CausalSentinel

Protein Dossier — CBLN1 (Cerebellin-1)

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: arthritis (nos) 0.124 0.0334 2.11e-04 Wald ratio 1 cis NA
Diagnoses - main ICD10: B37 Candidiasis 0.355 0.111 0.00138 Wald ratio 1 cis NA
Fractured bone site(s): Wrist 0.0631 0.022 0.00408 Wald ratio 1 cis NA
Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms 0.0624 0.0251 0.0128 Wald ratio 1 cis NA
Pallidum volume 5.67 2.56 0.0267 Wald ratio 1 cis NA
Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) -0.0197 0.00935 0.035 Wald ratio 1 cis NA
Non-cancer illness code self-reported: pulmonary embolism (with or without) dvt -0.08 0.0394 0.0424 Wald ratio 1 cis NA
ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) -0.0329 0.0164 0.0449 Wald ratio 1 cis NA
Weight 0.0058 0.00289 0.0453 Wald ratio 1 cis NA
Non-cancer illness code self-reported: iron deficiency anaemia 0.0821 0.0414 0.0477 Wald ratio 1 cis NA
Endometrioid ovarian cancer 0.0809 0.041 0.0489 Wald ratio 1 cis NA
ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) -0.0214 0.011 0.0522 Wald ratio 1 cis NA
…and 70 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

12 association rows across 12 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
GLIPR1 protein levels 9e-12 rs146606540 1 GCST90469357 no MR -> candidate analysis
Ease of getting up in the morning 2e-11 rs1420607 1 GCST007986 no MR -> candidate analysis
Eczema 3e-11 rs41190 1 GCST007075 no MR -> candidate analysis
Neurofibrillary tangles (SNP x SNP interaction) 1e-9 rs1954455 x rs4785162 1 GCST010343 no MR -> candidate analysis
Allergic rhinitis 4e-9 rs12920150 1 GCST009719 MR: beta=-0.0219, p=0.112 (cis)
Body mass index 2e-8 rs3833063 1 GCST90255621 MR: beta=0.00593, p=0.0702 (cis)
AUC at steady-state of apixaban 2e-7 rs59884489 1 GCST90225999 no MR -> candidate analysis
Social autistic-like traits 2e-6 rs16946931 1 GCST002228 no MR -> candidate analysis
Cmin at steady-state of apixaban 2e-6 rs59884489 1 GCST90226001 no MR -> candidate analysis
CDCP1 levels 2e-6 rs4785279 1 GCST90503354 no MR -> candidate analysis
Chronic renal failure [CKD] (PheCode 585.3) 8e-6 rs565027569 1 GCST90651114 no MR -> candidate analysis
Cmax at steady-state of apixaban 8e-6 rs59884489 1 GCST90226000 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 972 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
alcohol drinking 0.591 common-variant locus no MR -> candidate analysis
obesity disorder 0.511 common-variant locus no MR -> candidate analysis
diabetes mellitus 0.44 common-variant locus no MR -> candidate analysis
type 2 diabetes mellitus 0.385 common-variant locus no MR -> candidate analysis
preeclampsia 0.248 common-variant locus no MR -> candidate analysis
cholelithiasis 0.249 common-variant locus no MR -> candidate analysis
allergic rhinitis 0.249 common-variant locus MR: beta=-0.0219, p=0.112 (cis)
deep vein thrombosis 0.234 common-variant locus no MR -> candidate analysis
Eczematoid dermatitis 0.228 common-variant locus no MR -> candidate analysis
Abnormality of the skeletal system 0.228 common-variant locus no MR -> candidate analysis
rhinitis 0.228 common-variant locus MR: beta=-0.0219, p=0.112 (cis)
type 1 diabetes mellitus 0.213 common-variant locus no MR -> candidate analysis
central nervous system infectious disorder 0.192 common-variant locus no MR -> candidate analysis
myeloid leukemia 0.178 common-variant locus no MR -> candidate analysis

Of the 14 rows above, 12 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=0.75, LOEUF=0.662 — LoF-tolerant
GWAS Catalog 25 unique SNPs / 45 rows
ClinVar 41 records; 8 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance