CausalSentinel

Protein Dossier — ANXA2 (Annexin A2)

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 -0.0351 0.00894 8.90e-05 Wald ratio 1 cis NA
Weight -0.0105 0.00317 8.68e-04 Wald ratio 1 cis NA
Amygdala volume -9.2 3.48 0.00813 Wald ratio 1 cis NA
Birth weight -0.0133 0.00557 0.0169 Wald ratio 1 cis NA
HOMA-IR 0.0144 0.00608 0.0176 Wald ratio 1 cis NA
Fasting proinsulin 0.0237 0.0102 0.0202 Wald ratio 1 cis NA
Putamen volume -20.5 8.89 0.021 Wald ratio 1 cis NA
Platelet count -1.39 0.603 0.0212 Wald ratio 1 cis NA
Body mass index (BMI) -0.00792 0.00359 0.0271 Wald ratio 1 cis NA
Diagnoses - main ICD10: C50 Malignant neoplasm of breast 0.0582 0.0265 0.0279 Wald ratio 1 cis NA
Non-cancer illness code self-reported: anxiety or panic attacks 0.0626 0.029 0.0312 Wald ratio 1 cis NA
Non-cancer illness code self-reported: high cholesterol -0.0208 0.0099 0.0359 Wald ratio 1 cis NA
…and 107 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

Dataset Trait Author Year
prot-c-4961_17_1 annexin II Suhre K 2019

3. GWAS Catalog results — traits with signal at this locus

50 association rows across 31 traits (36 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 A2 levels 6e-987 rs8033800 8 GCST90246522 no MR -> candidate analysis
ANXA2 protein levels 7e-99 rs6494191 11 GCST90468317 no MR -> candidate analysis
KLRB1 protein levels 3e-23 rs11071528 1 GCST90469709 no MR -> candidate analysis
Height 3e-17 rs8040209 2 GCST90245848 MR: beta=-0.00567, p=0.211 (cis)
Circulating FLT4 levels 2e-15 rs17845226 1 GCST90860081 no MR -> candidate analysis
FLT4 protein levels 8e-15 rs17845226 1 GCST90469252 no MR -> candidate analysis
Hematological traits (multi-trait analysis) 9e-14 rs11071528 1 GCST90838669 no MR -> candidate analysis
Serum levels of protein ANXA2 6e-13 rs61381915 1 GCST90088827 no MR -> candidate analysis
Blood protein levels 2e-10 rs61381915 1 GCST006585 no MR -> candidate analysis
Total PHF-tau (SNP x SNP interaction) 2e-10 rs10196561 x rs2414660 1 GCST010340 no MR -> candidate analysis
Bioavailable testosterone levels 2e-9 rs12437778 1 GCST90027085 no MR -> candidate analysis
Bcl-2-like protein 11 protein levels (SomaScan ID:13700-10) 3e-9 rs12440452 1 GCST90438342 no MR -> candidate analysis
…and 19 more traits (see JSON)          

4. Phenome map — where this gene is a genetic locus, vs. where MR exists

Top diseases by Open Targets association (of 697 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
benign urinary system neoplasm 0.486 common-variant locus no MR -> candidate analysis
multiple sclerosis 0.035 common-variant locus no MR -> candidate analysis
ovarian neoplasm 0.447 common-variant locus no MR -> candidate analysis
Hallux valgus 0.388 common-variant locus no MR -> candidate analysis
myasthenia gravis 0.384 common-variant locus no MR -> candidate analysis
biliary tract disorder 0.377 common-variant locus no MR -> candidate analysis
diabetes mellitus 0.352 common-variant locus no MR -> candidate analysis
mastodynia 0.355 common-variant locus no MR -> candidate analysis

Of the 8 rows above, 8 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 A2)
gnomAD constraint pLI=1.1e-05, LOEUF=0.812 — LoF-tolerant
GWAS Catalog 66 unique SNPs / 113 rows
ClinVar 69 records; 0 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance