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 |
|---|---|---|---|---|---|---|---|
| Non-cancer illness code self-reported: mania or bipolar disorder or manic depression | 0.384 | 0.105 | 2.56e-04 | Wald ratio | 1 | cis | NA |
| Cardioembolic stroke | 0.321 | 0.0976 | 9.94e-04 | Wald ratio | 1 | cis | NA |
| Cough on most days | -0.133 | 0.0455 | 0.00347 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: S76 Injury of muscle and tendon at hip and thigh level | 0.582 | 0.218 | 0.0076 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M54 Dorsalgia | -0.187 | 0.0731 | 0.0107 | Wald ratio | 1 | cis | NA |
| Age at menopause | 0.15 | 0.06 | 0.0124 | Wald ratio | 1 | cis | NA |
| Serum cystatin C (eGFRcys) | -0.0132 | 0.0057 | 0.0206 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: bladder problem (not cancer) | -0.289 | 0.139 | 0.0381 | Wald ratio | 1 | cis | NA |
| HOMA-IR | -0.0255 | 0.0129 | 0.0481 | Wald ratio | 1 | cis | NA |
| Cancer code self-reported: malignant melanoma | 0.149 | 0.0764 | 0.0518 | Wald ratio | 1 | cis | NA |
| Diastolic blood pressure automated reading | -0.0151 | 0.00795 | 0.0572 | Wald ratio | 1 | cis | NA |
| Sleep duration | -0.0115 | 0.00606 | 0.0576 | Wald ratio | 1 | cis | NA |
| …and 79 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
52 association rows across 35 traits (38 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 |
|---|---|---|---|---|---|
| Carbohydrate sulfotransferase 9 levels | 3e-113 | rs56348115 | 4 | GCST90247028 | no MR -> candidate analysis |
| Circulating PLAU levels (id: OID00481_OID21124) | 8e-75 | rs9948409 | 2 | GCST90859841 | no MR -> candidate analysis |
| Circulating PLAU levels (id: OID00631_OID21124) | 5e-65 | rs9948409 | 2 | GCST90859976 | no MR -> candidate analysis |
| PLAU protein levels | 7e-61 | rs8088724 | 2 | GCST90470252 | no MR -> candidate analysis |
| Klotho levels | 1e-46 | rs78629350 | 1 | GCST90248208 | no MR -> candidate analysis |
| Serum levels of protein CHST9 | 1e-41 | rs9967454 | 2 | GCST90086834 | no MR -> candidate analysis |
| Carbohydrate sulfotransferase 9 levels (CHST9.11646.4.3) | 7e-37 | rs9952639 | 1 | GCST90240583 | no MR -> candidate analysis |
| Blood protein levels | 2e-27 | rs7233634 | 1 | GCST006585 | no MR -> candidate analysis |
| Circulating plasma alpha-Klotho levels | 2e-27 | rs12607664 | 1 | GCST90091246 | no MR -> candidate analysis |
| NEDD4-binding protein 2-like 2 levels | 2e-18 | rs1352037 | 1 | GCST90424433 | no MR -> candidate analysis |
| Breast cancer | 8e-18 | rs2307561 | 9 | GCST004988 | MR: beta=-0.0594, p=0.105 (cis) |
| KLK15 protein levels | 2e-17 | rs770071925 | 1 | GCST90469701 | no MR -> candidate analysis |
| …and 23 more traits (see JSON) |
Top diseases by Open Targets association (of 89 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 |
|---|---|---|---|---|
| breast carcinoma | 0.587 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.6 | — | common-variant locus | no MR -> candidate analysis |
| generalized anxiety disorder | 0.524 | — | common-variant locus | no MR -> candidate analysis |
| stroke disorder | 0.51 | — | common-variant locus | no MR -> candidate analysis |
| cervical carcinoma | 0.482 | — | common-variant locus | no MR -> candidate analysis |
| smoking initiation | 0.479 | — | common-variant locus | no MR -> candidate analysis |
| placental retention | 0.476 | — | common-variant locus | no MR -> candidate analysis |
| response to radiation | 0.431 | — | common-variant locus | no MR -> candidate analysis |
| diabetes mellitus | 0.418 | — | common-variant locus | no MR -> candidate analysis |
| type 1 diabetes mellitus | 0.396 | — | common-variant locus | no MR -> candidate analysis |
| post term pregnancy | 0.356 | — | common-variant locus | no MR -> candidate analysis |
| Abnormal nasolacrimal system morphology | 0.346 | — | common-variant locus | no MR -> candidate analysis |
| ovarian neoplasm | 0.316 | — | common-variant locus | no MR -> candidate analysis |
| luminal A breast carcinoma | 0.31 | — | common-variant locus | no MR -> candidate analysis |
| protozoa infectious disease | 0.308 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 15 have no MR estimate in this resource. Across all retrieved diseases for this gene: 1 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=1.6e-13, LOEUF=1.2 — LoF-tolerant |
| GWAS Catalog | 63 unique SNPs / 126 rows |
| ClinVar | 118 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 89 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 ‘CHST9’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 118 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 20 of 35 traits by best p-value, aggregated from 52 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/Q7L1S5 — 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/ENSG00000154080/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CHST9 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CHST9 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CHST9%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CHST9 — GWAS Catalog search API (live; release not exposed)