CausalSentinel

Protein Dossier — ST3GAL1 (CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1)

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: R10 Abdominal and pelvic pain 0.133 0.0401 9.21e-04 Wald ratio 1 cis NA
Non-cancer illness code self-reported: sleep apnoea 0.355 0.122 0.00357 Wald ratio 1 cis NA
Alcohol intake frequency 0.0365 0.014 0.00921 Wald ratio 1 cis NA
Pulse rate 0.0422 0.0167 0.0116 Wald ratio 1 cis NA
Eye problems or disorders: Glaucoma 0.159 0.0678 0.0189 Wald ratio 1 cis NA
Cancer code self-reported: malignant melanoma 0.206 0.0883 0.0197 Wald ratio 1 cis NA
Non-cancer illness code self-reported: diverticular disease or diverticulitis 0.17 0.0761 0.0258 Wald ratio 1 cis NA
Diagnoses - main ICD10: R07 Pain in throat and chest -0.102 0.0469 0.0299 Wald ratio 1 cis NA
Diagnoses - main ICD10: S66 Injury of muscle and tendon at wrist and hand level 0.365 0.171 0.0328 Wald ratio 1 cis NA
Cancer code self-reported: basal cell carcinoma -0.279 0.134 0.0368 Wald ratio 1 cis NA
Non-cancer illness code self-reported: bone disorder 0.312 0.152 0.0406 Wald ratio 1 cis NA
Schizophrenia 0.0825 0.0424 0.0517 Wald ratio 1 cis NA
…and 58 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

128 association rows across 88 traits (97 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 ST3GAL1 levels 1e-313 rs9643300 6 GCST90860277 no MR -> candidate analysis
Bone mineral density mean 1e-300 rs72720294 2 GCST90321120 no MR -> candidate analysis
Circulating LYPD3 levels 3e-160 rs7842080 2 GCST90860022 no MR -> candidate analysis
Circulating CCDC80 levels 2e-133 rs2142306 3 GCST90860352 no MR -> candidate analysis
Height 1e-103 rs4736702 8 GCST90245848 no MR -> candidate analysis
CCDC80 protein levels 9e-103 rs2142306 4 GCST90468562 no MR -> candidate analysis
CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialylt 6e-65 rs9643300 2 GCST90247069 no MR -> candidate analysis
VIT protein levels 5e-64 rs2142306 2 GCST90471041 no MR -> candidate analysis
SDC1 protein levels 2e-48 rs10101832 1 GCST90470558 no MR -> candidate analysis
SSC5D protein levels 2e-47 rs2142306 2 GCST90470748 no MR -> candidate analysis
Circulating SDC1 levels 5e-46 rs7827450 1 GCST90860008 no MR -> candidate analysis
ST3GAL1 protein levels 2e-40 rs6986303 2 GCST90470752 no MR -> candidate analysis
…and 76 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 172 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
prostate carcinoma 0.538 common-variant locus no MR -> candidate analysis
stroke disorder 0.486 common-variant locus no MR -> candidate analysis
alcohol drinking 0.486 common-variant locus no MR -> candidate analysis
Hepatomegaly 0.475 common-variant locus no MR -> candidate analysis
inner ear disorder 0.444 common-variant locus no MR -> candidate analysis
Meniere disease 0.409 common-variant locus no MR -> candidate analysis
hypothyroidism 0.407 common-variant locus no MR -> candidate analysis
insomnia 0.397 common-variant locus no MR -> candidate analysis
hepatitis B virus infection 0.387 common-variant locus no MR -> candidate analysis
bone Paget disease 0.387 common-variant locus no MR -> candidate analysis
fungal infectious disease 0.387 common-variant locus no MR -> candidate analysis
psoriatic arthritis 0.387 common-variant locus no MR -> candidate analysis
preeclampsia 0.335 common-variant locus no MR -> candidate analysis
placenta praevia 0.336 common-variant locus no MR -> candidate analysis
thyroid cancer 0.336 common-variant locus no MR -> candidate analysis

Of the 15 rows above, 15 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 0 known modulators (CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1)
gnomAD constraint pLI=0.036, LOEUF=0.713 — LoF-tolerant
GWAS Catalog 85 unique SNPs / 170 rows
ClinVar 118 records; 1 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance