CausalSentinel

Protein Dossier — STX7 (Syntaxin-7)

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
Serum creatinine (eGFRcrea) -0.0126 0.00271 3.44e-06 Wald ratio 1 trans NA
Diagnoses - main ICD10: K60 Fissure and fistula of anal and rectal regions 0.31 0.0809 1.30e-04 Wald ratio 1 trans NA
Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms 0.134 0.0528 0.0112 Wald ratio 1 trans NA
Type 2 diabetes -0.0945 0.0377 0.0121 Wald ratio 1 trans NA
Non-cancer illness code self-reported: pulmonary embolism (with or without) dvt -0.272 0.109 0.0127 Wald ratio 1 trans NA
Fracture resulting from simple fall -0.0482 0.0206 0.0195 Wald ratio 1 trans NA
Fractured or broken bones in last 5 years -0.0511 0.0243 0.0354 Wald ratio 1 trans NA
Diagnoses - main ICD10: N20 Calculus of kidney and ureter 0.153 0.0761 0.0446 Wald ratio 1 trans NA
Eye problems or disorders: Glaucoma 0.109 0.0557 0.0497 Wald ratio 1 trans NA
Caudate volume 28.8 14.8 0.0515 Wald ratio 1 trans NA
Neo-openness to experience -0.386 0.202 0.0559 Wald ratio 1 trans NA
Haemoglobin concentration -0.036 0.0192 0.0603 Wald ratio 1 trans NA
…and 100 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

71 association rows across 39 traits (67 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
STX7 protein levels 5e-208 rs62424931 11 GCST90470775 no MR -> candidate analysis
VNN1 protein levels 2e-79 rs6908213 4 GCST90471043 no MR -> candidate analysis
Hematological traits (multi-trait analysis) 2e-40 rs3813356 2 GCST90838669 no MR -> candidate analysis
Syntaxin-7 levels 8e-36 rs12190479 1 GCST90249723 no MR -> candidate analysis
High light scatter reticulocyte count 5e-30 rs3813356 2 GCST90002385 no MR -> candidate analysis
mean corpuscular hemoglobin concentration (MCHC, mean, inv-n 6e-30 rs3813356 2 GCST90475458 no MR -> candidate analysis
High light scatter reticulocyte percentage of red cells 5e-29 rs3813356 2 GCST90002386 no MR -> candidate analysis
Reticulocyte count 1e-28 rs3813356 2 GCST90002405 no MR -> candidate analysis
Reticulocyte fraction of red cells 5e-27 rs3813356 2 GCST90002406 no MR -> candidate analysis
Red cell distribution width 6e-26 rs3813356 6 GCST90002369 no MR -> candidate analysis
High light scatter reticulocyte percentage (UKB data field 3 1e-24 rs3813356 1 GCST90468077 no MR -> candidate analysis
Reticulocyte count (UKB data field 30250) 1e-24 rs3813356 1 GCST90468100 no MR -> candidate analysis
…and 27 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 68 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
Abnormality of neuronal migration 0.426 established (curated) no MR -> candidate analysis
Raynaud disease 0.416 common-variant locus no MR -> candidate analysis
placental abruption 0.337 common-variant locus no MR -> candidate analysis
atrial fibrillation 0.046 common-variant locus no MR -> candidate analysis
cardiac arrhythmia 0.046 common-variant locus no MR -> candidate analysis
aortic stenosis 0.043 common-variant locus no MR -> candidate analysis

Of the 6 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=1.1e-10, LOEUF=1.14 — LoF-tolerant
GWAS Catalog 75 unique SNPs / 150 rows
ClinVar 61 records; 0 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance