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: N20 Calculus of kidney and ureter | 0.297 | 0.107 | 0.00535 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: pernicious anaemia | 0.387 | 0.153 | 0.0117 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: gout | -0.277 | 0.135 | 0.0398 | Wald ratio | 1 | trans | NA |
| Hirschsprung’s disease | 1.48 | 0.723 | 0.04 | Wald ratio | 1 | trans | NA |
| Body fat | 0.054 | 0.0266 | 0.042 | Wald ratio | 1 | trans | NA |
| Neo-neuroticism | -0.903 | 0.462 | 0.0504 | Wald ratio | 1 | trans | NA |
| Neo-agreeableness | 0.577 | 0.298 | 0.0526 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms | 0.154 | 0.0837 | 0.0658 | Wald ratio | 1 | trans | NA |
| Lung cancer | -0.166 | 0.0918 | 0.0701 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: hypertension | -0.0372 | 0.0211 | 0.0774 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: M72 Fibroblastic disorders | 0.231 | 0.131 | 0.0786 | Wald ratio | 1 | trans | NA |
| Large vessel disease | -0.29 | 0.169 | 0.0868 | Wald ratio | 1 | trans | NA |
| …and 98 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
No GWAS Catalog associations mapped to this gene.
Top diseases by Open Targets association (of 29 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 |
|---|---|---|---|---|
| ulcerative colitis | 0.371 | — | common-variant locus | MR: beta=0.054, p=0.399 (trans) |
| placenta praevia | 0.155 | — | common-variant locus | no MR -> candidate analysis |
| metabolic dysfunction-associated steatotic liver disease | 0.037 | — | common-variant locus | no MR -> candidate analysis |
Of the 3 rows above, 2 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=6.7e-11, LOEUF=1.49 — LoF-tolerant |
| GWAS Catalog | 5 unique SNPs / 10 rows |
| ClinVar | 75 records; 12 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 29 of 29 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 ‘C8orf33’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 75 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 — No GWAS Catalog associations mapped to this gene.uniprot: https://www.uniprot.org/uniprotkb/Q9H7E9 — 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/ENSG00000182307/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/C8orf33 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/C8orf33 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=C8orf33%5Bgene%5D — ClinVar build Build260809-1055.1