | 0.0725 | 0.0287 | 0.0115 | Inverse variance weighted | 2 | trans | NA |
| Non-cancer illness code self-reported: osteoporosis | 0.0517 | 0.0226 | 0.022 | Inverse variance weighted | 2 | cis | NA |
| Non-cancer illness code self-reported: osteoporosis | 0.0517 | 0.0226 | 0.022 | Inverse variance weighted | 2 | trans | NA |
| Microalbuminuria | 0.145 | 0.0638 | 0.023 | Wald ratio | 1 | cis | NA |
| Platelet count | 2.55 | 1.2 | 0.0335 | Wald ratio | 1 | cis | NA |
| Mean cell haemoglobin | -0.0621 | 0.0302 | 0.0396 | Wald ratio | 1 | cis | NA |
| Birth length | 0.0615 | 0.0302 | 0.0415 | Wald ratio | 1 | cis | NA |
| Lumbar spine bone mineral density | 0.0498 | 0.0263 | 0.0578 | Wald ratio | 1 | cis | NA |
| HOMA-B | -0.0186 | 0.00986 | 0.0598 | Wald ratio | 1 | cis | NA |
| Mean cell volume | -0.141 | 0.0766 | 0.0651 | Wald ratio | 1 | cis | NA |
| …and 129 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
414 association rows across 172 traits (403 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 |
|---|---|---|---|---|---|
| Eosinophil count | 4e-476 | rs13089722 | 22 | GCST90002302 | no MR -> candidate analysis |
| Eosinophil percentage of white cells | 2e-467 | rs6782812 | 7 | GCST90002382 | no MR -> candidate analysis |
| Monocyte count | 8e-369 | rs6789546 | 22 | GCST90002344 | no MR -> candidate analysis |
| Basophil count | 9e-332 | rs13089722 | 8 | GCST90002296 | no MR -> candidate analysis |
| monocyte (fraction, mean, inv-norm transformed) | 1e-323 | rs6798431 | 2 | GCST90479705 | no MR -> candidate analysis |
| Basophil (fraction, maximum, inv-norm transformed) | 1e-323 | rs4857909 | 3 | GCST90479515 | no MR -> candidate analysis |
| Basophil (fraction, minimum, inv-norm transformed) | 1e-323 | rs4857909 | 3 | GCST90479517 | no MR -> candidate analysis |
| eosinophil (fraction, maximum, inv-norm transformed) | 1e-323 | rs4857909 | 3 | GCST90479604 | no MR -> candidate analysis |
| eosinophil (absolute count, mean, inv-norm transformed) | 1e-323 | rs4857909 | 4 | GCST90475291 | no MR -> candidate analysis |
| eosinophil (fraction, mean, inv-norm transformed) | 1e-323 | rs4857909 | 3 | GCST90479605 | no MR -> candidate analysis |
| monocyte (fraction, maximum, inv-norm transformed) | 4e-293 | rs9289330 | 2 | GCST90479704 | no MR -> candidate analysis |
| monocyte (fraction, minimum, inv-norm transformed) | 2e-284 | rs9289330 | 3 | GCST90475514 | no MR -> candidate analysis |
| …and 160 more traits (see JSON) |
Top diseases by Open Targets association (of 221 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 |
|---|---|---|---|---|
| COVID-19 | 0.474 | — | common-variant locus | no MR -> candidate analysis |
| aging | 0.574 | — | common-variant locus | no MR -> candidate analysis |
| severe acute respiratory syndrome | 0.474 | — | common-variant locus | no MR -> candidate analysis |
| myeloproliferative disorder | 0.456 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.364 | — | common-variant locus | no MR -> candidate analysis |
| prostate carcinoma | 0.098 | — | common-variant locus | no MR -> candidate analysis |
Of the 6 rows above, 6 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 (Dolichyl-diphosphooligosaccharide–protein glycosyltransferase subunit 1) |
| gnomAD constraint | pLI=1, LOEUF=0.35 — LoF-INTOLERANT |
| GWAS Catalog | 144 unique SNPs / 362 rows |
| ClinVar | 117 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 221 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 ‘RPN1’ and resolved to ‘Dolichyl-diphosphooligosaccharide–protein glycosyltransferase subunit 1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 117 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 172 traits by best p-value, aggregated from 414 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/P04843 — 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/ENSG00000163902/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4295697/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/RPN1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/RPN1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=RPN1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/RPN1 — GWAS Catalog search API (live; release not exposed)