CausalSentinel

Protein Dossier — DEFB104A (Beta-defensin 104)

MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).

1. Published MR estimates (retrieved, not computed)

Outcome	beta	se	p	method	nSNP	cis/trans	coloc
Endometrioid ovarian cancer	0.481	0.274	0.0797	Wald ratio	1	cis	NA
Neuroticism	-0.0416	0.0297	0.162	Wald ratio	1	cis	NA
Ovarian cancer	0.15	0.132	0.257	Wald ratio	1	cis	NA
Low grade serous ovarian cancer	0.506	0.454	0.264	Wald ratio	1	cis	NA
Forearm bone mineral density	-0.138	0.126	0.271	Wald ratio	1	cis	NA
Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis)	0.0714	0.0658	0.278	Wald ratio	1	cis	NA
Invasive mucinous ovarian cancer	0.366	0.388	0.346	Wald ratio	1	cis	NA
Eczema	-1.76	2.18	0.419	Wald ratio	1	cis	NA
Femoral neck bone mineral density	-0.0451	0.0639	0.48	Wald ratio	1	cis	NA

2. pQTL instrument availability (Tier-B probe)

No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).

3. GWAS Catalog results — traits with signal at this locus

1 association rows across 1 traits (1 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
Creatinine levels in top 1% of individuals by creatinine lev	1e-8	rs529832206	1	GCST90566751	no MR -> candidate analysis

4. Phenome map — where this gene is a genetic locus, vs. where MR exists

No genetically-associated diseases retrieved from Open Targets.

5. Downstream annotation (druggability & safety preview)

Layer	Result
ChEMBL druggability	not available — no ChEMBL target (undrugged)
gnomAD constraint	pLI=NA, LOEUF=NA — Constraint metrics missing; LoF tolerance cannot be judged.
GWAS Catalog	4 unique SNPs / 8 rows
ClinVar	212 records; 17 pathogenic in sample of 30
PharmGKB/ClinPGx	no annotations

Caveats declared by the tools

• phenome — Top 1 of 1 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 ‘DEFB104A’.
• clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 212 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 1 of 1 traits by best p-value, aggregated from 1 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.

Sources

• uniprot: https://www.uniprot.org/uniprotkb/Q8WTQ1 — 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 v3.0
• phenome: https://platform.opentargets.org/target/ENSG00000177023/associations — Open Targets data release 26.06
• gnomad: https://gnomad.broadinstitute.org/gene/DEFB104A — gnomAD constraint via GraphQL API (reference genome GRCh38)
• gwas: https://www.ebi.ac.uk/gwas/genes/DEFB104A — GWAS Catalog REST (live; release not exposed by this endpoint)
• clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=DEFB104A%5Bgene%5D — ClinVar build Build260809-1055.1
• gwas_traits: https://www.ebi.ac.uk/gwas/genes/DEFB104A — GWAS Catalog search API (live; release not exposed)

Provenance

• Generated: 2026-08-14T02:15:35 · Tier: A
• Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
• MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
• Tool errors this run: none

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