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 |
|---|---|---|---|---|---|---|---|
| Diagnoses - main ICD10: N81 Female genital prolapse | 0.306 | 0.0908 | 7.60e-04 | Wald ratio | 1 | trans | NA |
| Hirschsprung’s disease | -1.12 | 0.406 | 0.00557 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms | 0.229 | 0.0955 | 0.0164 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: R04 Haemorrhage from respiratory passages | 0.347 | 0.147 | 0.0185 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: arthritis (nos) | 0.297 | 0.127 | 0.0199 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: K43 Ventral hernia | 0.327 | 0.163 | 0.0447 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: R14 Flatulence and related conditions | 0.685 | 0.353 | 0.0524 | Wald ratio | 1 | trans | NA |
| Fractured or broken bones in last 5 years | 0.0798 | 0.0421 | 0.0584 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: high cholesterol | -0.0804 | 0.0429 | 0.0609 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: emphysema or chronic bronchitis | 0.191 | 0.106 | 0.0716 | Wald ratio | 1 | trans | NA |
| Fractured bone site(s): Other bones | 0.101 | 0.0576 | 0.0792 | Wald ratio | 1 | trans | NA |
| Neuroticism | 0.0459 | 0.0266 | 0.0841 | Wald ratio | 1 | trans | NA |
| …and 45 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
7 association rows across 7 traits (3 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 |
|---|---|---|---|---|---|
| LRRTM2 protein levels | 1e-8 | rs10183742 | 1 | GCST90453017 | no MR -> candidate analysis |
| Protein quantitative trait loci (liver) | 3e-8 | rs79140613 | 1 | GCST011427 | no MR -> candidate analysis |
| Circulating OPTC levels | 4e-8 | rs75197437 | 1 | GCST90860578 | no MR -> candidate analysis |
| Colonoscopy-negative controls vs population controls | 2e-6 | rs34965331 | 1 | GCST005147 | no MR -> candidate analysis |
| COVID-19 (severe vs population) x cardiometabolic health sta | 2e-6 | rs192911167 | 1 | GCST90102532 | no MR -> candidate analysis |
| Acesulfame levels in elite athletes | 6e-6 | rs1165703 | 1 | GCST90134191 | no MR -> candidate analysis |
| COVID-19 (severe vs population) x cardiometabolic health sta | 6e-6 | rs192911167 | 1 | GCST90102531 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 147 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 |
|---|---|---|---|---|
| ribose-5-P isomerase deficiency | 0.797 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.68 | — | established (curated) | no MR -> candidate analysis |
| non-melanoma skin carcinoma | 0.381 | — | common-variant locus | no MR -> candidate analysis |
| Hashimoto thyroiditis | 0.338 | — | common-variant locus | no MR -> candidate analysis |
| autoimmune disease | 0.334 | — | common-variant locus | no MR -> candidate analysis |
| skin neoplasm | 0.325 | — | common-variant locus | no MR -> candidate analysis |
| hypothyroidism | 0.307 | — | common-variant locus | no MR -> candidate analysis |
| immune system disorder | 0.29 | — | common-variant locus | no MR -> candidate analysis |
| cervical carcinoma | 0.262 | — | common-variant locus | no MR -> candidate analysis |
| skin cancer | 0.225 | — | common-variant locus | no MR -> candidate analysis |
| sarcoidosis | 0.194 | — | common-variant locus | no MR -> candidate analysis |
| basal cell carcinoma | 0.168 | — | common-variant locus | no MR -> candidate analysis |
| respiratory system disorder | 0.145 | — | common-variant locus | no MR -> candidate analysis |
| skin disorder | 0.145 | — | common-variant locus | no MR -> candidate analysis |
| thyroid gland disorder | 0.127 | — | 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 (Ribose-5-phosphate isomerase) |
| gnomAD constraint | pLI=2.5e-08, LOEUF=1.05 — LoF-tolerant |
| GWAS Catalog | 46 unique SNPs / 92 rows |
| ClinVar | 171 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 147 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 ‘RPIA’ and resolved to ‘Ribose-5-phosphate isomerase’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 171 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 7 of 7 traits by best p-value, aggregated from 7 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/P49247 — 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/ENSG00000153574/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5725137/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/RPIA — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/RPIA — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=RPIA%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/RPIA — GWAS Catalog search API (live; release not exposed)