CausalSentinel

Protein Dossier — CLEC12A (C-type lectin domain family 12 member A)

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
Eye problems or disorders: Diabetes related eye disease 0.0782 0.0236 9.22e-04 Wald ratio 1 cis NA
Non-cancer illness code self-reported: osteoporosis 0.0459 0.0153 0.00263 Wald ratio 1 cis NA
Non-cancer illness code self-reported: muscle or soft tissue injuries 0.0514 0.0223 0.0215 Wald ratio 1 cis NA
Diagnoses - main ICD10: R10 Abdominal and pelvic pain -0.0216 0.00983 0.0281 Wald ratio 1 cis NA
Non-cancer illness code self-reported: hypothyroidism or myxoedema 0.018 0.0087 0.0383 Wald ratio 1 cis NA
Hip osteoarthritis 0.0465 0.0231 0.0439 Wald ratio 1 cis NA
Non-cancer illness code self-reported: ankylosing spondylitis -0.0782 0.0408 0.0553 Wald ratio 1 cis NA
Diagnoses - main ICD10: R35 Polyuria -0.065 0.0341 0.0563 Wald ratio 1 cis NA
Non-cancer illness code self-reported: pulmonary embolism (with or without) dvt -0.0429 0.0231 0.0628 Wald ratio 1 cis NA
Diagnoses - main ICD10: L03 Cellulitis -0.0425 0.0231 0.0665 Wald ratio 1 cis NA
Diagnoses - main ICD10: K60 Fissure and fistula of anal and rectal regions -0.0569 0.0312 0.0682 Wald ratio 1 cis NA
Diagnoses - main ICD10: M54 Dorsalgia 0.0271 0.0151 0.0721 Wald ratio 1 cis NA
…and 63 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

33 association rows across 21 traits (28 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
C-type lectin domain family 12 member A levels 9e-5734 rs588272 5 GCST90247047 no MR -> candidate analysis
C-type lectin domain family 12 member A levels (CLEC12A.1118 9e-1973 rs2961544 2 GCST90240505 no MR -> candidate analysis
C-type lectin domain family 12 member A level in Chronic kid 1e-229 rs479499 1 GCST90233113 no MR -> candidate analysis
Serum levels of protein CLEC12A 2e-149 rs7309256 1 GCST90086597 no MR -> candidate analysis
CLEC12A protein levels 9e-132 rs111706575 2 GCST90468765 no MR -> candidate analysis
Serum levels of protein CLEC1B 2e-114 rs544605 2 GCST90088666 no MR -> candidate analysis
CLEC7A protein levels 4e-87 rs151198877 3 GCST90468778 no MR -> candidate analysis
Blood protein levels 5e-70 rs544605 1 GCST006585 no MR -> candidate analysis
Protein FAM171B:Extracellular domain protein levels (SomaSca 9e-59 rs2961544 1 GCST90437795 no MR -> candidate analysis
C-type lectin domain family 1 member B levels 1e-47 rs4763395 3 GCST90247048 no MR -> candidate analysis
Hematological traits (multi-trait analysis) 4e-25 rs11524533 1 GCST90838669 no MR -> candidate analysis
C-type lectin domain family 1 member B level in Chronic kidn 5e-18 rs544605 1 GCST90237627 no MR -> candidate analysis
…and 9 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 149 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
pericarditis 0.431 common-variant locus no MR -> candidate analysis
placental abruption 0.339 common-variant locus no MR -> candidate analysis
non-autoimmune hemolytic anemia 0.238 common-variant locus no MR -> candidate analysis

Of the 3 rows above, 3 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=4.4e-07, LOEUF=1.19 — LoF-tolerant
GWAS Catalog 75 unique SNPs / 150 rows
ClinVar 143 records; 5 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance