Protein Dossier — CA6 (Carbonic anhydrase 6)
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 |
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
-0.0547 |
0.0197 |
0.0054 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I83 Varicose veins of lower extremities |
-0.0579 |
0.0268 |
0.0309 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms |
-0.0667 |
0.0315 |
0.0345 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: bone disorder |
-0.196 |
0.095 |
0.0391 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K40 Inguinal hernia |
-0.0425 |
0.0231 |
0.066 |
Wald ratio |
1 |
cis |
NA |
| Clear cell ovarian cancer |
0.123 |
0.0694 |
0.0762 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux |
0.0276 |
0.017 |
0.104 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I84 Haemorrhoids |
-0.0391 |
0.0242 |
0.107 |
Wald ratio |
1 |
cis |
NA |
| Fractured bone site(s): Other bones |
-0.0257 |
0.0162 |
0.112 |
Wald ratio |
1 |
cis |
NA |
| Body mass index (BMI) |
0.00561 |
0.00362 |
0.122 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: emphysema or chronic bronchitis |
0.0461 |
0.03 |
0.124 |
Wald ratio |
1 |
cis |
NA |
| Potassium in urine |
-0.00543 |
0.00368 |
0.14 |
Wald ratio |
1 |
cis |
NA |
| …and 52 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3352_80_3 |
Carbonic anhydrase 6 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
64 association rows across 25 traits (56 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 CA6 levels |
4e-2892 |
rs3765963 |
5 |
GCST90860635 |
no MR -> candidate analysis |
| CA6/DNER protein level ratio |
6e-2091 |
rs3765964 |
1 |
GCST90313594 |
no MR -> candidate analysis |
| Carbonic anhydrase 6 levels |
1e-574 |
rs3765963 |
13 |
GCST90246867 |
no MR -> candidate analysis |
| CA6 protein levels |
8e-278 |
rs12059715 |
17 |
GCST90468515 |
no MR -> candidate analysis |
| Serum levels of protein CA6 |
4e-262 |
rs3765963 |
4 |
GCST90087657 |
no MR -> candidate analysis |
| Carbonic anhydrase 6 levels (CA6.3352.80.3) |
4e-185 |
rs3765963 |
3 |
GCST90240589 |
no MR -> candidate analysis |
| Blood protein levels |
9e-113 |
rs3765963 |
2 |
GCST006585 |
no MR -> candidate analysis |
| Carbonic anhydrase 6 (analyte X3352.80) levels |
4e-53 |
rs3765963 |
1 |
GCST90425716 |
no MR -> candidate analysis |
| Carbonic anhydrase 6 level in Chronic kidney disease with hy |
2e-19 |
rs58800854 |
1 |
GCST90237335 |
no MR -> candidate analysis |
| Carbonic anhydrase 6 (analyte X13747.9) levels |
4e-18 |
rs3765963 |
1 |
GCST90422345 |
no MR -> candidate analysis |
| Protein levels in obesity |
3e-17 |
rs3765964 |
1 |
GCST010196 |
no MR -> candidate analysis |
| Carbonic anhydrase 6 level in Chronic kidney disease with hy |
9e-17 |
rs11809994 |
1 |
GCST90234072 |
no MR -> candidate analysis |
| …and 13 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 705 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 |
| duodenal ulcer |
0.495 |
— |
common-variant locus |
no MR -> candidate analysis |
| COVID-19 |
0.459 |
— |
common-variant locus |
no MR -> candidate analysis |
| ovarian dysfunction |
0.452 |
— |
common-variant locus |
no MR -> candidate analysis |
| placental abruption |
0.447 |
— |
common-variant locus |
no MR -> candidate analysis |
| malunion fracture |
0.444 |
— |
common-variant locus |
no MR -> candidate analysis |
| DNA methylation |
0.274 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 6 rows above, 6 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 6) |
| gnomAD constraint |
pLI=3.3e-08, LOEUF=1.07 — LoF-tolerant |
| GWAS Catalog |
78 unique SNPs / 156 rows |
| ClinVar |
106 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 705 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 ‘CA6’ and resolved to ‘Carbonic anhydrase 6’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 106 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 25 traits by best p-value, aggregated from 64 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/P23280 — 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/ENSG00000131686/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3025/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CA6 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CA6 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CA6%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CA6 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:25:46 · 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