Protein Dossier — AFM (Afamin)
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 |
| Cancer code self-reported: malignant melanoma |
0.235 |
0.0894 |
0.00865 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hayfever or allergic rhinitis |
0.0942 |
0.037 |
0.0109 |
Wald ratio |
1 |
cis |
NA |
| Cancer code self-reported: basal cell carcinoma |
-0.384 |
0.156 |
0.0138 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K35 Acute appendicitis |
-0.662 |
0.307 |
0.0309 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm) |
0.782 |
0.368 |
0.0337 |
Wald ratio |
1 |
cis |
NA |
| Neo-extraversion |
-0.735 |
0.35 |
0.0358 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: migraine |
0.105 |
0.0515 |
0.0422 |
Wald ratio |
1 |
cis |
NA |
| HbA1C |
-0.0277 |
0.0142 |
0.0501 |
Wald ratio |
1 |
cis |
NA |
| Major depressive disorder |
-0.16 |
0.0846 |
0.0588 |
Wald ratio |
1 |
cis |
NA |
| Low grade serous ovarian cancer |
-0.316 |
0.169 |
0.0609 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K20 Oesophagitis |
-0.236 |
0.129 |
0.0665 |
Wald ratio |
1 |
cis |
NA |
| Lung cancer |
0.107 |
0.0598 |
0.0739 |
Wald ratio |
1 |
cis |
NA |
| …and 86 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4763_31_3 |
Afamin |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
15 association rows across 9 traits (14 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 |
| Afamin levels |
3e-125 |
rs72856641 |
5 |
GCST90246450 |
no MR -> candidate analysis |
| CXCL1 protein levels |
9e-52 |
rs13131508 |
1 |
GCST90468930 |
no MR -> candidate analysis |
| AFM protein levels |
6e-23 |
rs115264016 |
2 |
GCST90468249 |
no MR -> candidate analysis |
| Serum levels of protein AFM |
4e-20 |
rs72853185 |
1 |
GCST90088767 |
no MR -> candidate analysis |
| CXCL6 protein levels |
1e-18 |
rs139818614 |
1 |
GCST90468933 |
no MR -> candidate analysis |
| Insulin-like growth factor-binding protein 7 levels |
1e-15 |
rs1289184022 |
1 |
GCST90179322 |
no MR -> candidate analysis |
| Prostate cancer |
5e-15 |
rs1894292 |
2 |
GCST006085 |
no MR -> candidate analysis |
| Afamin level in Chronic kidney disease with hypertension and |
2e-13 |
rs72856634 |
1 |
GCST90237707 |
no MR -> candidate analysis |
| Iris color (b* coordinate) |
4e-7 |
rs12510870 |
1 |
GCST005096 |
no MR -> candidate analysis |
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 193 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 |
0.531 |
— |
common-variant locus |
no MR -> candidate analysis |
| prostate carcinoma |
0.482 |
— |
common-variant locus |
no MR -> candidate analysis |
| adrenal gland disorder |
0.105 |
— |
common-variant locus |
no MR -> candidate analysis |
| escherichia coli infection |
0.057 |
— |
common-variant locus |
no MR -> candidate analysis |
| Disorder of lipid metabolism |
0.049 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.043 |
— |
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=7.2e-33, LOEUF=1.43 — LoF-tolerant |
| GWAS Catalog |
52 unique SNPs / 104 rows |
| ClinVar |
131 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 193 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 ‘AFM’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 131 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 9 of 9 traits by best p-value, aggregated from 15 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/P43652 — 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/ENSG00000079557/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/AFM — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/AFM — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=AFM%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/AFM — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T00:57:04 · 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