Protein Dossier — AGER (Advanced glycation end product-specific receptor)
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 |
| Age at menarche |
0.112 |
0.0244 |
4.40e-06 |
Wald ratio |
1 |
trans |
NA |
| Body mass index (BMI) |
-0.0414 |
0.0103 |
6.09e-05 |
Wald ratio |
1 |
trans |
NA |
| Forced vital capacity (FVC) |
0.0317 |
0.00847 |
1.82e-04 |
Wald ratio |
1 |
trans |
NA |
| Alcohol intake frequency |
-0.0566 |
0.0153 |
2.04e-04 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: M23 Internal derangement of knee |
0.197 |
0.0572 |
5.74e-04 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: N81 Female genital prolapse |
0.234 |
0.0686 |
6.64e-04 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm) |
0.959 |
0.31 |
0.00196 |
Wald ratio |
1 |
trans |
NA |
| Haemoglobin concentration |
0.0665 |
0.0229 |
0.00362 |
Wald ratio |
1 |
trans |
NA |
| Weight |
-0.0243 |
0.00911 |
0.00754 |
Wald ratio |
1 |
trans |
NA |
| Type 2 diabetes |
-0.163 |
0.0612 |
0.00772 |
Wald ratio |
1 |
trans |
NA |
| HOMA-B |
-0.0357 |
0.0137 |
0.00916 |
Wald ratio |
1 |
trans |
NA |
| Neo-agreeableness |
0.669 |
0.258 |
0.00953 |
Wald ratio |
1 |
trans |
NA |
| …and 100 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4125_52_2 |
sRAGE |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
58 association rows across 47 traits (56 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 |
| FEV1 FVC ratio Z score (UKB data field 20258) |
3e-239 |
rs2070600 |
1 |
GCST90468165 |
no MR -> candidate analysis |
| Lung function (FEV1/FVC) |
2e-227 |
rs2070600 |
5 |
GCST90244094 |
no MR -> candidate analysis |
| Neonatal circulating Complement Component 4 (C4) protein con |
5e-189 |
rs35795092 |
1 |
GCST90281042 |
no MR -> candidate analysis |
| SFTPD protein levels |
3e-171 |
rs2070600 |
2 |
GCST90470614 |
no MR -> candidate analysis |
| Advanced glycosylation end product-specific receptor, solubl |
1e-113 |
rs2070600 |
2 |
GCST90246455 |
no MR -> candidate analysis |
| Chronic obstructive pulmonary disease liability (machine lea |
3e-83 |
rs9391855 |
1 |
GCST90244098 |
no MR -> candidate analysis |
| MICB or MICA protein levels |
1e-74 |
rs35795092 |
1 |
GCST90469905 |
no MR -> candidate analysis |
| Hypothyroidism or rheumatoid arthritis (pleiotropy) |
1e-57 |
rs1800684 |
2 |
GCST90428109 |
no MR -> candidate analysis |
| Peak expiratory flow |
2e-45 |
rs2070600 |
1 |
GCST007430 |
no MR -> candidate analysis |
| Physical function (baseline) |
2e-35 |
rs1035798 |
1 |
GCST90565837 |
no MR -> candidate analysis |
| Advanced glycosylation end product-specific receptor, solubl |
4e-33 |
rs2070600 |
1 |
GCST90240215 |
no MR -> candidate analysis |
| Serum levels of protein AGER |
1e-31 |
rs2070600 |
1 |
GCST90088583 |
no MR -> candidate analysis |
| …and 35 more traits (see JSON) |
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
No genetically-associated diseases retrieved from Open Targets.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
1 known modulators (Advanced glycosylation end product-specific receptor) |
| gnomAD constraint |
pLI=2.5e-15, LOEUF=1.2 — LoF-tolerant |
| GWAS Catalog |
414 unique SNPs / 1116 rows |
| ClinVar |
117 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 1171 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 ‘AGER’ and resolved to ‘Advanced glycosylation end product-specific receptor’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 117 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 47 traits by best p-value, aggregated from 58 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/Q15109 — 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/ENSG00000204305/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2176846/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/AGER — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/AGER — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=AGER%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/AGER — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T00:58:00 · 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