Protein Dossier — CA1 (Carbonic anhydrase 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 |
| Fractured bone site(s): Other bones |
0.181 |
0.0604 |
0.00271 |
Wald ratio |
1 |
cis |
NA |
| Fractured or broken bones in last 5 years |
0.134 |
0.0453 |
0.003 |
Wald ratio |
1 |
cis |
NA |
| Forced vital capacity (FVC) |
0.0374 |
0.0136 |
0.00596 |
Wald ratio |
1 |
cis |
NA |
| Serum creatinine (eGFRcrea) |
-0.0156 |
0.00626 |
0.0124 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K35 Acute appendicitis |
0.401 |
0.165 |
0.0148 |
Wald ratio |
1 |
cis |
NA |
| Potassium in urine |
-0.0406 |
0.0168 |
0.0157 |
Wald ratio |
1 |
cis |
NA |
| Forced expiratory volume in 1-second (FEV1) |
0.0345 |
0.0143 |
0.016 |
Wald ratio |
1 |
cis |
NA |
| Birth length |
-0.166 |
0.0701 |
0.0178 |
Wald ratio |
1 |
cis |
NA |
| Cancer code self-reported: small intestine or small bowel cancer |
0.871 |
0.387 |
0.0246 |
Wald ratio |
1 |
cis |
NA |
| Body mass index (BMI) |
0.0361 |
0.0166 |
0.0292 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: chronic obstructive airways disease or copd |
0.412 |
0.197 |
0.0365 |
Wald ratio |
1 |
cis |
NA |
| Neuroblastoma |
0.63 |
0.303 |
0.0379 |
Wald ratio |
1 |
cis |
NA |
| …and 104 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4969_2_1 |
Carbonic anhydrase I |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
61 association rows across 38 traits (60 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 CA13 levels |
5e-637 |
rs56072918 |
2 |
GCST90860354 |
no MR -> candidate analysis |
| Carbonic anhydrase 13 levels |
2e-220 |
rs73688702 |
2 |
GCST90246861 |
no MR -> candidate analysis |
| CA1/HMBS protein level ratio |
4e-114 |
rs1496532 |
1 |
GCST90313573 |
no MR -> candidate analysis |
| BLVRB/CA1 protein level ratio |
1e-91 |
rs1496532 |
1 |
GCST90313521 |
no MR -> candidate analysis |
| CA1/TGM2 protein level ratio |
1e-52 |
rs1496532 |
1 |
GCST90313575 |
no MR -> candidate analysis |
| mean corpuscular hemoglobin concentration (MCHC, mean, inv-n |
3e-47 |
rs142714972 |
1 |
GCST90479670 |
no MR -> candidate analysis |
| Circulating CA1 levels |
5e-44 |
rs12544332 |
2 |
GCST90860427 |
no MR -> candidate analysis |
| CA1 protein levels |
2e-43 |
rs12544332 |
1 |
GCST90468510 |
no MR -> candidate analysis |
| mean corpuscular hemoglobin concentration (MCHC, maximum, in |
6e-43 |
rs142714972 |
1 |
GCST90479669 |
no MR -> candidate analysis |
| Carbonic anhydrase 1 levels |
2e-42 |
rs116866430 |
1 |
GCST90162208 |
no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) |
4e-39 |
rs12544332 |
2 |
GCST90838669 |
no MR -> candidate analysis |
| High light scatter reticulocyte count |
4e-37 |
rs12544332 |
3 |
GCST90002385 |
no MR -> candidate analysis |
| …and 26 more traits (see JSON) |
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
No genetically-associated diseases retrieved from Open Targets.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
6 known modulators (Carbonic anhydrase 1) |
| gnomAD constraint |
pLI=2.2e-09, LOEUF=1.29 — LoF-tolerant |
| GWAS Catalog |
57 unique SNPs / 114 rows |
| ClinVar |
80 records; 4 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 401 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 ‘CA1’ and resolved to ‘Carbonic anhydrase 1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 80 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 38 traits by best p-value, aggregated from 61 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/P00915 — 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/ENSG00000133742/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL261/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CA1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CA1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CA1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CA1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:24:12 · 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