CausalSentinel

Protein Dossier — B4GALT6 (Beta-1,4-galactosyltransferase 6)

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
Pallidum volume 14.3 4.21 6.98e-04 Wald ratio 1 cis NA
Non-cancer illness code self-reported: bladder problem (not cancer) 0.15 0.0594 0.0116 Wald ratio 1 cis NA
Eye problems or disorders: Cataract 0.0658 0.0267 0.0138 Wald ratio 1 cis NA
Diagnoses - main ICD10: D25 Leiomyoma of uterus -0.12 0.0523 0.0216 Wald ratio 1 cis NA
Diagnoses - main ICD10: M23 Internal derangement of knee 0.0724 0.0328 0.0274 Wald ratio 1 cis NA
Diagnoses - main ICD10: S66 Injury of muscle and tendon at wrist and hand level 0.228 0.106 0.0316 Wald ratio 1 cis NA
Diagnoses - main ICD10: R11 Nausea and vomiting 0.149 0.0723 0.0397 Wald ratio 1 cis NA
Alcohol intake frequency 0.0159 0.00775 0.0407 Wald ratio 1 cis NA
Non-cancer illness code self-reported: deep venous thrombosis (dvt) 0.0682 0.0347 0.0495 Wald ratio 1 cis NA
Myocardial infarction -0.0532 0.0277 0.0551 Wald ratio 1 cis NA
Diagnoses - main ICD10: B37 Candidiasis 0.347 0.184 0.0594 Wald ratio 1 cis NA
High grade serous ovarian cancer -0.0636 0.0355 0.0734 Wald ratio 1 cis NA
…and 57 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

20 association rows across 17 traits (13 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
Beta-1,4-galactosyltransferase 6 levels 9e-231 rs113222817 2 GCST90246641 no MR -> candidate analysis
Serum levels of protein B4GALT6 1e-132 rs113222817 1 GCST90086466 no MR -> candidate analysis
TRAIL levels 7e-82 rs62093514 1 GCST004424 no MR -> candidate analysis
Beta-1,4-galactosyltransferase 6 levels (B4GALT6.10832.24.3) 2e-77 rs201022770 2 GCST90240404 no MR -> candidate analysis
Blood protein levels 8e-71 rs113222817 1 GCST006585 no MR -> candidate analysis
Thyroxine levels 4e-30 rs184097503 2 GCST90572790 no MR -> candidate analysis
DSG2 protein levels 3e-20 rs71372020 1 GCST90469042 no MR -> candidate analysis
DSG3 protein levels 1e-14 rs183636416 1 GCST90469043 no MR -> candidate analysis
Retinol levels 6e-14 rs1667255 1 GCST001216 no MR -> candidate analysis
Height 3e-8 rs1667284 1 GCST90245846 no MR -> candidate analysis
Depression severity x playing computer games interaction 5e-8 rs113081283 1 GCST90101758 no MR -> candidate analysis
Fasting insulin adjusted for BMI 8e-8 rs6506934 1 GCST90503331 no MR -> candidate analysis
…and 5 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 69 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
osteoarthritis 0.13 common-variant locus no MR -> candidate analysis
Abnormality of the immune system 0.081 common-variant locus no MR -> candidate analysis

Of the 2 rows above, 2 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=0.99, LOEUF=0.473 — LoF-INTOLERANT
GWAS Catalog 37 unique SNPs / 71 rows
ClinVar 100 records; 4 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance