Protein Dossier — CD163 (Scavenger receptor cysteine-rich type 1 protein M130)
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: osteoporosis |
0.148 |
0.0636 |
0.0197 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: I30 Acute pericarditis |
0.671 |
0.295 |
0.0231 |
Wald ratio |
1 |
trans |
NA |
| Cancer code self-reported: prostate cancer |
0.2 |
0.0885 |
0.0239 |
Wald ratio |
1 |
trans |
NA |
| Coronary heart disease |
0.109 |
0.0483 |
0.0242 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: B37 Candidiasis |
0.559 |
0.272 |
0.0403 |
Wald ratio |
1 |
trans |
NA |
| Rheumatoid arthritis |
-0.152 |
0.08 |
0.0572 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: asthma |
0.0463 |
0.0245 |
0.0588 |
Wald ratio |
1 |
trans |
NA |
| Myocardial infarction |
0.0956 |
0.0518 |
0.0648 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: N20 Calculus of kidney and ureter |
-0.269 |
0.146 |
0.0659 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: high cholesterol |
-0.0475 |
0.026 |
0.0675 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) |
-0.135 |
0.0747 |
0.0715 |
Wald ratio |
1 |
trans |
NA |
| Sodium in urine |
-0.0151 |
0.009 |
0.0945 |
Wald ratio |
1 |
trans |
NA |
| …and 53 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-5028_59_1 |
sCD163 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
183 association rows across 105 traits (176 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 |
| Creatine kinase levels |
1e-337 |
rs7305678 |
7 |
GCST90838680 |
no MR -> candidate analysis |
| FOLR2 protein levels |
3e-176 |
rs61729512 |
3 |
GCST90469260 |
no MR -> candidate analysis |
| FOLR2/THY1 protein level ratio |
3e-142 |
rs7980201 |
1 |
GCST90314867 |
no MR -> candidate analysis |
| Lactate dehydrogenase levels |
7e-104 |
rs6488345 |
4 |
GCST006013 |
no MR -> candidate analysis |
| FOLR3 protein levels |
6e-101 |
rs61729512 |
3 |
GCST90469261 |
no MR -> candidate analysis |
| Circulating FOLR3 levels |
3e-96 |
rs61729512 |
3 |
GCST90860079 |
no MR -> candidate analysis |
| KLK7 protein levels |
6e-95 |
rs61729512 |
3 |
GCST90469706 |
no MR -> candidate analysis |
| total creatine kinase (mean, inv-norm transformed) |
6e-84 |
rs4883279 |
2 |
GCST90480709 |
no MR -> candidate analysis |
| total creatine kinase (minimum, inv-norm transformed) |
3e-82 |
rs4883279 |
2 |
GCST90480710 |
no MR -> candidate analysis |
| Circulating CD163 levels |
5e-79 |
rs7305678 |
4 |
GCST90859926 |
no MR -> candidate analysis |
| total creatine kinase (maximum, inv-norm transformed) |
3e-75 |
rs4883279 |
2 |
GCST90480708 |
no MR -> candidate analysis |
| CLEC4C protein levels |
9e-72 |
rs11054195 |
4 |
GCST90468772 |
no MR -> candidate analysis |
| …and 93 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 1418 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 |
| adolescent idiopathic scoliosis |
0.416 |
— |
common-variant locus |
no MR -> candidate analysis |
| arthropathy |
0.401 |
— |
common-variant locus |
no MR -> candidate analysis |
| acute tonsillitis |
0.401 |
— |
common-variant locus |
no MR -> candidate analysis |
| CINCA syndrome |
0.304 |
— |
established (curated) |
no MR -> candidate analysis |
| stroke disorder |
0.262 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.262 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 6 rows above, 6 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=4e-07, LOEUF=0.61 — LoF-tolerant |
| GWAS Catalog |
117 unique SNPs / 260 rows |
| ClinVar |
197 records; 4 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 1418 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 ‘CD163’.
clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 197 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 105 traits by best p-value, aggregated from 183 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/Q86VB7 — 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 v3.0
phenome: https://platform.opentargets.org/target/ENSG00000177575/associations — Open Targets data release 26.06
gnomad: https://gnomad.broadinstitute.org/gene/CD163 — gnomAD constraint via GraphQL API (reference genome GRCh38)
gwas: https://www.ebi.ac.uk/gwas/genes/CD163 — GWAS Catalog REST (live; release not exposed by this endpoint)
clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CD163%5Bgene%5D — ClinVar build Build260809-1055.1
gwas_traits: https://www.ebi.ac.uk/gwas/genes/CD163 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:40:39 · 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