CausalSentinel

Protein Dossier — QSOX2 (Sulfhydryl oxidase 2)

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 vital capacity (FVC) 0.0255 0.00553 3.83e-06 Wald ratio 1 cis NA
Forced expiratory volume in 1-second (FEV1) 0.0234 0.00583 5.98e-05 Wald ratio 1 cis NA
Sodium in urine -0.0262 0.00663 7.98e-05 Wald ratio 1 cis NA
Non-cancer illness code self-reported: high cholesterol 0.0593 0.0172 5.54e-04 Wald ratio 1 cis NA
Diastolic blood pressure automated reading 0.022 0.0069 0.00141 Wald ratio 1 cis NA
Underlying (primary) cause of death: ICD10: E85.4 Organ-limited amyloidosis 1.42 0.449 0.0016 Wald ratio 1 cis NA
Rheumatoid arthritis -0.144 0.0524 0.00611 Wald ratio 1 cis NA
Fractured bone site(s): Arm 0.153 0.0584 0.00864 Wald ratio 1 cis NA
Sleep duration -0.0137 0.00526 0.00936 Wald ratio 1 cis NA
Alcohol intake frequency -0.0255 0.00996 0.0103 Wald ratio 1 cis NA
Weight 0.015 0.00595 0.0117 Wald ratio 1 cis NA
Diagnoses - main ICD10: S66 Injury of muscle and tendon at wrist and hand level 0.299 0.128 0.0191 Wald ratio 1 cis NA
…and 73 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

156 association rows across 75 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
Height 1e-300 rs7038554 30 GCST90245843 no MR -> candidate analysis
height (mean, inv-normal transformed) 1e-207 rs7849585 4 GCST90475362 no MR -> candidate analysis
Height (maximum, inv-normal transformed) 3e-203 rs7849585 3 GCST90475359 no MR -> candidate analysis
height (minimum, inv-normal transformed) 1e-168 rs62578989 3 GCST90475365 no MR -> candidate analysis
What is your height? (cm, inv-normal transformed) 2e-107 rs62578989 2 GCST90475368 no MR -> candidate analysis
Standing height (UKB data field 50) 2e-61 rs7038554 1 GCST90468178 no MR -> candidate analysis
Free thyroxine levels within normal range in pregnancy 3e-55 rs10858249 1 GCST90435196 no MR -> candidate analysis
Height (baseline) 6e-53 rs7038554 2 GCST90565843 no MR -> candidate analysis
Body size or adipose distribution (multivariate analysis) 1e-52 rs4842134 1 GCST90624105 no MR -> candidate analysis
Sulfhydryl oxidase 2 levels (QSOX2.8397.147.3) 2e-50 rs10858248 2 GCST90242914 no MR -> candidate analysis
Physical function (baseline) 1e-37 rs12684650 1 GCST90565837 no MR -> candidate analysis
FVC 5e-34 rs12684650 1 GCST90270083 MR: beta=0.0255, p=3.83e-06 (cis)
…and 63 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 94 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
insomnia 0.572 common-variant locus no MR -> candidate analysis
refractive error 0.459 common-variant locus no MR -> candidate analysis
type 2 diabetes mellitus 0.399 common-variant locus no MR -> candidate analysis
atrial fibrillation 0.221 common-variant locus MR: beta=-0.0747, p=0.28 (cis)
Abnormality of refraction 0.215 common-variant locus no MR -> candidate analysis
Inguinal hernia 0.166 common-variant locus MR: beta=0.0783, p=0.04 (cis)
Hernia 0.128 common-variant locus MR: beta=0.179, p=0.0357 (cis)
Abnormality of the skeletal system 0.107 common-variant locus no MR -> candidate analysis

Of the 8 rows above, 5 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=3.6e-12, LOEUF=0.953 — LoF-tolerant
GWAS Catalog 78 unique SNPs / 156 rows
ClinVar 221 records; 2 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance