MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
| Outcome | beta | se | p | method | nSNP | cis/trans | coloc |
|---|---|---|---|---|---|---|---|
| Diagnoses - main ICD10: I83 Varicose veins of lower extremities | 0.27 | 0.0698 | 1.10e-04 | Wald ratio | 1 | cis | NA |
| Endometrioid ovarian cancer | -0.447 | 0.155 | 0.004 | Wald ratio | 1 | cis | NA |
| Thalamus volume | -93 | 33.2 | 0.00507 | Wald ratio | 1 | cis | NA |
| High grade serous ovarian cancer | -0.236 | 0.085 | 0.00549 | Wald ratio | 1 | cis | NA |
| Schizophrenia | -0.154 | 0.0574 | 0.00744 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: migraine | 0.169 | 0.0638 | 0.00803 | Wald ratio | 1 | cis | NA |
| Ovarian cancer | -0.185 | 0.0715 | 0.00984 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N81 Female genital prolapse | 0.224 | 0.0877 | 0.0108 | Wald ratio | 1 | cis | NA |
| Diastolic blood pressure automated reading | 0.0314 | 0.0133 | 0.0185 | Wald ratio | 1 | cis | NA |
| Neo-conscientiousness | -0.881 | 0.401 | 0.0278 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: S66 Injury of muscle and tendon at wrist and hand level | 0.459 | 0.218 | 0.0352 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hiatus hernia | 0.151 | 0.0739 | 0.0417 | Wald ratio | 1 | cis | NA |
| …and 79 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
18 association rows across 14 traits (13 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 levels | 7e-105 | rs140904427 | 1 | GCST90246810 | no MR -> candidate analysis |
| Serum levels of protein CA8 | 2e-25 | rs7009482 | 1 | GCST90086724 | no MR -> candidate analysis |
| Free Cholesterol to Cholesteryl Esters in Large HDL ratio | 2e-21 | rs117065418 | 1 | GCST90827800 | no MR -> candidate analysis |
| Red blood cell erythrocyte count (UKB data field 30010) | 3e-14 | rs7813325 | 1 | GCST90468098 | no MR -> candidate analysis |
| Blood protein levels | 6e-14 | rs7009482 | 1 | GCST006585 | no MR -> candidate analysis |
| Red blood cell count | 8e-13 | rs34254518 | 4 | GCST90002363 | no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) | 4e-12 | rs59743106 | 1 | GCST90838669 | no MR -> candidate analysis |
| Hemoglobin | 1e-10 | rs11345369 | 2 | GCST90002384 | no MR -> candidate analysis |
| Refractive error | 3e-10 | rs2681536 | 1 | GCST90841196 | no MR -> candidate analysis |
| Parkinson’s disease | 6e-8 | rs144074972 | 1 | GCST003984 | no MR -> candidate analysis |
| Total amyloid (SNP x SNP interaction) | 2e-7 | rs4894942 x rs2242154 | 1 | GCST010339 | no MR -> candidate analysis |
| Resistance to COVID-19 infection (Exposed negative vs positi | 2e-6 | rs9643367 | 1 | GCST90255358 | no MR -> candidate analysis |
| …and 2 more traits (see JSON) |
Top diseases by Open Targets association (of 1689 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 |
|---|---|---|---|---|
| Dysequilibrium syndrome | 0.779 | — | established (curated) | no MR -> candidate analysis |
| Rare hereditary ataxia | 0.608 | — | established (curated) | no MR -> candidate analysis |
| cerebellar ataxia, intellectual disability, and dysequilibrium | 0.608 | — | established (curated) | no MR -> candidate analysis |
| schizophrenia | 0.51 | — | common-variant locus | MR: beta=-0.154, p=0.00744 (cis) |
| bilirubin metabolism disease | 0.44 | — | common-variant locus | no MR -> candidate analysis |
| skin disorder | 0.408 | — | common-variant locus | no MR -> candidate analysis |
| psoriasis | 0.397 | — | common-variant locus | MR: beta=0.0996, p=0.376 (cis) |
| alcohol drinking | 0.392 | — | common-variant locus | no MR -> candidate analysis |
| stroke disorder | 0.363 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.362 | — | common-variant locus | no MR -> candidate analysis |
| ovarian neoplasm | 0.355 | — | common-variant locus | no MR -> candidate analysis |
| Increased total eosinophil count | 0.355 | — | common-variant locus | no MR -> candidate analysis |
| muscular disease | 0.353 | — | common-variant locus | no MR -> candidate analysis |
| facial morphology | 0.316 | — | common-variant locus | no MR -> candidate analysis |
| hereditary disease | 0.312 | — | established (curated) | no MR -> candidate analysis |
Of the 15 rows above, 13 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.
| Layer | Result |
|---|---|
| ChEMBL druggability | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=0.00093, LOEUF=0.758 — LoF-tolerant |
| GWAS Catalog | 31 unique SNPs / 61 rows |
| ClinVar | 130 records; 6 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 1689 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 ‘CA8’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 130 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 14 of 14 traits by best p-value, aggregated from 18 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.uniprot: https://www.uniprot.org/uniprotkb/P35219 — 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/ENSG00000178538/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CA8 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CA8 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CA8%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CA8 — GWAS Catalog search API (live; release not exposed)