Protein Dossier — CD48 (CD48 antigen)
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 |
| Eye problems or disorders: Diabetes related eye disease |
0.303 |
0.0894 |
6.97e-04 |
Wald ratio |
1 |
cis |
NA |
| Alcohol intake frequency |
0.0432 |
0.0138 |
0.00178 |
Wald ratio |
1 |
cis |
NA |
| Weight |
0.0203 |
0.00826 |
0.0141 |
Wald ratio |
1 |
cis |
NA |
| Happiness |
0.0281 |
0.0116 |
0.0154 |
Wald ratio |
1 |
cis |
NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
-0.0686 |
0.0288 |
0.0172 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] |
-0.221 |
0.0982 |
0.0248 |
Wald ratio |
1 |
cis |
NA |
| Sodium in urine |
0.0205 |
0.00921 |
0.0258 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: pernicious anaemia |
0.288 |
0.132 |
0.0293 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: N40 Hyperplasia of prostate |
0.178 |
0.0821 |
0.03 |
Wald ratio |
1 |
cis |
NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
-0.0728 |
0.0345 |
0.0349 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K80 Cholelithiasis |
0.117 |
0.0582 |
0.0452 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: bladder problem (not cancer) |
-0.363 |
0.184 |
0.0481 |
Wald ratio |
1 |
cis |
NA |
| …and 62 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3292_75_1 |
CD48 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
50 association rows across 28 traits (48 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 CD48 levels |
9e-1653 |
rs10908797 |
3 |
GCST90860011 |
no MR -> candidate analysis |
| Circulating SLAMF7 levels |
1e-821 |
rs66692283 |
2 |
GCST90859745 |
no MR -> candidate analysis |
| SLAM family member 7 levels |
1e-169 |
rs2090756 |
3 |
GCST90249565 |
no MR -> candidate analysis |
| CD48 protein levels |
8e-135 |
rs1503851 |
7 |
GCST90468635 |
no MR -> candidate analysis |
| SLAMF7 protein levels |
4e-90 |
rs111287847 |
6 |
GCST90470651 |
no MR -> candidate analysis |
| CD48 antigen levels |
2e-50 |
rs1980606 |
5 |
GCST90246944 |
no MR -> candidate analysis |
| Serum levels of protein SLAMF7 |
3e-44 |
rs3845628 |
1 |
GCST90089059 |
no MR -> candidate analysis |
| LY9 protein levels |
4e-39 |
rs71639027 |
2 |
GCST90469824 |
no MR -> candidate analysis |
| Serum levels of protein CD48 |
9e-35 |
rs140833109 |
2 |
GCST90088294 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein CD48 levels |
2e-32 |
rs10489637 |
1 |
GCST90944166 |
no MR -> candidate analysis |
| CD48 antigen levels (CD48.3292.75.1) |
1e-25 |
rs12124234 |
1 |
GCST90240643 |
no MR -> candidate analysis |
| Circulating TNFRSF10C levels |
1e-22 |
rs11584616 |
1 |
GCST90859942 |
no MR -> candidate analysis |
| …and 16 more traits (see JSON) |
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 289 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 |
| Decreased total leukocyte count |
0.466 |
— |
common-variant locus |
no MR -> candidate analysis |
| multiple sclerosis |
0.036 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 2 rows above, 2 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=4.7e-07, LOEUF=1.32 — LoF-tolerant |
| GWAS Catalog |
117 unique SNPs / 256 rows |
| ClinVar |
71 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 289 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — No ChEMBL target for ‘CD48’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 71 ClinVar records for this gene; it is a sample, not a rate.pharmgkb — No PharmGKB/ClinPGx clinical annotations (gene may not be a pharmacogene).gwas_traits — Top 20 of 28 traits by best p-value, aggregated from 50 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/P09326 — 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/ENSG00000117091/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CD48 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CD48 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CD48%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CD48 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:43:14 · 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