Protein Dossier — ANXA1 (Annexin A1)
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 |
| Urate |
-0.0608 |
0.0194 |
0.00173 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Cataract |
-0.167 |
0.0556 |
0.00262 |
Wald ratio |
1 |
cis |
NA |
| Hip osteoarthritis |
-0.305 |
0.108 |
0.00483 |
Wald ratio |
1 |
cis |
NA |
| Sleep duration |
-0.0187 |
0.00672 |
0.00538 |
Wald ratio |
1 |
cis |
NA |
| Heel bone mineral density (BMD) T-score automated |
-0.0276 |
0.0111 |
0.0131 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: anxiety or panic attacks |
0.153 |
0.0639 |
0.0165 |
Wald ratio |
1 |
cis |
NA |
| Height |
0.0233 |
0.0109 |
0.0321 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: high cholesterol |
-0.0501 |
0.0245 |
0.0407 |
Wald ratio |
1 |
cis |
NA |
| Childhood intelligence |
0.0822 |
0.0409 |
0.0445 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertension |
-0.0302 |
0.0151 |
0.0458 |
Wald ratio |
1 |
cis |
NA |
| Fractured bone site(s): Wrist |
0.11 |
0.0552 |
0.0466 |
Wald ratio |
1 |
cis |
NA |
| Systemic lupus erythematosus |
0.292 |
0.149 |
0.0497 |
Wald ratio |
1 |
cis |
NA |
| …and 89 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4960_72_1 |
annexin I |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
21 association rows across 16 traits (17 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 |
| Annexin A1 levels |
1e-53 |
rs62541553 |
2 |
GCST90246521 |
no MR -> candidate analysis |
| Height |
5e-36 |
rs9314803 |
4 |
GCST90245848 |
MR: beta=0.0233, p=0.0321 (cis) |
| Bone mineral density mean |
2e-22 |
rs75022010 |
1 |
GCST90321120 |
no MR -> candidate analysis |
| Menarche (age at onset) |
1e-14 |
rs62539060 |
1 |
GCST007078 |
no MR -> candidate analysis |
| Drinks per week |
2e-14 |
rs11143585 |
2 |
GCST90243989 |
no MR -> candidate analysis |
| Brain region volumes |
2e-11 |
rs10781130 |
1 |
GCST009518 |
no MR -> candidate analysis |
| IDP T1 FAST ROIs V cerebellum crus II |
2e-9 |
rs10781132 |
1 |
GCST90002573 |
no MR -> candidate analysis |
| IDP T1 FAST ROIs V cerebellum VIIb |
2e-9 |
rs10781132 |
1 |
GCST90002576 |
no MR -> candidate analysis |
| Total PHF-tau (SNP x SNP interaction) |
2e-9 |
rs7034411 x rs9504609 |
1 |
GCST010340 |
no MR -> candidate analysis |
| Mean corpuscular volume variance |
3e-9 |
rs117649718 |
1 |
GCST90565694 |
no MR -> candidate analysis |
| Alzheimer’s disease or family history of Alzheimer’s disease |
7e-9 |
rs1822289798 |
1 |
GCST90624094 |
no MR -> candidate analysis |
| Vertical cup-disc ratio |
1e-8 |
rs80355279 |
1 |
GCST90129627 |
no MR -> candidate analysis |
| …and 4 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 1491 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 |
| type 1 diabetes mellitus |
0.517 |
— |
common-variant locus |
no MR -> candidate analysis |
| schizophrenia |
0.518 |
— |
common-variant locus |
MR: beta=-0.0248, p=0.469 (cis) |
| myopathy |
0.454 |
— |
common-variant locus |
no MR -> candidate analysis |
| connective tissue disorder |
0.44 |
— |
common-variant locus |
no MR -> candidate analysis |
| Alzheimer disease |
0.331 |
— |
common-variant locus |
no MR -> candidate analysis |
| spinal cord injury |
0.363 |
— |
common-variant locus |
no MR -> candidate analysis |
| Abnormal nasolacrimal system morphology |
0.363 |
— |
common-variant locus |
no MR -> candidate analysis |
| amyotrophic lateral sclerosis |
0.355 |
— |
common-variant locus |
no MR -> candidate analysis |
| urolithiasis |
0.355 |
— |
common-variant locus |
no MR -> candidate analysis |
| cervical carcinoma |
0.349 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.355 |
— |
common-variant locus |
no MR -> candidate analysis |
| nerve plexus disorder |
0.355 |
— |
common-variant locus |
no MR -> candidate analysis |
| placenta praevia |
0.259 |
— |
common-variant locus |
no MR -> candidate analysis |
| bone remodeling disease |
0.255 |
— |
common-variant locus |
no MR -> candidate analysis |
| cerebral atherosclerosis |
0.255 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 14 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 |
0 known modulators (Annexin A1) |
| gnomAD constraint |
pLI=1.8e-11, LOEUF=1.06 — LoF-tolerant |
| GWAS Catalog |
21 unique SNPs / 35 rows |
| ClinVar |
135 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 1491 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 ‘ANXA1’ and resolved to ‘Annexin A1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 135 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 16 of 16 traits by best p-value, aggregated from 21 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/P04083 — 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/ENSG00000135046/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5724756/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/ANXA1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ANXA1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ANXA1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ANXA1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:04:26 · 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