CausalSentinel

Protein Dossier — F10 (Coagulation factor X)

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: K35 Acute appendicitis 0.38 0.0967 8.35e-05 Wald ratio 1 cis NA
Potassium in urine -0.0294 0.00988 0.00291 Wald ratio 1 cis NA
Body mass index (BMI) -0.0276 0.00973 0.00454 Wald ratio 1 cis NA
Non-cancer illness code self-reported: joint disorder 0.276 0.109 0.0116 Wald ratio 1 cis NA
Neuroticism 0.0219 0.00947 0.0207 Inverse variance weighted 2 trans NA
Neuroticism 0.0219 0.00947 0.0207 Inverse variance weighted 2 cis NA
Diagnoses - main ICD10: N81 Female genital prolapse -0.211 0.102 0.0381 Wald ratio 1 cis NA
Weight -0.0178 0.0086 0.0382 Wald ratio 1 cis NA
Non-cancer illness code self-reported: retinal detachment 0.272 0.132 0.0392 Wald ratio 1 cis NA
Triglycerides -0.0302 0.0159 0.0571 Wald ratio 1 cis NA
Amygdala volume -17.1 9.33 0.0664 Wald ratio 1 trans NA
HOMA-B -0.0325 0.0186 0.0801 Wald ratio 1 cis NA
…and 98 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

Dataset Trait Author Year
prot-c-3077_66_2 Coagulation Factor Xa Suhre K 2019
prot-c-4878_3_1 Coagulation Factor X Suhre K 2019

3. GWAS Catalog results — traits with signal at this locus

59 association rows across 28 traits (52 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
Protein Z-dependent protease inhibitor levels 4e-370 rs559054 2 GCST90249198 no MR -> candidate analysis
Dual specificity mitogen-activated protein kinase kinase 2 l 6e-259 rs559054 2 GCST90247301 no MR -> candidate analysis
F7 protein levels 7e-177 rs9549675 5 GCST90469171 no MR -> candidate analysis
F10 protein levels 2e-146 rs547138 5 GCST90469163 no MR -> candidate analysis
PROZ protein levels 1e-110 rs559054 3 GCST90453206 no MR -> candidate analysis
Protein Z-dependent protease inhibitor levels (SERPINA10.131 6e-100 rs559054 2 GCST90242530 no MR -> candidate analysis
Coagulation Factor VII levels 6e-65 rs474671 4 GCST90100839 no MR -> candidate analysis
Circulating F7 levels 2e-63 rs3212991 1 GCST90860440 no MR -> candidate analysis
Coagulation Factor X levels 2e-51 rs547138 2 GCST90247101 no MR -> candidate analysis
Coagulation factor Xa levels 8e-50 rs547138 5 GCST90247102 no MR -> candidate analysis
SERPINA10 protein levels 1e-38 rs559054 2 GCST90453399 no MR -> candidate analysis
Prothrombin time 7e-30 rs563964 4 GCST90104196 no MR -> candidate analysis
…and 16 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 628 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 X deficiency 0.96 established (curated) no MR -> candidate analysis
congenital factor X deficiency 0.819 established (curated) no MR -> candidate analysis
venous thromboembolism 0.832 common-variant locus no MR -> candidate analysis
pulmonary embolism 0.566 common-variant locus MR: beta=0.136, p=0.154 (cis)
atrial fibrillation 0.053 common-variant locus no MR -> candidate analysis
Thrombocytopenia 0.491 established (curated) no MR -> candidate analysis
Thromboembolism 0.317 common-variant locus no MR -> candidate analysis
blood coagulation disease 0.055 common-variant locus no MR -> candidate analysis
Abnormal bleeding 0.584 established (curated) no MR -> candidate analysis

Of the 9 rows above, 8 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 13 known modulators (Coagulation factor X)
gnomAD constraint pLI=1.8e-08, LOEUF=1.07 — LoF-tolerant
GWAS Catalog 111 unique SNPs / 260 rows
ClinVar 303 records; 8 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance