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 |
|---|---|---|---|---|---|---|---|
| Systolic blood pressure automated reading | -0.0227 | 0.00442 | 2.75e-07 | Wald ratio | 1 | cis | NA |
| Forearm bone mineral density | -0.133 | 0.0283 | 2.47e-06 | Wald ratio | 1 | cis | NA |
| Diastolic blood pressure automated reading | -0.0177 | 0.00442 | 6.28e-05 | Wald ratio | 1 | cis | NA |
| Lumbar spine bone mineral density | -0.0569 | 0.0155 | 2.50e-04 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K40 Inguinal hernia | 0.0753 | 0.0245 | 0.00211 | Wald ratio | 1 | cis | NA |
| Femoral neck bone mineral density | -0.0367 | 0.0133 | 0.00589 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hayfever or allergic rhinitis | -0.0498 | 0.0187 | 0.00766 | Wald ratio | 1 | cis | NA |
| Forced vital capacity (FVC) | 0.00928 | 0.00354 | 0.00884 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I80 Phlebitis and thrombophlebitis | -0.202 | 0.0779 | 0.00936 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: asthma | -0.0314 | 0.0125 | 0.0119 | Wald ratio | 1 | cis | NA |
| HDL cholesterol | -0.0209 | 0.00855 | 0.0144 | Wald ratio | 1 | cis | NA |
| Fractured or broken bones in last 5 years | 0.0318 | 0.013 | 0.0149 | Wald ratio | 1 | cis | NA |
| …and 110 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
209 association rows across 104 traits (201 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 |
|---|---|---|---|---|---|
| Complement factor H-related protein 1 levels | 4e-993 | rs67908756 | 3 | GCST90246993 | no MR -> candidate analysis |
| Complement factor H-related protein 4 levels | 8e-666 | rs4915363 | 4 | GCST90246995 | no MR -> candidate analysis |
| Alpha-N-acetylglucosaminidase levels | 2e-428 | rs67908756 | 1 | GCST90248587 | no MR -> candidate analysis |
| Age-related macular degeneration (MTAG) | 6e-414 | rs7542235 | 1 | GCST010284 | no MR -> candidate analysis |
| CFHR5 plasma levels | 3e-396 | rs10737681 | 1 | GCST90244658 | no MR -> candidate analysis |
| Blood protein levels | 7e-381 | rs57809726 | 65 | GCST006585 | no MR -> candidate analysis |
| Leucine-rich repeat-containing protein 19 levels (LRRC19.701 | 1e-307 | rs7519758 | 2 | GCST90241776 | no MR -> candidate analysis |
| Age-related macular degeneration or COVID-19 critical illnes | 4e-291 | rs60642321 | 1 | GCST90250832 | no MR -> candidate analysis |
| Age-related macular degeneration or COVID-19 infection (MTAG | 8e-291 | rs60642321 | 1 | GCST90250834 | no MR -> candidate analysis |
| Age-related macular degeneration or COVID-19 hospitalization | 9e-291 | rs60642321 | 1 | GCST90250833 | no MR -> candidate analysis |
| CFHR2 protein levels | 1e-275 | rs61820760 | 8 | GCST90468726 | no MR -> candidate analysis |
| CFHR4 protein levels | 3e-268 | rs184080912 | 10 | GCST90468727 | no MR -> candidate analysis |
| …and 92 more traits (see JSON) |
Top diseases by Open Targets association (of 72 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 |
|---|---|---|---|---|
| age-related macular degeneration | 0.634 | — | established (curated) | no MR -> candidate analysis |
| retinal disorder | 0.676 | — | common-variant locus | no MR -> candidate analysis |
| macular degeneration | 0.665 | — | common-variant locus | no MR -> candidate analysis |
| placental abruption | 0.388 | — | common-variant locus | no MR -> candidate analysis |
| kidney disorder | 0.198 | — | established (curated) | no MR -> candidate analysis |
| degeneration of macula and posterior pole | 0.158 | — | common-variant locus | no MR -> candidate analysis |
| COVID-19 | 0.15 | — | common-variant locus | no MR -> candidate analysis |
| meningococcal infection | 0.084 | — | common-variant locus | no MR -> candidate analysis |
| wet macular degeneration | 0.072 | — | common-variant locus | no MR -> candidate analysis |
| Visual impairment | 0.058 | — | common-variant locus | no MR -> candidate analysis |
| lymphatic system disorder | 0.056 | — | common-variant locus | no MR -> candidate analysis |
| maculopapular eruption | 0.045 | — | common-variant locus | no MR -> candidate analysis |
| retinitis pigmentosa | 0.045 | — | common-variant locus | no MR -> candidate analysis |
| hypotensive disorder | 0.033 | — | common-variant locus | no MR -> candidate analysis |
| heart disorder | 0.031 | — | 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=1.5e-20, LOEUF=1.14 — LoF-tolerant |
| GWAS Catalog | 128 unique SNPs / 330 rows |
| ClinVar | 247 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | 1 clinical annotations across 1 drugs |
phenome — Top 30 of 72 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 ‘CFHR4’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 247 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 104 traits by best p-value, aggregated from 209 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/Q92496 — 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/ENSG00000134365/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CFHR4 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CFHR4 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CFHR4%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=CFHR4 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/CFHR4 — GWAS Catalog search API (live; release not exposed)