Protein Dossier — CFB (Complement factor B)
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 |
| Forearm bone mineral density |
0.302 |
0.0674 |
7.29e-06 |
Wald ratio |
1 |
trans |
NA |
| Systolic blood pressure automated reading |
0.0351 |
0.0105 |
8.19e-04 |
Wald ratio |
1 |
trans |
NA |
| Schizophrenia |
-0.143 |
0.0444 |
0.00126 |
Wald ratio |
1 |
trans |
NA |
| Lumbar spine bone mineral density |
0.116 |
0.037 |
0.00178 |
Wald ratio |
1 |
trans |
NA |
| Femoral neck bone mineral density |
0.0863 |
0.0318 |
0.00657 |
Wald ratio |
1 |
trans |
NA |
| Clear cell ovarian cancer |
0.449 |
0.168 |
0.00763 |
Wald ratio |
1 |
trans |
NA |
| PGC cross-disorder traits |
-0.132 |
0.0522 |
0.0113 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: I84 Haemorrhoids |
-0.199 |
0.081 |
0.0141 |
Wald ratio |
1 |
trans |
NA |
| Diastolic blood pressure automated reading |
0.0255 |
0.0105 |
0.015 |
Wald ratio |
1 |
trans |
NA |
| HDL cholesterol |
0.0512 |
0.0211 |
0.0154 |
Wald ratio |
1 |
trans |
NA |
| Forced vital capacity (FVC) |
-0.0198 |
0.00841 |
0.0185 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: K40 Inguinal hernia |
-0.177 |
0.0753 |
0.0185 |
Wald ratio |
1 |
trans |
NA |
| …and 109 more outcomes (see JSON) |
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|
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4129_72_1 |
Factor B |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
106 association rows across 88 traits (97 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 |
| Neutrophil collagenase levels (MMP8.2954.56.2) |
1e-283 |
rs12614 |
1 |
GCST90242099 |
no MR -> candidate analysis |
| Complement factor B levels |
6e-248 |
rs641153 |
4 |
GCST90246990 |
no MR -> candidate analysis |
| Systemic lupus erythematosus |
2e-165 |
rs1270942 |
1 |
GCST003155 |
no MR -> candidate analysis |
| CFP protein levels |
5e-152 |
rs4151667 |
1 |
GCST90468731 |
no MR -> candidate analysis |
| Blood protein levels |
2e-126 |
rs4151671 |
9 |
GCST006585 |
no MR -> candidate analysis |
| Neuregulin-1, sensory and motor neuron-derived factor isofor |
7e-115 |
rs12614 |
1 |
GCST90234377 |
no MR -> candidate analysis |
| Neuregulin-1, sensory and motor neuron-derived factor isofor |
1e-107 |
rs12614 |
2 |
GCST90422668 |
no MR -> candidate analysis |
| CD5/TNFRSF9 protein level ratio |
7e-105 |
rs1270942 |
1 |
GCST90313862 |
no MR -> candidate analysis |
| Primary sclerosing cholangitis (MTAG) |
4e-89 |
rs2072633 |
1 |
GCST90271580 |
no MR -> candidate analysis |
| Neutrophil collagenase level in Chronic kidney disease with |
2e-81 |
rs12614 |
1 |
GCST90237163 |
no MR -> candidate analysis |
| Complement factor B levels (CFB.4129.72.1) |
6e-53 |
rs4151667 |
1 |
GCST90240778 |
no MR -> candidate analysis |
| Trimeric intracellular cation channel type B level in Chroni |
2e-44 |
rs12614 |
1 |
GCST90239379 |
no MR -> candidate analysis |
| …and 76 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 647 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 |
| atypical hemolytic-uremic syndrome with B factor anomaly |
0.876 |
— |
established (curated) |
no MR -> candidate analysis |
| atypical hemolytic-uremic syndrome |
0.876 |
— |
established (curated) |
no MR -> candidate analysis |
| Immunodeficiency due to a complement cascade protein anomaly |
0.766 |
— |
established (curated) |
no MR -> candidate analysis |
| atypical hemolytic uremic syndrome with complement gene abnormality |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| ankylosing spondylitis |
0.366 |
0.366 |
exploratory rare-variant signal |
no MR -> candidate analysis |
| hereditary disease |
0.317 |
— |
established (curated) |
no MR -> candidate analysis |
| macular degeneration |
0.312 |
— |
established (curated) |
no MR -> candidate analysis |
| iridocyclitis |
0.177 |
0.177 |
exploratory rare-variant signal |
no MR -> candidate analysis |
| type 1 diabetes mellitus |
0.152 |
0.152 |
exploratory rare-variant signal |
no MR -> candidate analysis |
Of the 9 rows above, 9 have no MR estimate in this resource. Across all retrieved diseases for this gene: 3 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 |
2 known modulators (Complement factor B) |
| gnomAD constraint |
pLI=2.2e-11, LOEUF=0.754 — LoF-tolerant |
| GWAS Catalog |
325 unique SNPs / 800 rows |
| ClinVar |
666 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 647 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 ‘CFB’ and resolved to ‘Complement factor B’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 666 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 88 traits by best p-value, aggregated from 106 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/P00751 — 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/ENSG00000243649/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5731/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CFB — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CFB — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CFB%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CFB — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:47:26 · 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