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: hypertension | -0.0478 | 0.0129 | 2.24e-04 | Wald ratio | 1 | cis | NA |
| Body mass index (BMI) | -0.0212 | 0.00724 | 0.00342 | Wald ratio | 1 | cis | NA |
| Alzheimer’s disease | 0.132 | 0.0486 | 0.00676 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Glaucoma | 0.137 | 0.0528 | 0.00936 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K44 Diaphragmatic hernia | 0.131 | 0.051 | 0.0105 | Wald ratio | 1 | cis | NA |
| Caudate volume | -38.9 | 15.5 | 0.0122 | Wald ratio | 1 | cis | NA |
| Weight | -0.0153 | 0.00639 | 0.0165 | Wald ratio | 1 | cis | NA |
| Putamen volume | -44.7 | 19.1 | 0.0195 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) | 0.107 | 0.0462 | 0.0212 | Wald ratio | 1 | cis | NA |
| Amyotrophic lateral sclerosis | -0.122 | 0.0542 | 0.0244 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: mania or bipolar disorder or manic depression | 0.245 | 0.113 | 0.03 | Wald ratio | 1 | cis | NA |
| Invasive mucinous ovarian cancer | 0.239 | 0.121 | 0.0477 | Wald ratio | 1 | cis | NA |
| …and 68 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
32 association rows across 19 traits (27 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 HSPB1 levels | 7e-1848 | rs2868371 | 1 | GCST90859826 | no MR -> candidate analysis |
| Heat shock 27 kDa protein levels | 1e-553 | rs2868371 | 2 | GCST90012028 | no MR -> candidate analysis |
| Heat shock protein beta-1 levels | 7e-553 | rs2908203 | 5 | GCST90247943 | no MR -> candidate analysis |
| HSPB1 protein levels | 2e-153 | rs2908203 | 7 | GCST90453114 | no MR -> candidate analysis |
| A0A6Q8PFK8;HSPB1 protein level (protein group normalized int | 1e-26 | rs2908203 | 1 | GCST90570781 | no MR -> candidate analysis |
| Serum levels of protein HSPB1 | 7e-25 | rs2908203 | 1 | GCST90086539 | no MR -> candidate analysis |
| ZP3 protein levels | 4e-24 | rs111362096 | 2 | GCST90471105 | no MR -> candidate analysis |
| CCL24 protein levels | 2e-22 | rs77586767 | 2 | GCST90468576 | no MR -> candidate analysis |
| Blood protein levels | 2e-16 | rs2868371 | 1 | GCST006585 | no MR -> candidate analysis |
| Plexin-A1 protein levels (SomaScan ID:11103-24) | 3e-15 | rs28584236 | 1 | GCST90438260 | no MR -> candidate analysis |
| Circulating CCL24 levels | 7e-13 | rs111515579 | 1 | GCST90859940 | no MR -> candidate analysis |
| Ventral frontal thickness | 5e-9 | rs2903813 | 1 | GCST90572712 | no MR -> candidate analysis |
| …and 7 more traits (see JSON) |
Top diseases by Open Targets association (of 630 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 |
|---|---|---|---|---|
| neuronopathy, distal hereditary motor, type 2B | 0.957 | — | established (curated) | no MR -> candidate analysis |
| Charcot-Marie-Tooth disease axonal type 2F | 0.931 | — | established (curated) | no MR -> candidate analysis |
| Autosomal dominant Charcot-Marie-Tooth disease type 2F | 0.847 | — | established (curated) | no MR -> candidate analysis |
| Charcot-Marie-Tooth disease | 0.872 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.837 | — | established (curated) | no MR -> candidate analysis |
| distal hereditary motor neuropathy type 2 | 0.598 | — | established (curated) | no MR -> candidate analysis |
| distal hereditary motor neuropathy | 0.559 | — | established (curated) | no MR -> candidate analysis |
| Charcot-Marie-Tooth disease type 4 | 0.228 | — | established (curated) | no MR -> candidate analysis |
| hereditary peripheral neuropathy | 0.195 | — | established (curated) | no MR -> candidate analysis |
Of the 9 rows above, 9 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 | 0 known modulators (Heat shock protein beta-1) |
| gnomAD constraint | pLI=7.8e-08, LOEUF=1.64 — LoF-tolerant |
| GWAS Catalog | 75 unique SNPs / 150 rows |
| ClinVar | 471 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 630 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘HSPB1’ and resolved to ‘Heat shock protein beta-1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 471 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 19 of 19 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/P04792 — 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/ENSG00000106211/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5976/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/HSPB1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/HSPB1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=HSPB1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/HSPB1 — GWAS Catalog search API (live; release not exposed)