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: D12 Benign neoplasm of colon rectum anus and anal canal | 0.267 | 0.0607 | 1.06e-05 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: diverticular disease or diverticulitis | 0.234 | 0.0704 | 8.93e-04 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms | 0.19 | 0.0632 | 0.00273 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: C50 Malignant neoplasm of breast | 0.151 | 0.0631 | 0.0168 | Wald ratio | 1 | cis | NA |
| Red blood cell count | 0.0241 | 0.0103 | 0.0188 | Wald ratio | 1 | cis | NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.0625 | 0.0273 | 0.0219 | Wald ratio | 1 | cis | NA |
| Mean cell haemoglobin concentration | -0.034 | 0.015 | 0.0232 | Wald ratio | 1 | cis | NA |
| Mean cell volume | -0.268 | 0.12 | 0.0257 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: enlarged prostate | -0.212 | 0.1 | 0.0343 | Wald ratio | 1 | cis | NA |
| Small vessel disease | 0.39 | 0.191 | 0.0406 | Wald ratio | 1 | cis | NA |
| Age at menopause | 0.187 | 0.0935 | 0.0455 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K80 Cholelithiasis | 0.109 | 0.0586 | 0.0633 | Wald ratio | 1 | cis | NA |
| …and 83 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
40 association rows across 26 traits (35 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 CHRDL2 levels | 6e-382 | rs574672574 | 1 | GCST90860378 | no MR -> candidate analysis |
| Circulating BMP4 levels | 8e-113 | rs574672574 | 2 | GCST90859714 | no MR -> candidate analysis |
| BMP4 protein levels | 1e-109 | rs574672574 | 1 | GCST90468453 | no MR -> candidate analysis |
| Height | 9e-93 | rs2000924 | 1 | GCST90245848 | no MR -> candidate analysis |
| Chordin-like protein 2 levels | 6e-86 | rs551789974 | 1 | GCST90247151 | no MR -> candidate analysis |
| Serum levels of protein CHRDL2 | 1e-85 | rs61389091 | 1 | GCST90089279 | no MR -> candidate analysis |
| Blood protein levels | 1e-47 | rs11236228 | 2 | GCST006585 | no MR -> candidate analysis |
| Bone morphogenetic protein 4 levels | 1e-35 | rs551789974 | 1 | GCST90246719 | no MR -> candidate analysis |
| Bone morphogenetic protein 6 levels | 6e-34 | rs535025308 | 1 | GCST90246720 | no MR -> candidate analysis |
| Serum levels of protein BMP6 | 6e-34 | rs76136269 | 1 | GCST90090203 | no MR -> candidate analysis |
| BMP6 protein levels | 6e-32 | rs11607100 | 1 | GCST90468454 | no MR -> candidate analysis |
| Circulating BMP6 levels | 8e-32 | rs11607100 | 1 | GCST90859741 | no MR -> candidate analysis |
| …and 14 more traits (see JSON) |
Top diseases by Open Targets association (of 86 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 |
|---|---|---|---|---|
| colonic neoplasm | 0.711 | — | common-variant locus | no MR -> candidate analysis |
| polyp of colon | 0.712 | — | common-variant locus | no MR -> candidate analysis |
| colorectal cancer | 0.68 | — | common-variant locus | no MR -> candidate analysis |
| benign colon neoplasm | 0.625 | — | common-variant locus | MR: beta=0.267, p=1.06e-05 (cis) |
| uterine prolapse | 0.596 | — | common-variant locus | no MR -> candidate analysis |
| anus neoplasm | 0.579 | — | common-variant locus | MR: beta=0.267, p=1.06e-05 (cis) |
| rectal neoplasm | 0.579 | — | common-variant locus | no MR -> candidate analysis |
| pernicious anemia | 0.39 | — | common-variant locus | no MR -> candidate analysis |
| contracture | 0.389 | — | common-variant locus | no MR -> candidate analysis |
| Hallux valgus | 0.365 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.101 | — | common-variant locus | no MR -> candidate analysis |
| pelvic organ prolapse | 0.1 | — | common-variant locus | no MR -> candidate analysis |
| atrial fibrillation | 0.065 | — | common-variant locus | no MR -> candidate analysis |
| prolapse of female genital organ | 0.05 | — | common-variant locus | no MR -> candidate analysis |
Of the 14 rows above, 12 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=4.1e-11, LOEUF=0.98 — LoF-tolerant |
| GWAS Catalog | 68 unique SNPs / 136 rows |
| ClinVar | 77 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 86 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 ‘CHRDL2’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 77 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 26 traits by best p-value, aggregated from 40 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/Q6WN34 — 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/ENSG00000054938/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CHRDL2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CHRDL2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CHRDL2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CHRDL2 — GWAS Catalog search API (live; release not exposed)