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 |
| Non-cancer illness code self-reported: gout |
0.226 |
0.0775 |
0.00363 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: N92 Excessive frequent and irregular menstruation |
0.181 |
0.0672 |
0.007 |
Wald ratio |
1 |
cis |
NA |
| Pulse rate |
0.0528 |
0.0203 |
0.00946 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: G47 Sleep disorders |
0.269 |
0.117 |
0.0213 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K80 Cholelithiasis |
0.155 |
0.069 |
0.0251 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hayfever or allergic rhinitis |
0.0961 |
0.0431 |
0.0258 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M72 Fibroblastic disorders |
0.271 |
0.122 |
0.0261 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm) |
0.855 |
0.414 |
0.0387 |
Wald ratio |
1 |
cis |
NA |
| Ovarian cancer |
-0.152 |
0.0769 |
0.0485 |
Wald ratio |
1 |
cis |
NA |
| Systolic blood pressure automated reading |
-0.0231 |
0.0118 |
0.0498 |
Wald ratio |
1 |
cis |
NA |
| Eczema |
0.197 |
0.102 |
0.0538 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: C50 Malignant neoplasm of breast |
-0.193 |
0.111 |
0.0815 |
Wald ratio |
1 |
cis |
NA |
| …and 55 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3289_19_2 |
Carbonic Anhydrase X |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
146 association rows across 88 traits (113 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 |
| Carbonic anhydrase-related protein 10 levels |
1e-59 |
rs117399000 |
3 |
GCST90246811 |
no MR -> candidate analysis |
| Menarche (age at onset) |
1e-48 |
rs9635759 |
5 |
GCST007078 |
no MR -> candidate analysis |
| Smoking initiation |
6e-40 |
rs1503046 |
10 |
GCST90243985 |
no MR -> candidate analysis |
| Height |
5e-36 |
rs4427850 |
9 |
GCST90245848 |
no MR -> candidate analysis |
| Educational attainment |
2e-28 |
rs2631535 |
3 |
GCST90105038 |
no MR -> candidate analysis |
| Thyroid-stimulating hormone levels |
9e-24 |
rs75261749 |
1 |
GCST90104173 |
no MR -> candidate analysis |
| Type 2 diabetes |
2e-23 |
rs11650852 |
1 |
GCST90134620 |
MR: beta=-0.216, p=0.258 (cis) |
| Serum levels of protein CA10 |
1e-22 |
rs117399000 |
2 |
GCST90087595 |
no MR -> candidate analysis |
| Restless legs syndrome |
7e-20 |
rs34127605 |
3 |
GCST90432061 |
no MR -> candidate analysis |
| Carbonic anhydrase-related protein 10 levels (CA10.13666.222 |
3e-19 |
rs117399000 |
1 |
GCST90240591 |
no MR -> candidate analysis |
| Insomnia |
1e-18 |
rs9889282 |
14 |
GCST90131901 |
no MR -> candidate analysis |
| Adolescent idiopathic scoliosis |
5e-17 |
rs7215018 |
1 |
GCST006287 |
no MR -> candidate analysis |
| …and 76 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 102 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 |
| insomnia |
0.721 |
— |
common-variant locus |
no MR -> candidate analysis |
| esophageal disorder |
0.719 |
— |
common-variant locus |
no MR -> candidate analysis |
| smoking initiation |
0.7 |
— |
common-variant locus |
no MR -> candidate analysis |
| gastroesophageal reflux disease |
0.637 |
— |
common-variant locus |
no MR -> candidate analysis |
| attention deficit-hyperactivity disorder |
0.637 |
— |
common-variant locus |
no MR -> candidate analysis |
| Pain |
0.626 |
— |
common-variant locus |
no MR -> candidate analysis |
| Shoulder pain |
0.601 |
— |
common-variant locus |
no MR -> candidate analysis |
| Neck pain |
0.601 |
— |
common-variant locus |
no MR -> candidate analysis |
| preeclampsia |
0.563 |
— |
common-variant locus |
no MR -> candidate analysis |
| substance abuse |
0.547 |
— |
common-variant locus |
no MR -> candidate analysis |
| multisite chronic pain |
0.544 |
— |
common-variant locus |
no MR -> candidate analysis |
| restless legs syndrome |
0.536 |
— |
common-variant locus |
no MR -> candidate analysis |
| type 2 diabetes mellitus |
0.525 |
— |
common-variant locus |
no MR -> candidate analysis |
| smoking behavior |
0.521 |
— |
common-variant locus |
no MR -> candidate analysis |
| mathematical ability |
0.52 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 15 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=0.99, LOEUF=0.495 — LoF-INTOLERANT |
| GWAS Catalog |
120 unique SNPs / 224 rows |
| ClinVar |
57 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
1 clinical annotations across 2 drugs |
phenome — Top 30 of 102 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 ‘CA10’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 57 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 88 traits by best p-value, aggregated from 146 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/Q9NS85 — 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/ENSG00000154975/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CA10 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CA10 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CA10%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=CA10 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/CA10 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:24:28 · 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