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 |
|---|---|---|---|---|---|---|---|
| Inflammatory bowel disease | -0.0737 | 0.0182 | 4.96e-05 | Wald ratio | 1 | cis | NA |
| Crohn’s disease | -0.0871 | 0.0219 | 7.12e-05 | Wald ratio | 1 | cis | NA |
| Amyotrophic lateral sclerosis | -0.103 | 0.0311 | 8.89e-04 | Wald ratio | 1 | cis | NA |
| Birth weight | -0.0199 | 0.00634 | 0.00165 | Wald ratio | 1 | cis | NA |
| Body mass index (BMI) | -0.0118 | 0.00413 | 0.00415 | Wald ratio | 1 | cis | NA |
| Ulcerative colitis | -0.0641 | 0.0227 | 0.00477 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: iron deficiency anaemia | -0.181 | 0.0682 | 0.00805 | Wald ratio | 1 | cis | NA |
| Ischemic stroke | -0.0697 | 0.0283 | 0.0137 | Wald ratio | 1 | cis | NA |
| Multiple sclerosis | -0.0695 | 0.0286 | 0.0152 | Wald ratio | 1 | cis | NA |
| Femoral neck bone mineral density | 0.0306 | 0.0129 | 0.018 | Wald ratio | 1 | cis | NA |
| Small vessel disease | -0.143 | 0.0618 | 0.0208 | Wald ratio | 1 | cis | NA |
| HDL cholesterol | -0.0195 | 0.0085 | 0.022 | Wald ratio | 1 | cis | NA |
| …and 107 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
78 association rows across 55 traits (72 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 |
|---|---|---|---|---|---|
| Chymotrypsinogen B2 levels | 9e-1119 | rs66584288 | 2 | GCST90247030 | no MR -> candidate analysis |
| Chymotrypsinogen B levels | 1e-252 | rs8051363 | 2 | GCST90247029 | no MR -> candidate analysis |
| Blood protein levels | 6e-235 | rs7202566 | 4 | GCST006585 | no MR -> candidate analysis |
| CTRL protein levels | 7e-202 | rs8051363 | 2 | GCST90468907 | no MR -> candidate analysis |
| CPB1/KIRREL2 protein level ratio | 8e-184 | rs7202877 | 1 | GCST90314210 | no MR -> candidate analysis |
| Serum levels of protein CTRB2 | 1e-159 | rs8051363 | 1 | GCST90089138 | no MR -> candidate analysis |
| Chymotrypsinogen B levels (CTRB1.5671.1.3) | 2e-157 | rs8051363 | 2 | GCST90240705 | no MR -> candidate analysis |
| Circulating CPA1 levels | 5e-139 | rs8055167 | 1 | GCST90859969 | no MR -> candidate analysis |
| Circulating CPB1 levels | 1e-120 | rs8055167 | 1 | GCST90859977 | no MR -> candidate analysis |
| CELA3A/KIRREL2 protein level ratio | 5e-104 | rs7202877 | 1 | GCST90314013 | no MR -> candidate analysis |
| CTRC/KIRREL2 protein level ratio | 2e-96 | rs7202877 | 1 | GCST90314309 | no MR -> candidate analysis |
| Circulating PRSS2 levels | 6e-94 | rs8055167 | 1 | GCST90860437 | no MR -> candidate analysis |
| …and 43 more traits (see JSON) |
Top diseases by Open Targets association (of 62 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 |
|---|---|---|---|---|
| type 2 diabetes mellitus | 0.95 | — | common-variant locus | no MR -> candidate analysis |
| diabetes mellitus | 0.933 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.896 | — | common-variant locus | no MR -> candidate analysis |
| type 1 diabetes mellitus | 0.855 | — | common-variant locus | no MR -> candidate analysis |
| age-related macular degeneration | 0.771 | — | common-variant locus | no MR -> candidate analysis |
| COVID-19 | 0.739 | — | common-variant locus | no MR -> candidate analysis |
| diabetic neuropathy | 0.724 | — | common-variant locus | no MR -> candidate analysis |
| exocrine pancreatic carcinoma | 0.704 | — | common-variant locus | no MR -> candidate analysis |
| coronary artery disorder | 0.68 | — | common-variant locus | no MR -> candidate analysis |
| alcoholic pancreatitis | 0.59 | — | common-variant locus | no MR -> candidate analysis |
| acute pancreatitis | 0.529 | — | common-variant locus | no MR -> candidate analysis |
| atrophic macular degeneration | 0.514 | — | common-variant locus | no MR -> candidate analysis |
| wet macular degeneration | 0.514 | — | common-variant locus | no MR -> candidate analysis |
| coronary atherosclerosis | 0.465 | — | common-variant locus | no MR -> candidate analysis |
| Abnormal pupillary function | 0.453 | — | 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 | 0 known modulators (Chymotrypsinogen B) |
| gnomAD constraint | pLI=0.00012, LOEUF=1.13 — LoF-tolerant |
| GWAS Catalog | 116 unique SNPs / 285 rows |
| ClinVar | 117 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | 1 clinical annotations across 2 drugs |
phenome — Top 30 of 62 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 ‘CTRB1’ and resolved to ‘Chymotrypsinogen B’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 117 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 55 traits by best p-value, aggregated from 78 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/P17538 — 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/ENSG00000168925/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4796/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CTRB1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CTRB1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CTRB1%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=CTRB1 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/CTRB1 — GWAS Catalog search API (live; release not exposed)