Protein Dossier — CD33 (Myeloid cell surface antigen CD33)
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 |
| Alzheimer’s disease |
0.1 |
0.0185 |
6.66e-08 |
Wald ratio |
1 |
cis |
0.998 |
| Non-cancer illness code self-reported: asthma |
0.0271 |
0.00739 |
2.50e-04 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I84 Haemorrhoids |
0.0479 |
0.0166 |
0.00391 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I30 Acute pericarditis |
0.31 |
0.115 |
0.00717 |
Wald ratio |
1 |
cis |
NA |
| Cancer code self-reported: basal cell carcinoma |
0.0709 |
0.0264 |
0.00718 |
Wald ratio |
1 |
cis |
NA |
| Platelet count |
1.19 |
0.467 |
0.0109 |
Wald ratio |
1 |
cis |
NA |
| HbA1C |
0.00996 |
0.00403 |
0.0134 |
Wald ratio |
1 |
cis |
NA |
| Body mass index (BMI) |
0.00669 |
0.00271 |
0.0136 |
Wald ratio |
1 |
cis |
NA |
| Diastolic blood pressure automated reading |
0.00635 |
0.00278 |
0.0221 |
Wald ratio |
1 |
cis |
NA |
| Weight |
0.00503 |
0.00239 |
0.0355 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Injury or trauma resulting in loss of vision |
0.0673 |
0.0331 |
0.0424 |
Wald ratio |
1 |
cis |
NA |
| Pancreatic cancer |
-0.11 |
0.0548 |
0.0438 |
Wald ratio |
1 |
cis |
NA |
| …and 101 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3166_92_1 |
Siglec-3 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
201 association rows across 105 traits (189 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 CD33 levels |
2e-9500 |
rs2455069 |
1 |
GCST90860706 |
no MR -> candidate analysis |
| Myeloid cell surface antigen CD33 levels |
3e-1638 |
rs12459419 |
11 |
GCST90248431 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein CD33 levels |
2e-524 |
rs2455069 |
1 |
GCST90944163 |
no MR -> candidate analysis |
| Myeloid cell surface antigen CD33 levels (CD33.3166.92.1) |
9e-445 |
rs12459419 |
2 |
GCST90241989 |
no MR -> candidate analysis |
| Blood protein levels |
6e-372 |
rs1354106 |
1 |
GCST006585 |
no MR -> candidate analysis |
| CD33 protein levels |
4e-214 |
rs117533019 |
12 |
GCST90468625 |
no MR -> candidate analysis |
| CD33 on CD33dim HLA DR+ CD11b+ |
2e-191 |
rs3865444 |
2 |
GCST90001948 |
no MR -> candidate analysis |
| CD33 on CD14+ monocyte |
1e-190 |
rs3865444 |
3 |
GCST90001946 |
no MR -> candidate analysis |
| CD33 on CD33+ HLA DR+ CD14- |
9e-189 |
rs3865444 |
3 |
GCST90001957 |
no MR -> candidate analysis |
| CD33 on CD33+ HLA DR+ |
3e-187 |
rs3865444 |
3 |
GCST90001956 |
no MR -> candidate analysis |
| CD33 on CD33+ HLA DR+ CD14dim |
8e-184 |
rs3865444 |
2 |
GCST90001947 |
no MR -> candidate analysis |
| CD33 on CD33dim HLA DR+ CD11b- |
2e-183 |
rs3865444 |
2 |
GCST90001949 |
no MR -> candidate analysis |
| …and 93 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 633 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 |
| Alzheimer disease |
0.724 |
— |
common-variant locus |
no MR -> candidate analysis |
| late-onset Alzheimers disease |
0.576 |
— |
common-variant locus |
no MR -> candidate analysis |
| smoking initiation |
0.549 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 3 rows above, 3 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 |
6 known modulators (Myeloid cell surface antigen CD33) |
| gnomAD constraint |
pLI=1.3e-07, LOEUF=1.11 — LoF-tolerant |
| GWAS Catalog |
142 unique SNPs / 330 rows |
| ClinVar |
89 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
1 clinical annotations across 1 drugs |
phenome — Top 30 of 633 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘CD33’ and resolved to ‘Myeloid cell surface antigen CD33’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 89 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 105 traits by best p-value, aggregated from 201 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/P20138 — UniProt release 2026_02 (10-June-2026)mr_outcomes: https://epigraphdb.org/pqtl/ — EpiGraphDB pQTL MR (Zheng et al., Nat Genet 2020) — pre-computed two-sample MR; retrieved, not computed by this agent; EpiGraphDB build 1.0, pQTL dataset v3.0phenome: https://platform.opentargets.org/target/ENSG00000105383/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL1842/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CD33 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CD33 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CD33%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=CD33 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/CD33 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:42:18 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: none