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 |
|---|---|---|---|---|---|---|---|
| Cancer code self-reported: prostate cancer | 0.29 | 0.127 | 0.0225 | Wald ratio | 1 | trans | NA |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
29 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 |
|---|---|---|---|---|---|
| Circulating ERBB3 levels | 2e-85 | rs2629411 | 1 | GCST90860027 | no MR -> candidate analysis |
| Circulating NOTCH3 levels | 7e-36 | rs2279373 | 1 | GCST90859932 | no MR -> candidate analysis |
| Headache or migraine | 2e-21 | rs4759042 | 2 | GCST90267554 | no MR -> candidate analysis |
| Mean platelet thrombocyte volume (UKB data field 30100) | 6e-20 | rs28470625 | 1 | GCST90468087 | no MR -> candidate analysis |
| Circulating EBI3_IL27 levels | 2e-19 | rs2279373 | 2 | GCST90859764 | no MR -> candidate analysis |
| Free androgen index | 4e-17 | rs34138930 | 1 | GCST90239823 | no MR -> candidate analysis |
| Free testosterone levels | 2e-16 | rs34138930 | 2 | GCST90239825 | no MR -> candidate analysis |
| Bioavailable testosterone levels | 4e-15 | rs34138930 | 3 | GCST90012103 | no MR -> candidate analysis |
| Insomnia | 2e-12 | rs1098740 | 3 | GCST90131901 | no MR -> candidate analysis |
| Heel bone mineral density | 1e-11 | rs2279743 | 4 | GCST006288 | no MR -> candidate analysis |
| Respiratory diseases | 2e-9 | rs10506346 | 1 | GCST007076 | no MR -> candidate analysis |
| Gut microbial network clusters (Pink (at 1 year) x Any Breas | 1e-8 | rs61939617 | 1 | GCST90569309 | no MR -> candidate analysis |
| …and 6 more traits (see JSON) |
Top diseases by Open Targets association (of 105 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 |
|---|---|---|---|---|
| asthma | 0.282 | — | common-variant locus | no MR -> candidate analysis |
Of the 1 rows above, 1 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=5.2e-10, LOEUF=1.56 — LoF-tolerant |
| GWAS Catalog | 65 unique SNPs / 130 rows |
| ClinVar | 83 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 105 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 ‘RDH16’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 83 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 18 of 18 traits by best p-value, aggregated from 29 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/O75452 — 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/ENSG00000139547/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/RDH16 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/RDH16 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=RDH16%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/RDH16 — GWAS Catalog search API (live; release not exposed)