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 |
|---|---|---|---|---|---|---|---|
| HDL cholesterol | 0.149 | 0.02 | 1.04e-13 | Wald ratio | 1 | trans | 1 |
| Total cholesterol | 0.0775 | 0.021 | 2.31e-04 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: K35 Acute appendicitis | 0.428 | 0.134 | 0.00136 | Wald ratio | 1 | trans | NA |
| Heel bone mineral density (BMD) T-score automated | -0.0578 | 0.0181 | 0.00143 | Wald ratio | 1 | trans | NA |
| Triglycerides | -0.0606 | 0.0195 | 0.0019 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: I48 Atrial fibrillation and flutter | 0.305 | 0.0988 | 0.00203 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: psoriasis | 0.291 | 0.0996 | 0.00347 | Wald ratio | 1 | trans | NA |
| Glioma | 0.741 | 0.254 | 0.00355 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: asthma | 0.0952 | 0.0357 | 0.00761 | Wald ratio | 1 | trans | NA |
| Cigarettes smoked per day | 1.29 | 0.488 | 0.00846 | Wald ratio | 1 | trans | NA |
| LDL cholesterol | 0.0549 | 0.0216 | 0.0108 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: ankylosing spondylitis | 0.439 | 0.177 | 0.0133 | Wald ratio | 1 | trans | NA |
| …and 93 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
32 association rows across 30 traits (20 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 ACAN levels | 1e-53 | rs895734 | 2 | GCST90860590 | no MR -> candidate analysis |
| ACAN protein levels | 1e-47 | rs895734 | 1 | GCST90468196 | no MR -> candidate analysis |
| PRR4 protein levels | 1e-13 | rs10838503 | 1 | GCST90470338 | no MR -> candidate analysis |
| Hypertrophic cardiomyopathy (sarcomere positive) | 7e-12 | rs74605438 | 1 | GCST012100 | no MR -> candidate analysis |
| Corneal resistance factor (MTAG) | 4e-11 | rs4472909 | 1 | GCST90102517 | no MR -> candidate analysis |
| Refractive error | 1e-10 | rs55681357 | 2 | GCST010002 | no MR -> candidate analysis |
| Body mass index (MTAG) | 1e-9 | rs145082340 | 1 | GCST90179150 | no MR -> candidate analysis |
| Body mass index | 2e-9 | rs117276117 | 1 | GCST90301650 | MR: beta=0.0205, p=0.142 (trans) |
| Urate levels | 3e-9 | rs141208451 | 1 | GCST004211 | no MR -> candidate analysis |
| Peak insulin response | 4e-9 | rs10577852 | 1 | GCST004487 | no MR -> candidate analysis |
| Acute insulin response | 4e-9 | rs10577852 | 1 | GCST004575 | no MR -> candidate analysis |
| Gut microbiota abundance (genus Ruminococcus1 id.11373) | 5e-9 | rs10769159 | 1 | GCST90017062 | no MR -> candidate analysis |
| …and 18 more traits (see JSON) |
Top diseases by Open Targets association (of 72 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 |
|---|---|---|---|---|
| hypertrophic cardiomyopathy | 0.555 | — | common-variant locus | MR: beta=0.755, p=0.315 (trans) |
| autoimmune thyroid disease | 0.529 | — | common-variant locus | no MR -> candidate analysis |
| venous thromboembolism | 0.463 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of refraction | 0.44 | — | common-variant locus | no MR -> candidate analysis |
| pulmonary vascular congestion | 0.387 | — | common-variant locus | no MR -> candidate analysis |
| ovarian dysfunction | 0.354 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis, hip | 0.339 | — | common-variant locus | MR: beta=-0.152, p=0.362 (trans) |
| medical procedure | 0.339 | — | common-variant locus | no MR -> candidate analysis |
| thrombophilia | 0.339 | — | common-variant locus | no MR -> candidate analysis |
| Thromboembolism | 0.233 | — | common-variant locus | no MR -> candidate analysis |
| systolic heart failure | 0.177 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.167 | — | common-variant locus | no MR -> candidate analysis |
| obesity disorder | 0.136 | — | common-variant locus | no MR -> candidate analysis |
| hypertensive disorder | 0.116 | — | common-variant locus | no MR -> candidate analysis |
| insomnia | 0.104 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 13 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=0.15, LOEUF=0.754 — LoF-tolerant |
| GWAS Catalog | 73 unique SNPs / 101 rows |
| ClinVar | 59 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | 1 clinical annotations across 1 drugs |
phenome — Top 30 of 72 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 ‘CHST1’.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.gwas_traits — Top 20 of 30 traits by best p-value, aggregated from 32 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/O43916 — 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/ENSG00000175264/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CHST1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CHST1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CHST1%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=CHST1 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/CHST1 — GWAS Catalog search API (live; release not exposed)