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 |
|---|---|---|---|---|---|---|---|
| Alcohol intake frequency | -0.0509 | 0.0182 | 0.00527 | Wald ratio | 1 | trans | NA |
| Depressive symptoms | -0.048 | 0.0192 | 0.0124 | Wald ratio | 1 | trans | NA |
| Glioma | 0.556 | 0.224 | 0.013 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal | 0.208 | 0.0853 | 0.0147 | Wald ratio | 1 | trans | NA |
| Cardioembolic stroke | 0.384 | 0.162 | 0.0176 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: arthritis (nos) | 0.256 | 0.112 | 0.0215 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms | 0.175 | 0.085 | 0.0393 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: hypertension | -0.0452 | 0.022 | 0.0402 | Wald ratio | 1 | trans | NA |
| Heel bone mineral density (BMD) T-score automated | -0.031 | 0.016 | 0.0521 | Wald ratio | 1 | trans | NA |
| Height | -0.0283 | 0.0149 | 0.057 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: asthma | -0.0678 | 0.037 | 0.067 | Wald ratio | 1 | trans | NA |
| Mean cell volume | -0.238 | 0.13 | 0.0672 | Wald ratio | 1 | trans | NA |
| …and 91 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
9 association rows across 5 traits (7 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 |
|---|---|---|---|---|---|
| Mean corpuscular hemoglobin | 8e-14 | rs28791905 | 5 | GCST90002326 | no MR -> candidate analysis |
| Mean corpuscular volume | 1e-11 | rs74277390 | 1 | GCST90002392 | no MR -> candidate analysis |
| Free Cholesterol to Cholesteryl Esters in Large HDL ratio | 2e-9 | rs145925439 | 1 | GCST90827800 | no MR -> candidate analysis |
| Tuberculosis | 2e-6 | rs75764086 | 1 | GCST90275070 | no MR -> candidate analysis |
| Tenofovir clearance in HIV infection | 6e-6 | rs17562912 | 1 | GCST006073 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 36 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 |
|---|---|---|---|---|
| Nasal polyposis | 0.401 | — | common-variant locus | no MR -> candidate analysis |
| bipolar disorder | 0.054 | — | common-variant locus | MR: beta=0.167, p=0.162 (trans) |
| Loss of consciousness | 0.043 | — | common-variant locus | no MR -> candidate analysis |
| deficiency anemia | 0.043 | — | common-variant locus | no MR -> candidate analysis |
| Phenotypic abnormality | 0.038 | — | common-variant locus | no MR -> candidate analysis |
| hyperaldosteronism | 0.035 | — | common-variant locus | no MR -> candidate analysis |
Of the 6 rows above, 5 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 | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=1, LOEUF=0.415 — LoF-INTOLERANT |
| GWAS Catalog | 19 unique SNPs / 38 rows |
| ClinVar | 86 records; 6 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 36 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — No ChEMBL target for ‘RPRD1A’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 86 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 5 of 5 traits by best p-value, aggregated from 9 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/Q96P16 — 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/ENSG00000141425/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/RPRD1A — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/RPRD1A — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=RPRD1A%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/RPRD1A — GWAS Catalog search API (live; release not exposed)