CausalSentinel

Protein Dossier — OSBPL11 (Oxysterol-binding protein-related protein 11)

MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).

1. Published MR estimates (retrieved, not computed)

Outcome beta se p method nSNP cis/trans coloc
Non-cancer illness code self-reported: muscle or soft tissue injuries 0.348 0.119 0.00356 Wald ratio 1 trans NA
Sodium in urine 0.0333 0.0138 0.0161 Wald ratio 1 trans NA
Systolic blood pressure automated reading 0.033 0.0144 0.0222 Wald ratio 1 trans NA
Clear cell ovarian cancer 0.5 0.231 0.0302 Wald ratio 1 trans NA
Diagnoses - main ICD10: M23 Internal derangement of knee -0.261 0.125 0.037 Wald ratio 1 trans NA
Cigarettes smoked per day 1.93 0.953 0.0432 Wald ratio 1 trans NA
Autism 0.393 0.21 0.0619 Wald ratio 1 trans NA
Endometrioid ovarian cancer 0.314 0.171 0.0654 Wald ratio 1 trans NA
Birth weight -0.0465 0.0255 0.0686 Wald ratio 1 trans NA
Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] -0.288 0.161 0.0739 Wald ratio 1 trans NA
Hearing difficulty or problems: Yes -0.0391 0.0252 0.121 Wald ratio 1 trans NA
Diagnoses - main ICD10: N81 Female genital prolapse -0.231 0.152 0.129 Wald ratio 1 trans NA
…and 43 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).

3. GWAS Catalog results — traits with signal at this locus

14 association rows across 9 traits (6 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
Severe COVID-19 infection 1e-16 rs2979382 2 GCST90255357 no MR -> candidate analysis
Neurofibrillary tangles (SNP x SNP interaction) 3e-13 rs4899207 x rs2979307 1 GCST010343 no MR -> candidate analysis
Height 2e-12 rs529963700 1 GCST90018959 no MR -> candidate analysis
Core binding factor acute myeloid leukemia 2e-10 rs11717181; rs6799729; rs2979312; rs10755079; rs6784346; rs17273670; rs13058844; rs9968159; rs2001665; rs2979322; rs2976720; rs2979342; rs2971306 2 GCST008413 no MR -> candidate analysis
Body mass index 2e-8 rs143348557 2 GCST90662912 MR: beta=0.0205, p=0.144 (trans)
Gut microbial network clusters (Tan (at 3 months) x Summer B 6e-8 rs11717250 1 GCST90569246 no MR -> candidate analysis
Astrocytoma (high-grade) 4e-7 rs192322845 2 GCST90296468 no MR -> candidate analysis
Glioma (high-grade) 6e-7 rs184687927 2 GCST90296475 no MR -> candidate analysis
Hair curvature (quantitative) 3e-6 rs62270208 1 GCST011641 no MR -> candidate analysis

4. Phenome map — where this gene is a genetic locus, vs. where MR exists

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
severe acute respiratory syndrome 0.481 common-variant locus no MR -> candidate analysis
COVID-19 0.481 common-variant locus no MR -> candidate analysis
ovarian neoplasm 0.284 common-variant locus no MR -> candidate analysis
circadian rhythm sleep disorder 0.279 common-variant locus no MR -> candidate analysis
seborrheic keratosis 0.091 common-variant locus no MR -> candidate analysis
bone remodeling disease 0.056 common-variant locus no MR -> candidate analysis

Of the 6 rows above, 6 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.

5. Downstream annotation (druggability & safety preview)

Layer Result
ChEMBL druggability not available — no ChEMBL target (undrugged)
gnomAD constraint pLI=0.72, LOEUF=0.523 — LoF-tolerant
GWAS Catalog 33 unique SNPs / 66 rows
ClinVar 128 records; 1 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance