CausalSentinel

Protein Dossier — ST3GAL6 (Type 2 lactosamine alpha-2,3-sialyltransferase)

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: R04 Haemorrhage from respiratory passages 0.124 0.0361 5.94e-04 Wald ratio 1 cis NA
Age at menarche -0.024 0.00728 1.00e-03 Wald ratio 1 cis NA
ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) -0.0418 0.0141 0.00294 Wald ratio 1 cis NA
Diagnoses - main ICD10: M54 Dorsalgia -0.0709 0.0245 0.00385 Wald ratio 1 cis NA
Height -0.0101 0.00367 0.00589 Wald ratio 1 cis NA
Sleep duration 0.00628 0.0023 0.00625 Wald ratio 1 cis NA
Diagnoses - main ICD10: C61 Malignant neoplasm of prostate -0.0992 0.0399 0.0129 Wald ratio 1 cis NA
Weight -0.00645 0.0026 0.013 Wald ratio 1 cis NA
Large vessel disease -0.104 0.0421 0.0138 Wald ratio 1 cis NA
Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) -0.0191 0.00777 0.0139 Wald ratio 1 cis NA
Diagnoses - main ICD10: M72 Fibroblastic disorders 0.0873 0.0367 0.0175 Wald ratio 1 cis NA
Diagnoses - main ICD10: K29 Gastritis and duodenitis -0.047 0.02 0.0185 Wald ratio 1 cis NA
…and 98 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

424 association rows across 291 traits (411 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 ICAM2 levels 3e-4665 rs10935473 3 GCST90859991 no MR -> candidate analysis
ENG/ICAM2 protein level ratio 2e-3465 rs10935473 1 GCST90314646 no MR -> candidate analysis
Circulating SIGLEC9 levels 1e-3034 rs10935473 4 GCST90859658 no MR -> candidate analysis
Circulating FLT4 levels 1e-2869 rs11927405 2 GCST90860081 no MR -> candidate analysis
EPHB4/ICAM2 protein level ratio 3e-2779 rs10935473 1 GCST90314680 no MR -> candidate analysis
Circulating PDCD1LG2 levels (id: OID00458_OID21273) 4e-1895 rs10935473 2 GCST90859819 no MR -> candidate analysis
Circulating PDCD1LG2 levels (id: OID00831_OID21273) 2e-1444 rs10935473 2 GCST90860159 no MR -> candidate analysis
Type 2 lactosamine alpha-2,3-sialyltransferase levels 5e-1184 rs72934623 2 GCST90249754 no MR -> candidate analysis
ICOSLG/PDCD1LG2 protein level ratio 1e-1038 rs10935473 1 GCST90315125 no MR -> candidate analysis
Circulating CD200R1 levels 2e-646 rs10935473 2 GCST90859738 no MR -> candidate analysis
Circulating IL1R1 levels 3e-564 rs10935473 1 GCST90859959 no MR -> candidate analysis
Serum uromodulin levels (aptamer-based assay) 7e-442 rs34211178 3 GCST90129632 no MR -> candidate analysis
…and 279 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 114 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 the skeletal system 0.797 common-variant locus no MR -> candidate analysis
hypothyroidism 0.69 common-variant locus no MR -> candidate analysis
basal cell carcinoma 0.643 common-variant locus MR: beta=-0.0258, p=0.414 (cis)
skin cancer 0.559 common-variant locus no MR -> candidate analysis
skin neoplasm 0.559 common-variant locus no MR -> candidate analysis
actinic keratosis 0.554 common-variant locus no MR -> candidate analysis
post term pregnancy 0.455 common-variant locus no MR -> candidate analysis
Hashimoto thyroiditis 0.452 common-variant locus no MR -> candidate analysis
lichen planus 0.451 common-variant locus no MR -> candidate analysis
skin disorder 0.448 common-variant locus no MR -> candidate analysis
thyroid gland disorder 0.443 common-variant locus no MR -> candidate analysis
protozoa infectious disease 0.427 common-variant locus no MR -> candidate analysis
autoimmune disease 0.348 common-variant locus no MR -> candidate analysis
cervical carcinoma 0.108 common-variant locus no MR -> candidate analysis
placenta praevia 0.102 common-variant locus no MR -> candidate analysis

Of the 15 rows above, 14 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=8.7e-09, LOEUF=1.03 — LoF-tolerant
GWAS Catalog 170 unique SNPs / 392 rows
ClinVar 58 records; 0 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance