CausalSentinel

Protein Dossier — XXYLT1 (Xyloside xylosyltransferase 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
Non-cancer illness code self-reported: bone disorder 0.534 0.167 0.00136 Wald ratio 1 cis NA
Non-cancer illness code self-reported: hypothyroidism or myxoedema -0.191 0.0697 0.00602 Wald ratio 1 cis NA
Birth weight -0.0508 0.0202 0.0117 Wald ratio 1 cis NA
Diagnoses - main ICD10: L03 Cellulitis 0.255 0.113 0.0236 Wald ratio 1 cis NA
Diagnoses - main ICD10: H25 Senile cataract 0.252 0.116 0.0298 Wald ratio 1 cis NA
Sleep duration -0.0199 0.0101 0.0475 Wald ratio 1 cis NA
Low grade serous ovarian cancer 0.56 0.285 0.0495 Wald ratio 1 cis NA
Non-cancer illness code self-reported: hypertension -0.0434 0.0229 0.0583 Wald ratio 1 cis NA
Diagnoses - main ICD10: D25 Leiomyoma of uterus 0.181 0.0958 0.0585 Wald ratio 1 cis NA
Diagnoses - main ICD10: R35 Polyuria 0.282 0.16 0.0785 Wald ratio 1 cis NA
Non-cancer illness code self-reported: osteoporosis 0.152 0.0896 0.0893 Wald ratio 1 cis NA
Bulimia nervosa 0.0847 0.0524 0.106 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

177 association rows across 99 traits (93 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
Bone mineral density mean 1e-300 rs75884405 5 GCST90321120 no MR -> candidate analysis
Height 3e-42 rs4320032 10 GCST90245848 no MR -> candidate analysis
Hematological traits (multi-trait analysis) 3e-28 rs823037 3 GCST90838669 no MR -> candidate analysis
Atrial fibrillation 6e-26 rs60902112 6 GCST90624411 MR: beta=-0.113, p=0.418 (cis)
Basophil (fraction, mean, inv-norm transformed) 2e-25 rs823035 2 GCST90475139 no MR -> candidate analysis
Xyloside xylosyltransferase 1 levels (XXYLT1.6375.75.3) 4e-25 rs36082205 1 GCST90243370 no MR -> candidate analysis
Hematocrit 8e-25 rs1075871 5 GCST90002383 no MR -> candidate analysis
Red blood cell count 2e-24 rs1075871 7 GCST90002403 no MR -> candidate analysis
Hemoglobin 4e-24 rs1075871 2 GCST90002384 no MR -> candidate analysis
Hemoglobin concentration 6e-24 rs711991 4 GCST90002310 no MR -> candidate analysis
Basophil (fraction, maximum, inv-norm transformed) 1e-22 rs2676847 2 GCST90475136 no MR -> candidate analysis
Red blood cell erythrocyte count (UKB data field 30010) 3e-22 rs1075871 1 GCST90468098 no MR -> candidate analysis
…and 87 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 113 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
atrial fibrillation 0.818 common-variant locus MR: beta=-0.113, p=0.418 (cis)
venous thromboembolism 0.509 0.152 multi-layer: burden+GWAS (allelic-series candidate) no MR -> candidate analysis
Abnormality of the skeletal system 0.622 common-variant locus no MR -> candidate analysis
liver disorder 0.546 common-variant locus no MR -> candidate analysis
obesity disorder 0.506 common-variant locus no MR -> candidate analysis
major salivary gland cancer 0.487 common-variant locus no MR -> candidate analysis
exostosis 0.486 common-variant locus no MR -> candidate analysis
alcohol drinking 0.484 common-variant locus no MR -> candidate analysis
placental retention 0.483 common-variant locus no MR -> candidate analysis
urolithiasis 0.451 common-variant locus no MR -> candidate analysis
kidney disorder 0.429 common-variant locus no MR -> candidate analysis
respiratory tract infectious disorder 0.24 common-variant locus no MR -> candidate analysis
Abnormality of the breast 0.231 common-variant locus no MR -> candidate analysis
deep vein thrombosis 0.163 0.163 exploratory rare-variant signal no MR -> candidate analysis
Retinal dystrophy 0.152 0.152 exploratory rare-variant signal no MR -> candidate analysis

Of the 15 rows above, 14 have no MR estimate in this resource. Across all retrieved diseases for this gene: 2 exploratory rare-variant signal(s), 1 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=2e-05, LOEUF=1 — LoF-tolerant
GWAS Catalog 100 unique SNPs / 179 rows
ClinVar 146 records; 1 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance