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 |
|---|---|---|---|---|---|---|---|
| Alzheimer’s disease | -0.0463 | 0.0288 | 0.108 | Wald ratio | 1 | trans | NA |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
12 association rows across 9 traits (8 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 |
|---|---|---|---|---|---|
| Cystatin C plasma levels | 1e-308 | rs2273378 | 1 | GCST90100559 | no MR -> candidate analysis |
| Cystatin C levels | 7e-21 | rs2983288 | 4 | GCST90019504 | no MR -> candidate analysis |
| CST1 protein levels | 5e-20 | rs113118940 | 1 | GCST90468893 | no MR -> candidate analysis |
| CST3 protein levels | 7e-16 | rs112998431 | 1 | GCST90468894 | no MR -> candidate analysis |
| Alzheimer disease and age of onset | 1e-8 | rs113118940 | 1 | GCST003427 | no MR -> candidate analysis |
| Peripheral arterial disease (traffic-related air pollution i | 4e-7 | rs2073300 | 1 | GCST004482 | no MR -> candidate analysis |
| S.aureus induced IL-6 level | 4e-7 | rs6114143 | 1 | GCST90308635 | no MR -> candidate analysis |
| Thrombomodulin levels in ischemic stroke | 1e-6 | rs238670 | 1 | GCST003234 | no MR -> candidate analysis |
| High-sensitivity cardiac troponin I concentration | 1e-6 | rs3004116 | 1 | GCST90095177 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 148 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 |
|---|---|---|---|---|
| alcohol drinking | 0.447 | — | common-variant locus | no MR -> candidate analysis |
| alopecia areata | 0.196 | — | common-variant locus | no MR -> candidate analysis |
Of the 2 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=4.1e-10, LOEUF=2.47 — LoF-tolerant |
| GWAS Catalog | 44 unique SNPs / 83 rows |
| ClinVar | 57 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 148 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 ‘CST8’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 57 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 9 of 9 traits by best p-value, aggregated from 12 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/O60676 — 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/ENSG00000125815/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CST8 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CST8 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CST8%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CST8 — GWAS Catalog search API (live; release not exposed)