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 |
|---|---|---|---|---|---|---|---|
| Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux | 0.183 | 0.0605 | 0.0025 | Wald ratio | 1 | cis | NA |
| Microalbuminuria | -0.4 | 0.132 | 0.0025 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I48 Atrial fibrillation and flutter | 0.31 | 0.106 | 0.00339 | Wald ratio | 1 | cis | NA |
| Neo-agreeableness | 0.879 | 0.325 | 0.00681 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: diverticular disease or diverticulitis | 0.279 | 0.109 | 0.0106 | Wald ratio | 1 | cis | NA |
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.171 | 0.0673 | 0.011 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema | 0.146 | 0.0579 | 0.0119 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Wrist | -0.364 | 0.159 | 0.0221 | Wald ratio | 1 | cis | NA |
| Urate | -0.0676 | 0.0307 | 0.0278 | Wald ratio | 1 | cis | NA |
| Fractured or broken bones in last 5 years | -0.116 | 0.0528 | 0.0279 | Wald ratio | 1 | cis | NA |
| Hearing difficulty or problems: Yes | -0.0598 | 0.0276 | 0.0301 | Wald ratio | 1 | cis | NA |
| Vascular or heart problems diagnosed by doctor: Angina | -0.232 | 0.108 | 0.0312 | Wald ratio | 1 | cis | NA |
| …and 97 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
25 association rows across 18 traits (21 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 |
|---|---|---|---|---|---|
| GFER/RRM2B protein level ratio | 4e-115 | rs11784180 | 1 | GCST90314920 | no MR -> candidate analysis |
| RRM2B/SUGT1 protein level ratio | 2e-103 | rs11784180 | 1 | GCST90315789 | no MR -> candidate analysis |
| RRM2B/SMAD1 protein level ratio | 7e-90 | rs11784180 | 1 | GCST90315788 | no MR -> candidate analysis |
| Ribonucleoside-diphosphate reductase subunit M2 B levels | 4e-77 | rs16869295 | 2 | GCST90249272 | no MR -> candidate analysis |
| Circulating RRM2B levels | 2e-54 | rs1037699 | 2 | GCST90860320 | no MR -> candidate analysis |
| Serum levels of protein RRM2B | 7e-46 | rs78020802 | 2 | GCST90090386 | no MR -> candidate analysis |
| Blood protein levels | 7e-31 | rs28928597 | 2 | GCST006585 | no MR -> candidate analysis |
| Mean corpuscular volume | 3e-15 | rs2290707 | 1 | GCST006011 | no MR -> candidate analysis |
| Ribonucleoside-diphosphate reductase subunit M2 B (analyte X | 2e-13 | rs11778107 | 1 | GCST90427546 | no MR -> candidate analysis |
| Red blood cell count | 2e-12 | rs28999676 | 3 | GCST90002363 | MR: beta=-0.0163, p=0.218 (cis) |
| Mean corpuscular hemoglobin | 5e-12 | rs2290707 | 2 | GCST90018744 | no MR -> candidate analysis |
| Ribonucleoside-diphosphate reductase subunit M2 B levels (RR | 1e-11 | rs74589258 | 1 | GCST90242672 | no MR -> candidate analysis |
| …and 6 more traits (see JSON) |
Top diseases by Open Targets association (of 1451 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 |
|---|---|---|---|---|
| mitochondrial DNA depletion syndrome 8a | 0.938 | — | established (curated) | no MR -> candidate analysis |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy | 0.868 | — | established (curated) | no MR -> candidate analysis |
| mitochondrial dna depletion syndrome 8b (mngie type) | 0.745 | — | established (curated) | no MR -> candidate analysis |
| progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 0.902 | — | established (curated) | no MR -> candidate analysis |
| rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | 0.827 | — | established (curated) | no MR -> candidate analysis |
| mitochondrial DNA depletion syndrome, encephalomyopathic form | 0.608 | — | established (curated) | no MR -> candidate analysis |
| autosomal dominant progressive external ophthalmoplegia | 0.608 | — | established (curated) | no MR -> candidate analysis |
| mitochondrial neurogastrointestinal encephalomyopathy | 0.76 | — | established (curated) | no MR -> candidate analysis |
| adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | 0.608 | — | established (curated) | no MR -> candidate analysis |
| mitochondrial disease | 0.684 | — | established (curated) | 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 | 1 known modulators (Ribonucleotide reductase) |
| gnomAD constraint | pLI=0.09, LOEUF=0.634 — LoF-tolerant |
| GWAS Catalog | 37 unique SNPs / 74 rows |
| ClinVar | 516 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | 1 clinical annotations across 2 drugs |
phenome — Top 30 of 1451 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 ‘RRM2B’ and resolved to ‘Ribonucleotide reductase’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 516 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 18 of 18 traits by best p-value, aggregated from 25 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/Q7LG56 — 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/ENSG00000048392/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3301398/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/RRM2B — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/RRM2B — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=RRM2B%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=RRM2B — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/RRM2B — GWAS Catalog search API (live; release not exposed)