MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
| Outcome | beta | se | p | method | nSNP | cis/trans | coloc |
|---|---|---|---|---|---|---|---|
| Non-cancer illness code self-reported: hypothyroidism or myxoedema | 0.107 | 0.0425 | 0.0118 | Wald ratio | 1 | cis | NA |
| Forearm bone mineral density | -0.154 | 0.0705 | 0.0285 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K29 Gastritis and duodenitis | 0.132 | 0.0605 | 0.0289 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K20 Oesophagitis | -0.27 | 0.144 | 0.061 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: bladder problem (not cancer) | 0.203 | 0.116 | 0.0785 | Wald ratio | 1 | cis | NA |
| LDL cholesterol | -0.0445 | 0.0267 | 0.0956 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: depression | 0.0661 | 0.0411 | 0.108 | Wald ratio | 1 | cis | NA |
| Alzheimer’s disease | 0.197 | 0.123 | 0.108 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: mania or bipolar disorder or manic depression | 0.264 | 0.166 | 0.111 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hiatus hernia | -0.123 | 0.0796 | 0.121 | Wald ratio | 1 | cis | NA |
| Hippocampus volume | -35.2 | 22.8 | 0.122 | Wald ratio | 1 | cis | NA |
| Femoral neck bone mineral density | -0.0534 | 0.0352 | 0.13 | Wald ratio | 1 | cis | NA |
| …and 57 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
453 association rows across 261 traits (450 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 |
|---|---|---|---|---|---|
| Phospholipids in small HDL | 4e-419 | rs525028 | 3 | GCST90501242 | no MR -> candidate analysis |
| Total lipids in small HDL | 3e-407 | rs525028 | 3 | GCST90501240 | no MR -> candidate analysis |
| Free cholesterol in small HDL | 3e-402 | rs525028 | 5 | GCST90501238 | no MR -> candidate analysis |
| Apolipoprotein A1 levels | 7e-331 | rs613808 | 6 | GCST010241 | no MR -> candidate analysis |
| Triglyceride levels (MTAG) | 6e-304 | rs2070665 | 1 | GCST90179149 | no MR -> candidate analysis |
| Apolipoprotein A levels (UKB data field 30630) | 3e-295 | rs613808 | 1 | GCST90468061 | no MR -> candidate analysis |
| Concentration of small HDL particles | 9e-277 | rs525028 | 4 | GCST90501241 | no MR -> candidate analysis |
| Phosphoglycerides levels | 1e-257 | rs525028 | 5 | GCST90501228 | no MR -> candidate analysis |
| Phosphatidylcholine levels | 2e-256 | rs525028 | 5 | GCST90501227 | no MR -> candidate analysis |
| Cholesterol in Small HDL | 1e-221 | rs613808 | 2 | GCST90501234 | no MR -> candidate analysis |
| Concentration of HDL particles | 2e-221 | rs12721030 | 1 | GCST90501116 | no MR -> candidate analysis |
| Polyunsaturated fatty acids | 1e-206 | rs525028 | 2 | GCST90499302 | no MR -> candidate analysis |
| …and 249 more traits (see JSON) |
Top diseases by Open Targets association (of 1225 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 |
|---|---|---|---|---|
| hypoalphalipoproteinemia, primary, 2 | 0.856 | — | established (curated) | no MR -> candidate analysis |
| familial visceral amyloidosis | 0.792 | — | established (curated) | no MR -> candidate analysis |
| Familial renal amyloidosis | 0.792 | — | established (curated) | no MR -> candidate analysis |
| hypoalphalipoproteinemia, primary, 2, intermediate | 0.849 | — | established (curated) | no MR -> candidate analysis |
| apolipoprotein A-I deficiency | 0.79 | — | established (curated) | no MR -> candidate analysis |
| Abnormality of the cardiovascular system | 0.649 | — | established (curated) | no MR -> candidate analysis |
| AApoAI amyloidosis | 0.608 | — | established (curated) | no MR -> candidate analysis |
| Familial renal amyloidosis due to Apolipoprotein AI variant | 0.608 | — | established (curated) | no MR -> candidate analysis |
| Severe intellectual disability and progressive spastic paraplegia | 0.547 | — | established (curated) | no MR -> candidate analysis |
| Spastic paraplegia | 0.547 | — | established (curated) | no MR -> candidate analysis |
| Hypercholesterolemia | 0.488 | — | common-variant locus | MR: beta=-0.0445, p=0.0956 (cis) |
| metabolic disease | 0.489 | — | common-variant locus | no MR -> candidate analysis |
| hypertensive disorder | 0.347 | — | common-variant locus | no MR -> candidate analysis |
| hypoalphalipoproteinemia, primary, 1 | 0.298 | — | established (curated) | no MR -> candidate analysis |
| metabolic syndrome | 0.269 | — | 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.
| Layer | Result |
|---|---|
| ChEMBL druggability | 0 known modulators (Apolipoprotein A-I) |
| gnomAD constraint | pLI=3.2e-07, LOEUF=1.21 — LoF-tolerant |
| GWAS Catalog | 289 unique SNPs / 742 rows |
| ClinVar | 427 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | 2 clinical annotations across 1 drugs |
phenome — Top 30 of 1225 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 ‘APOA1’ and resolved to ‘Apolipoprotein A-I’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 427 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 261 traits by best p-value, aggregated from 453 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.uniprot: https://www.uniprot.org/uniprotkb/P02647 — 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/ENSG00000118137/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5984/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/APOA1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/APOA1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=APOA1%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=APOA1 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/APOA1 — GWAS Catalog search API (live; release not exposed)