CausalSentinel

Protein Dossier — CD34 (Hematopoietic progenitor cell antigen CD34)

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
Height 0.0552 0.00713 9.79e-15 Wald ratio 1 trans 1.41e-06
Non-cancer illness code self-reported: hypertension 0.0332 0.00976 6.66e-04 Wald ratio 1 trans NA
Body mass index (BMI) -0.0196 0.00592 9.21e-04 Wald ratio 1 trans NA
Potassium in urine 0.0159 0.00601 0.00806 Wald ratio 1 trans NA
Fasting glucose -0.0179 0.00759 0.0181 Wald ratio 1 trans NA
Eye problems or disorders: Glaucoma 0.101 0.0448 0.0234 Wald ratio 1 trans NA
Diagnoses - main ICD10: I84 Haemorrhoids -0.0948 0.0419 0.0236 Wald ratio 1 trans NA
Neuroticism -0.0207 0.0092 0.0244 Wald ratio 1 trans NA
Heel bone mineral density (BMD) T-score automated 0.0169 0.00765 0.0274 Wald ratio 1 trans NA
PGC cross-disorder traits 0.062 0.0285 0.0297 Wald ratio 1 trans NA
Diagnoses - main ICD10: M23 Internal derangement of knee -0.0925 0.0437 0.0345 Wald ratio 1 trans NA
Non-cancer illness code self-reported: osteoarthritis -0.043 0.0207 0.0375 Wald ratio 1 trans 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

20 association rows across 19 traits (17 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
CD34 protein levels 1e-27 rs6671850 1 GCST90468626 no MR -> candidate analysis
Refractive error 1e-25 rs2745953 2 GCST90841196 no MR -> candidate analysis
CR1 protein levels 8e-21 rs1932817 1 GCST90468851 no MR -> candidate analysis
Corneal resistance factor (MTAG) 2e-19 rs2745950 1 GCST90102517 no MR -> candidate analysis
CR2 protein levels 1e-16 rs2466570 1 GCST90468852 no MR -> candidate analysis
Central corneal thickness (MTAG) 9e-15 rs2745950 1 GCST90102518 no MR -> candidate analysis
Corneal resistance factor 2e-11 rs2745951 1 GCST90308682 no MR -> candidate analysis
Spherical equivalent 3e-11 rs2745953 1 GCST010378 no MR -> candidate analysis
Platelet count 3e-11 rs142735243 1 GCST90662907 no MR -> candidate analysis
Serum total protein levels 1e-10 rs2745949 1 GCST90018976 no MR -> candidate analysis
Gut microbial network clusters (Pink (at 1 year) x Household 6e-10 rs2267898 1 GCST90569453 no MR -> candidate analysis
General risk tolerance (MTAG) 5e-9 rs7572 1 GCST007325 no MR -> candidate analysis
…and 7 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 1787 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 0.764 common-variant locus no MR -> candidate analysis
refractive error 0.639 common-variant locus no MR -> candidate analysis
cardiac arrhythmia 0.613 common-variant locus no MR -> candidate analysis
risk-taking behaviour 0.612 common-variant locus no MR -> candidate analysis
injury 0.509 common-variant locus no MR -> candidate analysis
ovarian neoplasm 0.509 common-variant locus no MR -> candidate analysis
breast carcinoma 0.413 common-variant locus no MR -> candidate analysis
familial hemolytic anemia 0.431 common-variant locus no MR -> candidate analysis
skin cancer 0.411 common-variant locus no MR -> candidate analysis
aging 0.389 common-variant locus no MR -> candidate analysis
primary angle-closure glaucoma 0.38 common-variant locus no MR -> candidate analysis
adolescent idiopathic scoliosis 0.198 common-variant locus no MR -> candidate analysis
central serous retinopathy 0.185 common-variant locus no MR -> candidate analysis
obesity disorder 0.139 common-variant locus no MR -> candidate analysis

Of the 14 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 0 known modulators (CD34-positive blood stem/progenitor cell)
gnomAD constraint pLI=1.5e-10, LOEUF=1.13 — LoF-tolerant
GWAS Catalog 102 unique SNPs / 230 rows
ClinVar 81 records; 1 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance