Protein Dossier — BCAR3 (Breast cancer anti-estrogen resistance protein 3)
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 |
| Myocardial infarction |
-0.122 |
0.035 |
4.76e-04 |
Wald ratio |
1 |
trans |
NA |
| Coronary heart disease |
-0.106 |
0.0318 |
8.64e-04 |
Wald ratio |
1 |
trans |
NA |
| Amyotrophic lateral sclerosis |
-0.187 |
0.0575 |
0.00113 |
Wald ratio |
1 |
trans |
NA |
| Eczema |
0.169 |
0.0562 |
0.00266 |
Wald ratio |
1 |
trans |
NA |
| Years of schooling |
-0.0375 |
0.0125 |
0.0027 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: N92 Excessive frequent and irregular menstruation |
0.135 |
0.046 |
0.0034 |
Wald ratio |
1 |
trans |
NA |
| Chronic kidney disease |
0.137 |
0.05 |
0.00596 |
Wald ratio |
1 |
trans |
NA |
| Forced vital capacity (FVC) |
-0.0168 |
0.00618 |
0.00649 |
Wald ratio |
1 |
trans |
NA |
| LDL cholesterol |
-0.0472 |
0.0175 |
0.00701 |
Wald ratio |
1 |
trans |
NA |
| Sodium in urine |
0.0187 |
0.00741 |
0.0115 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) |
-0.156 |
0.0627 |
0.0128 |
Wald ratio |
1 |
trans |
NA |
| Heel bone mineral density (BMD) T-score automated |
0.0239 |
0.00975 |
0.0143 |
Wald ratio |
1 |
trans |
NA |
| …and 100 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-5262_57_3 |
BCAR3 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
57 association rows across 46 traits (47 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 |
| Estimated glomerular filtration rate (creatinine) |
1e-19 |
rs7514579 |
3 |
GCST90103633 |
no MR -> candidate analysis |
| Educational attainment |
2e-18 |
rs23766 |
1 |
GCST90105038 |
no MR -> candidate analysis |
| Hip index |
5e-18 |
rs11579685 |
5 |
GCST90020026 |
no MR -> candidate analysis |
| Telomere length (principal component 1) |
6e-16 |
rs11165011 |
1 |
GCST90435144 |
no MR -> candidate analysis |
| Creatinine levels |
6e-16 |
rs236335 |
1 |
GCST90662902 |
no MR -> candidate analysis |
| Estimated glomerular filtration rate (creatinine, cystatin c |
1e-15 |
rs236321 |
1 |
GCST90428446 |
no MR -> candidate analysis |
| Estimated glomerular filtration rate based on creatinine and |
1e-14 |
rs236335 |
1 |
GCST90566737 |
no MR -> candidate analysis |
| heart rate (HR, mean, inv-normal transformed) |
9e-14 |
rs236321 |
1 |
GCST90480666 |
no MR -> candidate analysis |
| white blood cell count (WBC, minimum, inv-norm transformed) |
2e-13 |
rs236336 |
1 |
GCST90476456 |
no MR -> candidate analysis |
| Aphasia (PheCode 292.11) |
4e-13 |
rs564948849 |
1 |
GCST90480740 |
no MR -> candidate analysis |
| Creatinine levels (UKB data field 30700) |
5e-13 |
rs7514579 |
1 |
GCST90468067 |
no MR -> candidate analysis |
| White blood cell count |
6e-13 |
rs7555302 |
2 |
GCST90002374 |
no MR -> candidate analysis |
| …and 34 more traits (see JSON) |
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|
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 1168 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 |
| hair color |
0.656 |
— |
common-variant locus |
no MR -> candidate analysis |
| brain cancer |
0.603 |
— |
common-variant locus |
no MR -> candidate analysis |
| open-angle glaucoma |
0.55 |
— |
common-variant locus |
no MR -> candidate analysis |
| nervous system cancer |
0.482 |
— |
common-variant locus |
no MR -> candidate analysis |
| alopecia areata |
0.453 |
— |
common-variant locus |
no MR -> candidate analysis |
| schizophrenia |
0.443 |
— |
common-variant locus |
no MR -> candidate analysis |
| intelligence |
0.443 |
— |
common-variant locus |
no MR -> candidate analysis |
| Tinnitus |
0.237 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 8 rows above, 8 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.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
not available — no ChEMBL target (undrugged) |
| gnomAD constraint |
pLI=0.0022, LOEUF=0.608 — LoF-tolerant |
| GWAS Catalog |
52 unique SNPs / 104 rows |
| ClinVar |
175 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 1168 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 ‘BCAR3’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 175 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 46 traits by best p-value, aggregated from 57 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/O75815 — 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/ENSG00000137936/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/BCAR3 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/BCAR3 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=BCAR3%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/BCAR3 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:16:24 · 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