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 |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) |
-0.0996 |
0.0334 |
0.0029 |
Inverse variance weighted |
2 |
cis |
NA |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) |
-0.0996 |
0.0334 |
0.0029 |
Inverse variance weighted |
2 |
trans |
NA |
| Diagnoses - main ICD10: R55 Syncope and collapse |
0.111 |
0.0405 |
0.00624 |
Inverse variance weighted |
2 |
cis |
NA |
| Diagnoses - main ICD10: R55 Syncope and collapse |
0.111 |
0.0405 |
0.00624 |
Inverse variance weighted |
2 |
trans |
NA |
| Diagnoses - main ICD10: K57 Diverticular disease of intestine |
0.0711 |
0.028 |
0.0109 |
Inverse variance weighted |
2 |
cis |
NA |
| Diagnoses - main ICD10: K57 Diverticular disease of intestine |
0.0711 |
0.028 |
0.0109 |
Inverse variance weighted |
2 |
trans |
NA |
| Diagnoses - main ICD10: I80 Phlebitis and thrombophlebitis |
-0.158 |
0.0736 |
0.0314 |
Inverse variance weighted |
2 |
cis |
NA |
| Diagnoses - main ICD10: I80 Phlebitis and thrombophlebitis |
-0.158 |
0.0736 |
0.0314 |
Inverse variance weighted |
2 |
trans |
NA |
| Vascular or heart problems diagnosed by doctor: Angina |
0.0445 |
0.0229 |
0.0515 |
Inverse variance weighted |
2 |
cis |
NA |
| Vascular or heart problems diagnosed by doctor: Angina |
0.0445 |
0.0229 |
0.0515 |
Inverse variance weighted |
2 |
trans |
NA |
| Diagnoses - main ICD10: M23 Internal derangement of knee |
-0.0593 |
0.0305 |
0.0516 |
Inverse variance weighted |
2 |
cis |
NA |
| Diagnoses - main ICD10: M23 Internal derangement of knee |
-0.0593 |
0.0305 |
0.0516 |
Inverse variance weighted |
2 |
trans |
NA |
| …and 86 more outcomes (see JSON) |
|
|
|
|
|
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|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3666_17_4 |
complement factor H-related 5 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
65 association rows across 33 traits (61 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 |
| Coagulation factor XIII levels |
8e-391 |
rs10922151 |
3 |
GCST90247104 |
no MR -> candidate analysis |
| Platelet-derived growth factor receptor alpha levels |
4e-385 |
rs79801780 |
2 |
GCST90248912 |
no MR -> candidate analysis |
| CFHR5 protein levels |
2e-305 |
rs34187357 |
3 |
GCST90468728 |
no MR -> candidate analysis |
| Serum levels of protein PDGFRA |
1e-256 |
rs35662416 |
1 |
GCST90086244 |
no MR -> candidate analysis |
| Age-related macular degeneration (MTAG) |
2e-157 |
rs12116643 |
1 |
GCST010284 |
no MR -> candidate analysis |
| Complement factor H-related protein 5 levels |
2e-146 |
rs79801780 |
5 |
GCST90246996 |
no MR -> candidate analysis |
| F13B protein levels |
5e-142 |
rs115844193 |
7 |
GCST90469167 |
no MR -> candidate analysis |
| Platelet-derived growth factor receptor alpha levels (PDGFRA |
4e-121 |
rs35662416 |
1 |
GCST90242290 |
no MR -> candidate analysis |
| Serum levels of protein F13B |
2e-106 |
rs10801583 |
1 |
GCST90089128 |
no MR -> candidate analysis |
| Coagulation factor XIII B chain levels |
6e-86 |
rs10801582 |
2 |
GCST90247105 |
no MR -> candidate analysis |
| CFHR4 protein levels |
8e-78 |
rs115988764 |
4 |
GCST90468727 |
no MR -> candidate analysis |
| Serum levels of protein CFHR5 |
2e-75 |
rs35662416 |
1 |
GCST90088484 |
no MR -> candidate analysis |
| …and 21 more traits (see JSON) |
|
|
|
|
|
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 143 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 |
| C3 glomerulonephritis |
0.709 |
— |
established (curated) |
no MR -> candidate analysis |
| chronic kidney disease |
0.243 |
— |
established (curated) |
no MR -> candidate analysis |
| primary membranoproliferative glomerulonephritis |
0.688 |
— |
established (curated) |
no MR -> candidate analysis |
| age-related macular degeneration |
0.723 |
— |
common-variant locus |
no MR -> candidate analysis |
| macular degeneration |
0.759 |
— |
common-variant locus |
no MR -> candidate analysis |
| retinal disorder |
0.597 |
— |
common-variant locus |
no MR -> candidate analysis |
| degeneration of macula and posterior pole |
0.469 |
— |
common-variant locus |
no MR -> candidate analysis |
| placental retention |
0.458 |
— |
common-variant locus |
no MR -> candidate analysis |
| lymphatic system disorder |
0.394 |
— |
common-variant locus |
no MR -> candidate analysis |
| dense deposit disease |
0.316 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary disease |
0.317 |
— |
established (curated) |
no MR -> candidate analysis |
| atypical hemolytic-uremic syndrome |
0.286 |
— |
established (curated) |
no MR -> candidate analysis |
| dry age related macular degeneration |
0.199 |
— |
common-variant locus |
no MR -> candidate analysis |
| wet macular degeneration |
0.114 |
— |
common-variant locus |
no MR -> candidate analysis |
| kidney disorder |
0.018 |
— |
established (curated) |
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.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
not available — no ChEMBL target (undrugged) |
| gnomAD constraint |
pLI=1e-28, LOEUF=1.41 — LoF-tolerant |
| GWAS Catalog |
109 unique SNPs / 250 rows |
| ClinVar |
402 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 143 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 ‘CFHR5’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 402 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 33 traits by best p-value, aggregated from 65 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/Q9BXR6 — 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/ENSG00000134389/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CFHR5 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CFHR5 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CFHR5%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CFHR5 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:48:33 · 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