Protein Dossier — F11 (Coagulation factor XI)
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: hypopituitarism |
0.382 |
0.131 |
0.00356 |
Inverse variance weighted |
2 |
trans |
NA |
| Non-cancer illness code self-reported: hypopituitarism |
0.382 |
0.131 |
0.00356 |
Inverse variance weighted |
2 |
cis |
NA |
| Eczema |
0.066 |
0.0245 |
0.00717 |
Inverse variance weighted |
2 |
trans |
NA |
| Eczema |
0.066 |
0.0245 |
0.00717 |
Inverse variance weighted |
2 |
cis |
NA |
| Years of schooling |
0.014 |
0.00562 |
0.0124 |
Inverse variance weighted |
2 |
trans |
NA |
| Years of schooling |
0.014 |
0.00562 |
0.0124 |
Inverse variance weighted |
2 |
cis |
NA |
| Diagnoses - main ICD10: I80 Phlebitis and thrombophlebitis |
0.252 |
0.107 |
0.0181 |
Inverse variance weighted |
2 |
trans |
NA |
| Diagnoses - main ICD10: I80 Phlebitis and thrombophlebitis |
0.252 |
0.107 |
0.0181 |
Inverse variance weighted |
2 |
cis |
NA |
| Paget’s disease |
0.201 |
0.0877 |
0.0219 |
Inverse variance weighted |
2 |
trans |
NA |
| Paget’s disease |
0.201 |
0.0877 |
0.0219 |
Inverse variance weighted |
2 |
cis |
NA |
| Vascular or heart problems diagnosed by doctor: Angina |
-0.0445 |
0.0203 |
0.0289 |
Inverse variance weighted |
2 |
trans |
NA |
| Vascular or heart problems diagnosed by doctor: Angina |
-0.0445 |
0.0203 |
0.0289 |
Inverse variance weighted |
2 |
cis |
NA |
| …and 185 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2190_55_1 |
Coagulation Factor XI |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
180 association rows across 88 traits (148 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 XI levels |
2e-272 |
rs2289252 |
6 |
GCST90247103 |
no MR -> candidate analysis |
| Venous thromboembolism |
4e-256 |
rs3756011 |
15 |
GCST90797305 |
no MR -> candidate analysis |
| Venous thromboembolism or factor XI levels (pleiotropy) |
1e-251 |
rs3756011 |
1 |
GCST90129538 |
no MR -> candidate analysis |
| Fibrinogen levels or factor VII levels or factor XI levels o |
4e-199 |
rs4253417 |
1 |
GCST90129560 |
no MR -> candidate analysis |
| Ischemic stroke or factor XI levels (pleiotropy) |
1e-197 |
rs4253417 |
1 |
GCST90129552 |
no MR -> candidate analysis |
| Factor XI |
3e-193 |
rs4253417 |
1 |
GCST004124 |
no MR -> candidate analysis |
| Coronary artery disease or factor XI levels (pleiotropy) |
9e-189 |
rs4253417 |
1 |
GCST90129545 |
no MR -> candidate analysis |
| Vertex-wise sulcal depth |
3e-139 |
rs62348889 |
2 |
GCST90095129 |
no MR -> candidate analysis |
| Other venous embolism and thrombosis (PheCode 452) |
8e-127 |
rs3756011 |
3 |
GCST90476007 |
no MR -> candidate analysis |
| Serum levels of protein F11 |
7e-125 |
rs2289252 |
2 |
GCST90087924 |
no MR -> candidate analysis |
| F11 protein levels |
8e-125 |
rs6848311 |
10 |
GCST90469165 |
no MR -> candidate analysis |
| Deep vein thrombosis [DVT] (PheCode 452.2) |
6e-98 |
rs4444878 |
2 |
GCST90476010 |
no MR -> candidate analysis |
| …and 76 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 306 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 |
| factor XI deficiency |
0.964 |
0.901 |
established (curated) |
no MR -> candidate analysis |
| congenital factor XI deficiency |
0.877 |
— |
established (curated) |
no MR -> candidate analysis |
| venous thromboembolism |
0.922 |
— |
common-variant locus |
no MR -> candidate analysis |
| deep vein thrombosis |
0.901 |
— |
common-variant locus |
no MR -> candidate analysis |
| pulmonary embolism |
0.888 |
— |
common-variant locus |
MR: beta=0.237, p=0.102 (trans) |
| heart disorder |
0.878 |
— |
common-variant locus |
no MR -> candidate analysis |
| phlebitis |
0.876 |
— |
common-variant locus |
MR: beta=0.252, p=0.0181 (trans) |
| Thrombophlebitis |
0.869 |
— |
common-variant locus |
MR: beta=0.252, p=0.0181 (trans) |
| cardiovascular disorder |
0.827 |
— |
common-variant locus |
no MR -> candidate analysis |
| Thromboembolism |
0.819 |
— |
common-variant locus |
no MR -> candidate analysis |
| ischemic stroke |
0.777 |
— |
common-variant locus |
MR: beta=0.0396, p=0.0952 (trans) |
| Abnormal bleeding |
0.803 |
— |
established (curated) |
no MR -> candidate analysis |
| Pulmonary Infarction |
0.801 |
— |
common-variant locus |
no MR -> candidate analysis |
| thrombophilia |
0.781 |
— |
common-variant locus |
no MR -> candidate analysis |
| hereditary disease |
0.772 |
— |
established (curated) |
no MR -> candidate analysis |
Of the 15 rows above, 11 have no MR estimate in this resource. Across all retrieved diseases for this gene: 1 exploratory rare-variant signal(s), 1 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 |
4 known modulators (Coagulation factor XI) |
| gnomAD constraint |
pLI=1.8e-27, LOEUF=1.23 — LoF-tolerant |
| GWAS Catalog |
128 unique SNPs / 302 rows |
| ClinVar |
972 records; 23 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
1 clinical annotations across 1 drugs |
phenome — Top 30 of 306 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘F11’ and resolved to ‘Coagulation factor XI’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 972 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 88 traits by best p-value, aggregated from 180 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/P03951 — 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/ENSG00000088926/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2820/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/F11 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/F11 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=F11%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=F11 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/F11 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:30:52 · 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