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 |
|---|---|---|---|---|---|---|---|
| Diastolic blood pressure automated reading | -0.076 | 0.0175 | 1.45e-05 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: emphysema or chronic bronchitis | 0.387 | 0.102 | 1.45e-04 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: J33 Nasal polyp | 0.404 | 0.172 | 0.0187 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb | 0.241 | 0.104 | 0.0202 | Wald ratio | 1 | cis | NA |
| Systolic blood pressure automated reading | -0.039 | 0.0175 | 0.0262 | Wald ratio | 1 | cis | NA |
| Intracranial volume | -3.7e+04 | 1.7e+04 | 0.029 | Wald ratio | 1 | cis | NA |
| Vascular or heart problems diagnosed by doctor: Angina | 0.171 | 0.0815 | 0.036 | Wald ratio | 1 | cis | NA |
| Weight | -0.0309 | 0.0151 | 0.041 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: B37 Candidiasis | 0.857 | 0.42 | 0.0413 | Wald ratio | 1 | cis | NA |
| Cigarettes smoked per day | 1.25 | 0.622 | 0.044 | Wald ratio | 1 | cis | NA |
| Forced expiratory volume in 1-second (FEV1) | -0.0294 | 0.0148 | 0.0468 | Wald ratio | 1 | cis | NA |
| Putamen volume | 98.3 | 51.6 | 0.0568 | Wald ratio | 1 | cis | NA |
| …and 73 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
18 association rows across 15 traits (10 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 |
|---|---|---|---|---|---|
| Height | 9e-66 | rs1901460 | 2 | GCST90245848 | MR: beta=-0.0242, p=0.249 (cis) |
| UXS1 protein levels | 7e-55 | rs138588539 | 2 | GCST90471023 | no MR -> candidate analysis |
| UDP-glucuronic acid decarboxylase 1 levels | 2e-21 | rs76465958 | 1 | GCST90250143 | no MR -> candidate analysis |
| Serum levels of protein UXS1 | 1e-16 | rs1442566 | 1 | GCST90090085 | no MR -> candidate analysis |
| Body shape phenotype PC2 | 2e-13 | rs34795949 | 1 | GCST90832990 | no MR -> candidate analysis |
| Hip circumference adjusted for BMI | 8e-11 | rs4417735 | 1 | GCST90020028 | no MR -> candidate analysis |
| Blood protein levels | 2e-9 | rs12617748 | 1 | GCST006585 | no MR -> candidate analysis |
| Protein quantitative trait loci (liver) | 6e-9 | rs116283703 | 1 | GCST011427 | no MR -> candidate analysis |
| Heart failure progression (time to cardiovascular mortality | 5e-8 | rs148293207 | 1 | GCST90827693 | no MR -> candidate analysis |
| Glioblastoma | 2e-7 | rs74770020 | 2 | GCST90296471 | no MR -> candidate analysis |
| Pursuit maintenance gain in psychotic disorders | 3e-7 | rs6738485 | 1 | GCST005028 | no MR -> candidate analysis |
| Pursuit maintenance gain | 4e-7 | rs6738485 | 1 | GCST005024 | no MR -> candidate analysis |
| …and 3 more traits (see JSON) |
Top diseases by Open Targets association (of 347 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 |
|---|---|---|---|---|
| placental retention | 0.478 | — | common-variant locus | no MR -> candidate analysis |
| aortic disorder | 0.452 | — | common-variant locus | no MR -> candidate analysis |
| Shock | 0.446 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.441 | — | common-variant locus | no MR -> candidate analysis |
| secondary malignant neoplasm | 0.4 | — | common-variant locus | no MR -> candidate analysis |
| migraine with aura | 0.333 | — | common-variant locus | no MR -> candidate analysis |
| hematologic disorder | 0.272 | — | common-variant locus | no MR -> candidate analysis |
| cataract | 0.207 | — | common-variant locus | MR: beta=0.132, p=0.11 (cis) |
| cervical carcinoma | 0.198 | — | common-variant locus | no MR -> candidate analysis |
| carpal tunnel syndrome | 0.156 | — | common-variant locus | no MR -> candidate analysis |
| oral cavity neoplasm | 0.119 | — | common-variant locus | no MR -> candidate analysis |
Of the 11 rows above, 10 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=5.1e-05, LOEUF=0.704 — LoF-tolerant |
| GWAS Catalog | 42 unique SNPs / 84 rows |
| ClinVar | 106 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 347 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 ‘UXS1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 106 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 15 of 15 traits by best p-value, aggregated from 18 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/Q8NBZ7 — 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/ENSG00000115652/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/UXS1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/UXS1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=UXS1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/UXS1 — GWAS Catalog search API (live; release not exposed)