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: I84 Haemorrhoids | -0.155 | 0.0529 | 0.00343 | Wald ratio | 1 | cis | NA |
| Cancer code self-reported: basal cell carcinoma | -0.286 | 0.0989 | 0.00382 | Wald ratio | 1 | cis | NA |
| Thyroid cancer | 0.582 | 0.242 | 0.0163 | Wald ratio | 1 | cis | NA |
| Total cholesterol | -0.0355 | 0.0153 | 0.0203 | Wald ratio | 1 | cis | NA |
| Squamous cell lung cancer | -0.192 | 0.0846 | 0.023 | Wald ratio | 1 | cis | NA |
| Years of schooling | 0.026 | 0.0116 | 0.0244 | Wald ratio | 1 | cis | NA |
| Low grade serous ovarian cancer | -0.314 | 0.139 | 0.0245 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K44 Diaphragmatic hernia | -0.143 | 0.0653 | 0.0282 | Wald ratio | 1 | cis | NA |
| LDL cholesterol | -0.0329 | 0.0156 | 0.0348 | Wald ratio | 1 | cis | NA |
| Fasting proinsulin | 0.0491 | 0.0234 | 0.0358 | Wald ratio | 1 | cis | NA |
| Lung cancer | -0.112 | 0.0538 | 0.0381 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Wrist | -0.114 | 0.0565 | 0.0432 | Wald ratio | 1 | cis | NA |
| …and 105 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
242 association rows across 178 traits (214 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 CRTAC1 levels | 5e-2781 | rs56007204 | 3 | GCST90860500 | no MR -> candidate analysis |
| CRTAC1 protein levels | 2e-253 | rs7899412 | 20 | GCST90468870 | no MR -> candidate analysis |
| Cartilage acidic protein 1 levels | 5e-224 | rs684225 | 4 | GCST90247146 | no MR -> candidate analysis |
| Serum levels of protein CRTAC1 | 4e-62 | rs588061 | 1 | GCST90089108 | no MR -> candidate analysis |
| Blood protein levels | 9e-47 | rs588061 | 1 | GCST006585 | no MR -> candidate analysis |
| Cerebrospinal fluid protein CRTAC1 levels | 1e-28 | rs56007204 | 1 | GCST90944729 | no MR -> candidate analysis |
| Body mass index | 6e-23 | rs522110 | 18 | GCST009871 | no MR -> candidate analysis |
| Body shape phenotype PC1 | 4e-21 | rs2439823 | 1 | GCST90832989 | no MR -> candidate analysis |
| Body mass index (MTAG) | 5e-21 | rs2439823 | 2 | GCST90179150 | no MR -> candidate analysis |
| Metabolic syndrome | 1e-20 | rs10883027 | 3 | GCST90444487 | no MR -> candidate analysis |
| Body mass index (UKB data field 21001) | 4e-20 | rs2439823 | 1 | GCST90468161 | no MR -> candidate analysis |
| Educational attainment | 7e-19 | rs2477674 | 1 | GCST90105038 | no MR -> candidate analysis |
| …and 166 more traits (see JSON) |
Top diseases by Open Targets association (of 157 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 |
|---|---|---|---|---|
| smoking initiation | 0.6 | — | common-variant locus | no MR -> candidate analysis |
| metabolic syndrome | 0.482 | — | common-variant locus | no MR -> candidate analysis |
| hypertensive disorder | 0.482 | — | common-variant locus | no MR -> candidate analysis |
| essential hypertension | 0.482 | — | common-variant locus | no MR -> candidate analysis |
| coronary atherosclerosis | 0.48 | — | common-variant locus | no MR -> candidate analysis |
| cardiovascular disorder | 0.47 | — | common-variant locus | no MR -> candidate analysis |
| respiratory system disorder | 0.463 | — | common-variant locus | no MR -> candidate analysis |
| coronary artery disorder | 0.434 | — | common-variant locus | no MR -> candidate analysis |
| duodenal ulcer | 0.425 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.41 | — | common-variant locus | no MR -> candidate analysis |
| thyroiditis | 0.361 | — | common-variant locus | no MR -> candidate analysis |
| digestive system disorder | 0.36 | — | common-variant locus | no MR -> candidate analysis |
| secondary malignant neoplasm | 0.316 | — | common-variant locus | no MR -> candidate analysis |
| dermatomycosis | 0.277 | — | common-variant locus | no MR -> candidate analysis |
| Hematemesis | 0.248 | — | 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.
| Layer | Result |
|---|---|
| ChEMBL druggability | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=4.9e-06, LOEUF=0.718 — LoF-tolerant |
| GWAS Catalog | 105 unique SNPs / 240 rows |
| ClinVar | 152 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 157 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 ‘CRTAC1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 152 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 178 traits by best p-value, aggregated from 242 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/Q9NQ79 — 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/ENSG00000095713/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CRTAC1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CRTAC1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CRTAC1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CRTAC1 — GWAS Catalog search API (live; release not exposed)