CausalSentinel

Protein Dossier — CALB1 (Calbindin)

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
Alcohol intake frequency -0.0195 0.00695 0.00514 Wald ratio 1 trans NA
Glioma -0.2 0.0843 0.0177 Wald ratio 1 trans NA
Cardioembolic stroke 0.143 0.0621 0.0212 Wald ratio 1 trans NA
Cancer code self-reported: malignant melanoma -0.14 0.0616 0.0233 Wald ratio 1 trans NA
Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal 0.0828 0.0366 0.0237 Wald ratio 1 trans NA
Depressive symptoms -0.0165 0.00732 0.0244 Wald ratio 1 trans NA
Non-cancer illness code self-reported: arthritis (nos) 0.101 0.0491 0.0394 Wald ratio 1 trans NA
Non-cancer illness code self-reported: hypertension -0.0168 0.00815 0.0398 Wald ratio 1 trans NA
Bipolar disorder 0.0933 0.0456 0.0406 Wald ratio 1 trans NA
Heel bone mineral density (BMD) T-score automated -0.0123 0.00609 0.0431 Wald ratio 1 trans NA
Chronic kidney disease -0.0586 0.0293 0.0455 Wald ratio 1 trans NA
Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms 0.071 0.0357 0.0466 Wald ratio 1 trans NA
…and 80 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

30 association rows across 22 traits (29 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
CALB1 protein levels 1e-83 rs143241372 2 GCST90468526 no MR -> candidate analysis
DECR1/METAP1D protein level ratio 4e-52 rs117462290 1 GCST90314448 no MR -> candidate analysis
DECR1/MAP2K6 protein level ratio 3e-40 rs117462290 1 GCST90314447 no MR -> candidate analysis
DECR1/FXN protein level ratio 1e-38 rs117462290 1 GCST90314446 no MR -> candidate analysis
DECR1/PLXNA4 protein level ratio 1e-37 rs117462290 1 GCST90314449 no MR -> candidate analysis
BCR/DECR1 protein level ratio 3e-36 rs117462290 1 GCST90313489 no MR -> candidate analysis
DECR1/PRDX3 protein level ratio 2e-35 rs117462290 1 GCST90314450 no MR -> candidate analysis
CLPP/DECR1 protein level ratio 1e-32 rs117462290 1 GCST90314137 no MR -> candidate analysis
CLIP2/DECR1 protein level ratio 4e-31 rs117462290 1 GCST90314126 no MR -> candidate analysis
DECR1/STX4 protein level ratio 7e-31 rs117462290 1 GCST90314451 no MR -> candidate analysis
DECR1/STX8 protein level ratio 1e-28 rs117462290 1 GCST90314452 no MR -> candidate analysis
ATP5IF1/DECR1 protein level ratio 6e-28 rs117462290 1 GCST90313382 no MR -> candidate analysis
…and 10 more traits (see JSON)          

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

Top diseases by Open Targets association (of 1715 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
cutaneous melanoma 0.471 common-variant locus no MR -> candidate analysis
kidney disorder 0.462 common-variant locus no MR -> candidate analysis
stroke disorder 0.407 common-variant locus no MR -> candidate analysis
alcohol drinking 0.407 common-variant locus no MR -> candidate analysis
gestational diabetes 0.394 common-variant locus no MR -> candidate analysis
smoking initiation 0.393 common-variant locus no MR -> candidate analysis
placental abruption 0.367 common-variant locus no MR -> candidate analysis
liver disorder 0.347 common-variant locus no MR -> candidate analysis
Abnormality of the skeletal system 0.258 common-variant locus no MR -> candidate analysis
attention deficit-hyperactivity disorder 0.246 common-variant locus no MR -> candidate analysis
substance abuse 0.246 common-variant locus no MR -> candidate analysis
nervous system disorder 0.22 common-variant locus no MR -> candidate analysis
Alzheimer disease 0.054 common-variant locus no MR -> candidate analysis

Of the 13 rows above, 13 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=0.95, LOEUF=0.521 — LoF-INTOLERANT
GWAS Catalog 48 unique SNPs / 85 rows
ClinVar 62 records; 6 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance