CausalSentinel

Protein Dossier — PF4V1 (Platelet factor 4 variant)

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
Forced expiratory volume in 1-second (FEV1) 0.0138 0.00463 0.00295 Wald ratio 1 cis NA
Non-cancer illness code self-reported: enlarged prostate 0.117 0.0407 0.00405 Wald ratio 1 cis NA
Fasting glucose 0.0223 0.0083 0.0073 Wald ratio 1 cis NA
Hearing difficulty or problems: Yes -0.0243 0.00946 0.0103 Wald ratio 1 cis NA
Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms -0.111 0.0487 0.0229 Wald ratio 1 cis NA
Birth length 0.0514 0.0229 0.0246 Wald ratio 1 cis NA
Non-cancer illness code self-reported: bladder problem (not cancer) 0.138 0.0614 0.0249 Wald ratio 1 cis NA
Forced vital capacity (FVC) 0.00952 0.00439 0.0302 Wald ratio 1 cis NA
Ferritin -0.0454 0.0211 0.0313 Wald ratio 1 cis NA
Diagnoses - main ICD10: C50 Malignant neoplasm of breast 0.0745 0.0389 0.0553 Wald ratio 1 cis NA
Transferrin 0.0413 0.0231 0.0735 Wald ratio 1 cis NA
Putamen volume -23.5 13.3 0.0767 Wald ratio 1 cis NA
…and 80 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).

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

112 association rows across 55 traits (110 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
Circulating CXCL1 levels (id: OID00404_OID20762) 1e-1222 rs74544699 1 GCST90859766 no MR -> candidate analysis
Circulating CXCL1 levels (id: OID00496_OID20762) 6e-1103 rs74544699 1 GCST90859853 no MR -> candidate analysis
Circulating CXCL1 levels (id: OID00786_OID20762) 5e-1070 rs74544699 1 GCST90860118 no MR -> candidate analysis
Blood protein levels 2e-250 rs872914 49 GCST006585 no MR -> candidate analysis
C-X-C motif chemokine 1 levels 9e-212 rs3117604 2 GCST90012019 no MR -> candidate analysis
Growth-regulated alpha protein levels 2e-204 rs3117604 5 GCST90161572 no MR -> candidate analysis
Serum levels of protein SLC3A2 2e-169 rs61360774 1 GCST90089635 no MR -> candidate analysis
Serum levels of protein PF4V1 2e-164 rs61360774 1 GCST90089132 no MR -> candidate analysis
CXCL1 protein levels 3e-133 rs115711101 2 GCST90468930 no MR -> candidate analysis
Serum levels of protein EMC1 1e-125 rs2233654 1 GCST90086898 no MR -> candidate analysis
Serum levels of protein TNFAIP8 5e-125 rs2233654 1 GCST90087071 no MR -> candidate analysis
Growth-regulated alpha protein levels (CXCL1.2985.35.1) 2e-101 rs3117602 2 GCST90241345 no MR -> candidate analysis
…and 43 more traits (see JSON)          

4. Phenome map — where this gene is a genetic locus, vs. where MR exists

No genetically-associated diseases retrieved from Open Targets.

5. Downstream annotation (druggability & safety preview)

Layer Result
ChEMBL druggability not available — no ChEMBL target (undrugged)
gnomAD constraint pLI=0.093, LOEUF=1.34 — LoF-tolerant
GWAS Catalog 100 unique SNPs / 220 rows
ClinVar 52 records; 5 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance