Protein Dossier — CA3 (Carbonic anhydrase 3)
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: R11 Nausea and vomiting |
0.451 |
0.134 |
7.69e-04 |
Wald ratio |
1 |
cis |
NA |
| Forced vital capacity (FVC) |
-0.0336 |
0.0106 |
0.00158 |
Wald ratio |
1 |
cis |
NA |
| Subjective well being |
-0.0507 |
0.0184 |
0.00596 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M72 Fibroblastic disorders |
0.292 |
0.135 |
0.0301 |
Wald ratio |
1 |
cis |
NA |
| Fractured bone site(s): Ankle |
0.198 |
0.0917 |
0.031 |
Wald ratio |
1 |
cis |
NA |
| Forced expiratory volume in 1-second (FEV1) |
-0.0242 |
0.0112 |
0.0312 |
Wald ratio |
1 |
cis |
NA |
| Alcohol intake frequency |
-0.0402 |
0.0192 |
0.0359 |
Wald ratio |
1 |
cis |
NA |
| Pulse rate |
0.0477 |
0.0228 |
0.0364 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertension |
-0.0472 |
0.0232 |
0.0415 |
Wald ratio |
1 |
cis |
NA |
| Cancer code self-reported: basal cell carcinoma |
0.223 |
0.11 |
0.0421 |
Wald ratio |
1 |
cis |
NA |
| Hippocampus volume |
50.5 |
25.8 |
0.0505 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: J33 Nasal polyp |
0.282 |
0.146 |
0.0524 |
Wald ratio |
1 |
cis |
NA |
| …and 80 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3799_11_2 |
Carbonic anhydrase III |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
30 association rows across 23 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 |
| CA1/CA3 protein level ratio |
9e-287 |
rs11781220 |
1 |
GCST90313572 |
no MR -> candidate analysis |
| CA3/HMBS protein level ratio |
4e-143 |
rs11781220 |
1 |
GCST90313584 |
no MR -> candidate analysis |
| Circulating CA3 levels |
1e-134 |
rs2072696 |
2 |
GCST90860436 |
no MR -> candidate analysis |
| BLVRB/CA3 protein level ratio |
1e-130 |
rs11781220 |
1 |
GCST90313523 |
no MR -> candidate analysis |
| CA3 protein levels |
5e-125 |
rs2072696 |
3 |
GCST90468512 |
no MR -> candidate analysis |
| ALDH1A1/CA3 protein level ratio |
1e-103 |
rs11781220 |
1 |
GCST90313244 |
no MR -> candidate analysis |
| Carbonic anhydrase 3 levels |
7e-44 |
rs2072696 |
2 |
GCST90246863 |
no MR -> candidate analysis |
| Bone mineral density mean |
4e-39 |
rs72682966 |
2 |
GCST90321120 |
no MR -> candidate analysis |
| Carbonic anhydrase 1 levels |
5e-32 |
rs7837972 |
1 |
GCST90137710 |
no MR -> candidate analysis |
| Mean corpuscular hemoglobin concentration |
7e-27 |
rs13273654 |
3 |
GCST90002328 |
no MR -> candidate analysis |
| Mean reticulocyte volume (UKB data field 30260) |
4e-19 |
rs11261474 |
1 |
GCST90468088 |
no MR -> candidate analysis |
| Immature fraction of reticulocytes |
6e-19 |
rs1390712 |
1 |
GCST90002387 |
no MR -> candidate analysis |
| …and 11 more traits (see JSON) |
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 227 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 |
| essential tremor |
0.386 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 1 rows above, 1 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 |
0 known modulators (Carbonic anhydrase 3) |
| gnomAD constraint |
pLI=2.3e-09, LOEUF=1.14 — LoF-tolerant |
| GWAS Catalog |
57 unique SNPs / 103 rows |
| ClinVar |
66 records; 4 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 227 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘CA3’ and resolved to ‘Carbonic anhydrase 3’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 66 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 23 traits by best p-value, aggregated from 30 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/P07451 — 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/ENSG00000164879/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2885/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CA3 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CA3 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CA3%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CA3 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:25:05 · 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