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 |
|---|---|---|---|---|---|---|---|
| Forearm bone mineral density | 0.0496 | 0.0173 | 0.00406 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Glaucoma | -0.0658 | 0.0252 | 0.00908 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: B37 Candidiasis | 0.271 | 0.105 | 0.0095 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: osteoporosis | -0.0599 | 0.0242 | 0.0135 | Wald ratio | 1 | cis | NA |
| IgA nephropathy | 0.228 | 0.0982 | 0.0202 | Wald ratio | 1 | cis | NA |
| Clear cell ovarian cancer | 0.108 | 0.0466 | 0.0205 | Wald ratio | 1 | cis | NA |
| Lung adenocarcinoma | 0.0649 | 0.0282 | 0.0214 | Wald ratio | 1 | cis | NA |
| Systemic lupus erythematosus | 0.118 | 0.0519 | 0.0232 | Wald ratio | 1 | cis | NA |
| Alzheimer’s disease | 0.0422 | 0.0186 | 0.0235 | Wald ratio | 1 | cis | NA |
| Forced vital capacity (FVC) | 0.00523 | 0.00233 | 0.025 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Wrist | -0.0474 | 0.0213 | 0.026 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K40 Inguinal hernia | -0.0399 | 0.0181 | 0.0275 | Wald ratio | 1 | cis | NA |
| …and 95 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
148 association rows across 93 traits (144 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 | 4 | GCST90246993 | 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 | 30 | 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 |
| CFHR4 protein levels | 3e-268 | rs184080912 | 4 | GCST90468727 | no MR -> candidate analysis |
| Serum levels of protein CFHR4 | 2e-246 | rs7413610 | 1 | GCST90089450 | no MR -> candidate analysis |
| Serum levels of protein HPX | 4e-228 | rs6679884 | 1 | GCST90088060 | no MR -> candidate analysis |
| …and 81 more traits (see JSON) |
Top diseases by Open Targets association (of 301 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 | 0.426 | — | established (curated) | no MR -> candidate analysis |
| C3 glomerulonephritis | 0.608 | — | established (curated) | no MR -> candidate analysis |
| dense deposit disease | 0.608 | — | established (curated) | no MR -> candidate analysis |
| atypical hemolytic-uremic syndrome with I factor anomaly | 0.559 | — | established (curated) | no MR -> candidate analysis |
| degeneration of macula and posterior pole | 0.575 | — | common-variant locus | no MR -> candidate analysis |
| macular degeneration | 0.553 | — | common-variant locus | no MR -> candidate analysis |
| COVID-19 | 0.345 | — | common-variant locus | no MR -> candidate analysis |
| chronic kidney disease | 0.265 | — | established (curated) | no MR -> candidate analysis |
| meningococcal infection | 0.252 | — | common-variant locus | no MR -> candidate analysis |
| retinal disorder | 0.24 | — | common-variant locus | no MR -> candidate analysis |
| wet macular degeneration | 0.193 | — | common-variant locus | no MR -> candidate analysis |
| cerebral amyloid angiopathy, APP-related | 0.195 | — | established (curated) | no MR -> candidate analysis |
| IgA glomerulonephritis | 0.105 | — | common-variant locus | no MR -> candidate analysis |
| kidney disorder | 0.066 | — | established (curated) | no MR -> candidate analysis |
Of the 14 rows above, 14 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=3.6e-06, LOEUF=1.03 — LoF-tolerant |
| GWAS Catalog | 136 unique SNPs / 328 rows |
| ClinVar | 189 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 301 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 ‘CFHR1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 189 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 93 traits by best p-value, aggregated from 148 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/Q03591 — 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/ENSG00000244414/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CFHR1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CFHR1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CFHR1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CFHR1 — GWAS Catalog search API (live; release not exposed)