Protein Dossier — FCN1 (Ficolin-1)
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 |
| Mean cell haemoglobin concentration |
-0.0261 |
0.00772 |
7.31e-04 |
Wald ratio |
1 |
cis |
NA |
| Femoral neck bone mineral density |
0.0434 |
0.015 |
0.00376 |
Wald ratio |
1 |
cis |
NA |
| Schizophrenia |
0.0558 |
0.0203 |
0.00589 |
Wald ratio |
1 |
cis |
NA |
| HOMA-IR |
0.024 |
0.00875 |
0.00605 |
Wald ratio |
1 |
cis |
NA |
| Fasting insulin |
0.0161 |
0.00686 |
0.0188 |
Wald ratio |
1 |
cis |
NA |
| Transferrin |
0.0477 |
0.0213 |
0.025 |
Wald ratio |
1 |
cis |
NA |
| HOMA-B |
0.016 |
0.00721 |
0.0268 |
Wald ratio |
1 |
cis |
NA |
| Transferrin Saturation |
-0.0441 |
0.0209 |
0.0352 |
Wald ratio |
1 |
cis |
NA |
| Melanoma |
-0.213 |
0.103 |
0.0383 |
Wald ratio |
1 |
cis |
NA |
| Primary sclerosing cholangitis |
-0.126 |
0.0618 |
0.0419 |
Wald ratio |
1 |
cis |
NA |
| Amyotrophic lateral sclerosis |
-0.0686 |
0.0347 |
0.0477 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertension |
0.0152 |
0.00786 |
0.0527 |
Wald ratio |
1 |
cis |
NA |
| …and 93 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3613_62_5 |
FCN1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
114 association rows across 48 traits (103 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 |
| FCN1 protein levels |
3e-293 |
rs150625869 |
19 |
GCST90469203 |
no MR -> candidate analysis |
| FCN2 protein levels |
9e-173 |
rs3012792 |
28 |
GCST90469204 |
no MR -> candidate analysis |
| Semaphorin-4A levels |
3e-161 |
rs11103604 |
2 |
GCST90249488 |
no MR -> candidate analysis |
| Ficolin-1 levels (FCN1.3613.62.5) |
2e-106 |
rs11103602 |
2 |
GCST90241184 |
no MR -> candidate analysis |
| Ficolin-2 levels |
3e-106 |
rs75430132 |
2 |
GCST90247615 |
no MR -> candidate analysis |
| Serum levels of protein FCN1 |
3e-98 |
rs7873100 |
2 |
GCST90088459 |
no MR -> candidate analysis |
| Blood protein levels |
4e-66 |
rs11103604 |
1 |
GCST006585 |
no MR -> candidate analysis |
| Ficolin-1 levels |
1e-64 |
rs11103604 |
7 |
GCST90161856 |
no MR -> candidate analysis |
| Kidney-associated antigen 1 levels |
3e-43 |
rs1038193 |
2 |
GCST90248152 |
no MR -> candidate analysis |
| Circulating TNFRSF10C levels |
1e-26 |
rs10858304 |
1 |
GCST90859942 |
no MR -> candidate analysis |
| Neutrophil count |
1e-24 |
rs1038193 |
3 |
GCST90002351 |
no MR -> candidate analysis |
| White blood cell count |
5e-22 |
rs1038193 |
5 |
GCST90002374 |
no MR -> candidate analysis |
| …and 36 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 256 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 |
| ovarian neoplasm |
0.521 |
— |
common-variant locus |
no MR -> candidate analysis |
| insomnia |
0.502 |
— |
common-variant locus |
no MR -> candidate analysis |
| musculoskeletal system disorder |
0.5 |
— |
common-variant locus |
no MR -> candidate analysis |
| major depressive disorder |
0.476 |
— |
common-variant locus |
MR: beta=0.0752, p=0.0632 (cis) |
| gestational diabetes |
0.469 |
— |
common-variant locus |
no MR -> candidate analysis |
| contact dermatitis |
0.438 |
— |
common-variant locus |
no MR -> candidate analysis |
| temporomandibular joint disorder |
0.057 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 7 rows above, 6 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=6e-17, LOEUF=1.53 — LoF-tolerant |
| GWAS Catalog |
132 unique SNPs / 292 rows |
| ClinVar |
129 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 256 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 ‘FCN1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 129 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 48 traits by best p-value, aggregated from 114 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/O00602 — 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/ENSG00000085265/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/FCN1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/FCN1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=FCN1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/FCN1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:37:59 · 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