Protein Dossier — F7 (Coagulation factor VII)
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 |
| Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal |
0.0861 |
0.0291 |
0.00312 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms |
0.0692 |
0.0285 |
0.0154 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K40 Inguinal hernia |
0.0519 |
0.0218 |
0.0173 |
Wald ratio |
1 |
cis |
NA |
| High grade serous ovarian cancer |
0.0564 |
0.0261 |
0.0306 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: asthma |
0.0222 |
0.0103 |
0.0307 |
Wald ratio |
1 |
cis |
NA |
| Caudate volume |
15.3 |
7.15 |
0.0326 |
Wald ratio |
1 |
cis |
NA |
| Mean cell volume |
0.0905 |
0.0441 |
0.0402 |
Wald ratio |
1 |
cis |
NA |
| Hippocampus volume |
-13.9 |
6.85 |
0.0429 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) |
0.0511 |
0.0253 |
0.0433 |
Wald ratio |
1 |
cis |
NA |
| Small vessel disease |
0.11 |
0.0559 |
0.0493 |
Wald ratio |
1 |
cis |
NA |
| Coronary heart disease |
0.027 |
0.0138 |
0.0494 |
Wald ratio |
1 |
cis |
NA |
| Birth weight |
0.0115 |
0.00589 |
0.0507 |
Wald ratio |
1 |
cis |
NA |
| …and 104 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3184_25_2 |
Coagulation Factor VII |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
62 association rows across 36 traits (58 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 |
| F7/F9 protein level ratio |
2e-1816 |
rs1755685 |
1 |
GCST90314743 |
no MR -> candidate analysis |
| F7/PROC protein level ratio |
3e-1795 |
rs1755685 |
1 |
GCST90314744 |
no MR -> candidate analysis |
| Coagulation Factor VII levels |
3e-1503 |
rs3093253 |
10 |
GCST90247099 |
no MR -> candidate analysis |
| Circulating F7 levels |
6e-1440 |
rs493833 |
3 |
GCST90860440 |
no MR -> candidate analysis |
| Factor VII activity or levels |
7e-654 |
rs561241 |
1 |
GCST007402 |
no MR -> candidate analysis |
| Factor VII activity |
6e-600 |
rs569557 |
2 |
GCST007401 |
no MR -> candidate analysis |
| PT international normalized ratio (INR, minimum, inv-norm tr |
2e-297 |
rs6046 |
1 |
GCST90475395 |
no MR -> candidate analysis |
| prothrombin time (PT, mean, inv-norm transformed) |
2e-266 |
rs6046 |
2 |
GCST90480663 |
no MR -> candidate analysis |
| Factor VII levels |
2e-261 |
rs6046 |
2 |
GCST90132197 |
no MR -> candidate analysis |
| Prothrombin time |
5e-246 |
rs6041 |
4 |
GCST006017 |
no MR -> candidate analysis |
| prothrombin time (PT, maximum, inv-norm transformed) |
4e-221 |
rs6046 |
2 |
GCST90480662 |
no MR -> candidate analysis |
| PT international normalized ratio (INR, mean, inv-norm trans |
5e-202 |
rs6046 |
1 |
GCST90475392 |
no MR -> candidate analysis |
| …and 24 more traits (see JSON) |
|
|
|
|
|
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 608 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 VII deficiency |
0.98 |
— |
established (curated) |
no MR -> candidate analysis |
| congenital factor VII deficiency |
0.873 |
— |
established (curated) |
no MR -> candidate analysis |
| blood coagulation disease |
0.685 |
— |
common-variant locus |
no MR -> candidate analysis |
| Abnormality of coagulation |
0.717 |
— |
established (curated) |
no MR -> candidate analysis |
| Abnormal bleeding |
0.63 |
— |
established (curated) |
no MR -> candidate analysis |
| coagulation protein disease |
0.503 |
— |
common-variant locus |
no MR -> candidate analysis |
| open-angle glaucoma |
0.592 |
— |
common-variant locus |
no MR -> candidate analysis |
| glaucoma |
0.592 |
— |
common-variant locus |
MR: beta=0.0264, p=0.388 (cis) |
| response to xenobiotic stimulus |
0.459 |
— |
common-variant locus |
no MR -> candidate analysis |
| venous thromboembolism |
0.423 |
— |
common-variant locus |
no MR -> candidate analysis |
| hereditary disease |
0.317 |
— |
established (curated) |
no MR -> candidate analysis |
| hemophilia |
0.195 |
— |
established (curated) |
no MR -> candidate analysis |
| Thrombocytopenia |
0.182 |
— |
established (curated) |
no MR -> candidate analysis |
| deep vein thrombosis |
0.102 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 14 rows above, 13 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=5.1e-11, LOEUF=1.05 — LoF-tolerant |
| GWAS Catalog |
113 unique SNPs / 250 rows |
| ClinVar |
488 records; 5 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 608 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 488 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 36 traits by best p-value, aggregated from 62 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/P08709 — 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/ENSG00000057593/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/F7 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/F7 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=F7%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/F7 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:32:06 · 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: chembl