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 |
|---|---|---|---|---|---|---|---|
| Femoral neck bone mineral density | -0.104 | 0.0469 | 0.0267 | Wald ratio | 1 | trans | NA |
| Eczema | -0.327 | 0.17 | 0.0539 | Wald ratio | 1 | trans | NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | -0.0724 | 0.0477 | 0.129 | Wald ratio | 1 | trans | NA |
| Forearm bone mineral density | -0.114 | 0.0949 | 0.231 | Wald ratio | 1 | trans | NA |
| Ovarian cancer | -0.0779 | 0.0711 | 0.273 | Wald ratio | 1 | trans | NA |
| Endometrioid ovarian cancer | -0.166 | 0.153 | 0.275 | Wald ratio | 1 | trans | NA |
| Clear cell ovarian cancer | -0.222 | 0.208 | 0.287 | Wald ratio | 1 | trans | NA |
| Birth weight | 0.0194 | 0.0188 | 0.303 | Wald ratio | 1 | trans | NA |
| High grade serous ovarian cancer | -0.0817 | 0.0844 | 0.333 | Wald ratio | 1 | trans | NA |
| Invasive mucinous ovarian cancer | 0.149 | 0.209 | 0.476 | Wald ratio | 1 | trans | NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | -0.0275 | 0.0401 | 0.493 | Wald ratio | 1 | trans | NA |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
86 association rows across 37 traits (68 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 |
|---|---|---|---|---|---|
| CRISP3 protein levels | 5e-168 | rs141218036 | 8 | GCST90468866 | no MR -> candidate analysis |
| CRISP2 protein levels | 1e-115 | rs142915124 | 9 | GCST90468865 | no MR -> candidate analysis |
| Circulating CRISP2 levels | 1e-63 | rs142599928 | 1 | GCST90860530 | no MR -> candidate analysis |
| Bone mineral density mean | 1e-61 | rs139868657 | 2 | GCST90321120 | no MR -> candidate analysis |
| Metabolic syndrome | 1e-18 | rs4391262 | 3 | GCST90444487 | no MR -> candidate analysis |
| Body mass index | 3e-18 | rs72885809 | 23 | GCST009871 | no MR -> candidate analysis |
| Age at first sexual intercourse | 1e-17 | rs141547796 | 1 | GCST90000047 | no MR -> candidate analysis |
| Body mass index (MTAG) | 5e-17 | rs280322 | 5 | GCST90179150 | no MR -> candidate analysis |
| Whole body fat mass (UKB data field 23100) | 1e-16 | rs12528998 | 1 | GCST90428121 | no MR -> candidate analysis |
| Attention deficit hyperactivity disorder or autism spectrum | 6e-13 | rs141547796 | 1 | GCST90134330 | no MR -> candidate analysis |
| BMI (standard GWA) | 6e-12 | rs72885809 | 2 | GCST90267268 | no MR -> candidate analysis |
| Complication of amputation stump (PheCode 874) | 2e-11 | rs775233568 | 1 | GCST90480619 | no MR -> candidate analysis |
| …and 25 more traits (see JSON) |
Top diseases by Open Targets association (of 19 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 |
|---|---|---|---|---|
| hypertensive disorder | 0.541 | — | common-variant locus | no MR -> candidate analysis |
| neoplasm | 0.382 | — | common-variant locus | no MR -> candidate analysis |
| pneumonitis | 0.382 | — | common-variant locus | no MR -> candidate analysis |
| placental abruption | 0.377 | — | common-variant locus | no MR -> candidate analysis |
| cardiovascular disorder | 0.355 | — | common-variant locus | no MR -> candidate analysis |
| metabolic syndrome | 0.354 | — | common-variant locus | no MR -> candidate analysis |
| squamous cell carcinoma | 0.353 | — | common-variant locus | no MR -> candidate analysis |
| trauma complication | 0.353 | — | common-variant locus | no MR -> candidate analysis |
| glomerulonephritis | 0.346 | — | common-variant locus | no MR -> candidate analysis |
| Abnormal male internal genitalia morphology | 0.346 | — | common-variant locus | no MR -> candidate analysis |
| benign chondrogenic neoplasm | 0.346 | — | common-variant locus | no MR -> candidate analysis |
| smoking initiation | 0.343 | — | common-variant locus | no MR -> candidate analysis |
| muscular atrophy | 0.316 | — | common-variant locus | no MR -> candidate analysis |
| corneal neovascularization | 0.316 | — | common-variant locus | no MR -> candidate analysis |
| placenta praevia | 0.044 | — | 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=0.052, LOEUF=5.83 — LoF-tolerant |
| GWAS Catalog | 83 unique SNPs / 96 rows |
| ClinVar | 30 records; 10 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 19 of 19 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 ‘DEFB112’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 30 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 37 traits by best p-value, aggregated from 86 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/Q30KQ8 — 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/ENSG00000180872/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/DEFB112 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/DEFB112 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=DEFB112%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/DEFB112 — GWAS Catalog search API (live; release not exposed)