Protein Dossier — FCN3 (Ficolin-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 |
| Non-cancer illness code self-reported: hypertension |
0.0475 |
0.00984 |
1.37e-06 |
Wald ratio |
1 |
cis |
NA |
| Heel bone mineral density (BMD) T-score automated |
-0.0238 |
0.00783 |
0.00242 |
Wald ratio |
1 |
cis |
NA |
| Alcohol intake frequency |
0.0252 |
0.00895 |
0.00485 |
Wald ratio |
1 |
cis |
NA |
| Systolic blood pressure automated reading |
0.0173 |
0.00618 |
0.00504 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R55 Syncope and collapse |
0.143 |
0.0558 |
0.0104 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: osteoporosis |
0.111 |
0.0436 |
0.011 |
Wald ratio |
1 |
cis |
NA |
| Serum creatinine (eGFRcrea) |
0.00517 |
0.00209 |
0.0136 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I48 Atrial fibrillation and flutter |
0.12 |
0.051 |
0.019 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: depression |
-0.0622 |
0.0266 |
0.0192 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M72 Fibroblastic disorders |
-0.245 |
0.107 |
0.0216 |
Wald ratio |
1 |
cis |
NA |
| Fasting insulin |
0.0154 |
0.0067 |
0.0219 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm) |
0.573 |
0.258 |
0.0265 |
Wald ratio |
1 |
cis |
NA |
| …and 108 more outcomes (see JSON) |
|
|
|
|
|
|
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3811_1_2 |
Ficolin-3 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
13 association rows across 9 traits (13 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 |
| Ficolin-3 levels |
7e-186 |
rs532781899 |
4 |
GCST90247616 |
no MR -> candidate analysis |
| Circulating MASP1 levels |
1e-129 |
rs58337722 |
2 |
GCST90860240 |
no MR -> candidate analysis |
| MASP1 protein levels |
1e-51 |
rs141300199 |
1 |
GCST90469863 |
no MR -> candidate analysis |
| Ficolin-3 level in Chronic kidney disease with hypertension |
8e-27 |
rs72882750 |
1 |
GCST90237943 |
no MR -> candidate analysis |
| Ficolin-3 level in Chronic kidney disease with hypertension |
1e-20 |
rs72882750 |
1 |
GCST90234172 |
no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) |
3e-20 |
rs28385651 |
1 |
GCST90838669 |
no MR -> candidate analysis |
| Mannan-binding lectin serine protease 1 levels |
8e-14 |
rs28357092 |
1 |
GCST90161850 |
no MR -> candidate analysis |
| NPTX1 protein levels |
5e-12 |
rs141300199 |
1 |
GCST90470078 |
no MR -> candidate analysis |
| FCN3 protein levels |
4e-9 |
rs10794501 |
1 |
GCST90453028 |
no MR -> candidate analysis |
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 232 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 |
| immunodeficiency due to ficolin3 deficiency |
0.607 |
— |
established (curated) |
no MR -> candidate analysis |
| rheumatic heart disease |
0.35 |
— |
established (curated) |
no MR -> candidate analysis |
| microcephaly |
0.182 |
— |
established (curated) |
no MR -> candidate analysis |
| gout |
0.127 |
— |
common-variant locus |
no MR -> candidate analysis |
| hypertensive disorder |
0.091 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 5 rows above, 5 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=2.9e-09, LOEUF=1.22 — LoF-tolerant |
| GWAS Catalog |
37 unique SNPs / 74 rows |
| ClinVar |
93 records; 4 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 232 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 ‘FCN3’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 93 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 9 of 9 traits by best p-value, aggregated from 13 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/O75636 — 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/ENSG00000142748/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/FCN3 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/FCN3 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=FCN3%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/FCN3 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:38:34 · 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