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: D25 Leiomyoma of uterus | 0.196 | 0.0738 | 0.00786 | Wald ratio | 1 | cis | NA |
| Cancer code self-reported: basal cell carcinoma | 0.216 | 0.0858 | 0.0118 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K29 Gastritis and duodenitis | 0.117 | 0.0585 | 0.0454 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: enlarged prostate | 0.147 | 0.0752 | 0.0511 | Wald ratio | 1 | cis | NA |
| Myocardial infarction | 0.086 | 0.0446 | 0.0539 | Wald ratio | 1 | cis | NA |
| High grade serous ovarian cancer | -0.135 | 0.071 | 0.057 | Wald ratio | 1 | cis | NA |
| Happiness | -0.0234 | 0.0125 | 0.061 | Wald ratio | 1 | cis | NA |
| Body mass index (BMI) | -0.0187 | 0.0101 | 0.0646 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K44 Diaphragmatic hernia | 0.13 | 0.0715 | 0.069 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Glaucoma | 0.126 | 0.0748 | 0.0917 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M23 Internal derangement of knee | -0.132 | 0.0782 | 0.0918 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N20 Calculus of kidney and ureter | 0.173 | 0.103 | 0.0922 | Wald ratio | 1 | cis | NA |
| …and 57 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
5 association rows across 5 traits (2 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 |
|---|---|---|---|---|---|
| Rieske domain-containing protein levels (RFESD.13603.7.3) | 2e-25 | rs77881626 | 1 | GCST90242681 | no MR -> candidate analysis |
| Alanine aminotransferase level after methotrexate initiation | 3e-8 | rs72783407 | 1 | GCST90244104 | no MR -> candidate analysis |
| Pharmacokinetics of antiepileptic drugs in severe mental dis | 2e-7 | rs17790731 | 1 | GCST002887 | no MR -> candidate analysis |
| Familial squamous cell lung carcinoma | 6e-6 | rs115593965 | 1 | GCST006088 | no MR -> candidate analysis |
| Ischemic stroke (cardioembolic) | 7e-6 | rs72781498 | 1 | GCST90020242 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 12 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 |
|---|---|---|---|---|
| vitiligo | 0.46 | — | common-variant locus | MR: beta=0.504, p=0.28 (cis) |
| alcohol drinking | 0.249 | — | common-variant locus | no MR -> candidate analysis |
| seasonal allergic rhinitis | 0.249 | — | common-variant locus | no MR -> candidate analysis |
| placental abruption | 0.042 | — | common-variant locus | no MR -> candidate analysis |
| infectious disease | 0.036 | — | common-variant locus | no MR -> candidate analysis |
Of the 5 rows above, 4 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=0.00028, LOEUF=0.997 — LoF-tolerant |
| GWAS Catalog | 17 unique SNPs / 33 rows |
| ClinVar | 59 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 12 of 12 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 ‘RFESD’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 59 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 5 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/Q8TAC1 — 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/ENSG00000175449/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/RFESD — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/RFESD — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=RFESD%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/RFESD — GWAS Catalog search API (live; release not exposed)