Protein Dossier — COLEC12 (Collectin-12)
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 |
| Diagnoses - main ICD10: K80 Cholelithiasis |
0.283 |
0.0731 |
1.10e-04 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: depression |
0.141 |
0.0497 |
0.00453 |
Wald ratio |
1 |
cis |
NA |
| Total cholesterol |
-0.0812 |
0.0302 |
0.00718 |
Wald ratio |
1 |
cis |
NA |
| Mean cell haemoglobin |
-0.144 |
0.0599 |
0.0165 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: S76 Injury of muscle and tendon at hip and thigh level |
0.777 |
0.347 |
0.0252 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: joint disorder |
0.328 |
0.149 |
0.0281 |
Wald ratio |
1 |
cis |
NA |
| Happiness |
0.0371 |
0.0171 |
0.0297 |
Wald ratio |
1 |
cis |
NA |
| Rheumatoid arthritis |
0.254 |
0.119 |
0.033 |
Wald ratio |
1 |
cis |
NA |
| Triglycerides |
-0.0589 |
0.0277 |
0.0336 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: arthritis (nos) |
0.261 |
0.125 |
0.0371 |
Wald ratio |
1 |
cis |
NA |
| Primary sclerosing cholangitis |
0.408 |
0.208 |
0.0495 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: chronic obstructive airways disease or copd |
0.337 |
0.176 |
0.0554 |
Wald ratio |
1 |
cis |
NA |
| …and 111 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3665_64_3 |
COLEC12 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
91 association rows across 51 traits (83 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 COLEC12 levels |
9e-119 |
rs149622251 |
9 |
GCST90860645 |
no MR -> candidate analysis |
| COLEC12 protein levels |
2e-115 |
rs149622251 |
12 |
GCST90468824 |
no MR -> candidate analysis |
| COLEC12/TNFRSF1A protein level ratio |
2e-86 |
rs77778150 |
1 |
GCST90314187 |
no MR -> candidate analysis |
| COLEC12/NBL1 protein level ratio |
1e-79 |
rs55711819 |
1 |
GCST90314183 |
no MR -> candidate analysis |
| COLEC12/LTBR protein level ratio |
5e-79 |
rs77778150 |
1 |
GCST90314182 |
no MR -> candidate analysis |
| COLEC12/TGFBR2 protein level ratio |
1e-72 |
rs77778150 |
1 |
GCST90314186 |
no MR -> candidate analysis |
| Collectin-12 levels |
5e-70 |
rs145828426 |
3 |
GCST90162409 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein COLEC12 levels |
3e-69 |
rs2305027 |
1 |
GCST90944207 |
no MR -> candidate analysis |
| CLUL1 protein levels |
1e-67 |
rs28610238 |
5 |
GCST90468792 |
no MR -> candidate analysis |
| COL6A3/COLEC12 protein level ratio |
2e-61 |
rs62087992 |
1 |
GCST90314173 |
no MR -> candidate analysis |
| COLEC12/LAIR1 protein level ratio |
9e-59 |
rs62087992 |
1 |
GCST90314181 |
no MR -> candidate analysis |
| Agrin levels |
2e-52 |
rs2305027 |
1 |
GCST90422691 |
no MR -> candidate analysis |
| …and 39 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 254 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 |
| Abnormality of the skeletal system |
0.559 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.482 |
— |
common-variant locus |
no MR -> candidate analysis |
| Cachexia |
0.468 |
— |
common-variant locus |
no MR -> candidate analysis |
| Precordial pain |
0.461 |
— |
common-variant locus |
no MR -> candidate analysis |
| liver disorder |
0.421 |
— |
common-variant locus |
no MR -> candidate analysis |
| non-autoimmune hemolytic anemia |
0.419 |
— |
common-variant locus |
no MR -> candidate analysis |
| brain aneurysm |
0.396 |
— |
common-variant locus |
no MR -> candidate analysis |
| seasonal allergic rhinitis |
0.396 |
— |
common-variant locus |
no MR -> candidate analysis |
| musculoskeletal system disorder |
0.368 |
— |
common-variant locus |
no MR -> candidate analysis |
| spermatogenic failure |
0.299 |
— |
common-variant locus |
no MR -> candidate analysis |
| multinodular goiter |
0.133 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 11 rows above, 11 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=0.0034, LOEUF=0.621 — LoF-tolerant |
| GWAS Catalog |
101 unique SNPs / 209 rows |
| ClinVar |
265 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 254 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — No ChEMBL target for ‘COLEC12’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 265 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 20 of 51 traits by best p-value, aggregated from 91 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/Q5KU26 — 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/ENSG00000158270/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/COLEC12 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/COLEC12 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=COLEC12%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/COLEC12 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:58:13 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: none