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: high cholesterol | -1.11 | 0.113 | 6.33e-23 | Wald ratio | 1 | cis | 1 |
| Coronary heart disease | -0.19 | 0.0472 | 5.60e-05 | Wald ratio | 1 | cis | NA |
| Ulcerative colitis | 0.262 | 0.0717 | 2.56e-04 | Wald ratio | 1 | cis | NA |
| Myocardial infarction | -0.186 | 0.0528 | 4.39e-04 | Wald ratio | 1 | cis | NA |
| Vascular or heart problems diagnosed by doctor: Angina | -0.375 | 0.112 | 8.04e-04 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: bladder problem (not cancer) | 0.38 | 0.123 | 0.0021 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypertension | -0.0723 | 0.0248 | 0.00353 | Wald ratio | 1 | cis | NA |
| Inflammatory bowel disease | 0.158 | 0.0566 | 0.00514 | Wald ratio | 1 | cis | NA |
| Fasting glucose | 0.0457 | 0.0168 | 0.00639 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: gout | -0.555 | 0.208 | 0.00762 | Wald ratio | 1 | cis | NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.103 | 0.0408 | 0.0113 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N20 Calculus of kidney and ureter | 0.287 | 0.123 | 0.0198 | Wald ratio | 1 | cis | NA |
| …and 81 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
1587 association rows across 618 traits (1554 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 |
|---|---|---|---|---|---|
| Apolipoprotein A-V levels | 1e-942 | rs3135506 | 2 | GCST90246544 | no MR -> candidate analysis |
| Triglyceride levels | 9e-814 | rs651821 | 39 | GCST90278645 | no MR -> candidate analysis |
| Triglycerides | 3e-611 | rs651821 | 26 | GCST90018755 | no MR -> candidate analysis |
| Triglyceride to HDL cholesterol ratio | 3e-326 | rs6589567 | 5 | GCST90295949 | no MR -> candidate analysis |
| High density lipoprotein cholesterol levels | 2e-317 | rs651821 | 35 | GCST90278635 | no MR -> candidate analysis |
| Triglyceride levels (UKB data field 30870) | 3e-302 | rs45611741 | 3 | GCST90468106 | no MR -> candidate analysis |
| HDL cholesterol | 6e-293 | rs651821 | 5 | GCST90018956 | no MR -> candidate analysis |
| Monounsaturated fatty acid levels | 9e-265 | rs3135506 | 27 | GCST90502030 | no MR -> candidate analysis |
| HDL cholesterol levels | 3e-247 | rs651821 | 14 | GCST90134519 | no MR -> candidate analysis |
| Hypertriglyceridemia | 5e-228 | rs651821 | 11 | GCST90244626 | no MR -> candidate analysis |
| Metabolic syndrome cluster 4 (lipodystrophy-like endotype) | 3e-210 | rs662799 | 18 | GCST90860771 | no MR -> candidate analysis |
| Hypo-HDL-cholesterolemia | 4e-164 | rs2075291 | 9 | GCST90244635 | no MR -> candidate analysis |
| …and 606 more traits (see JSON) |
Top diseases by Open Targets association (of 287 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 |
|---|---|---|---|---|
| hyperlipoproteinemia type V | 0.83 | — | established (curated) | no MR -> candidate analysis |
| Hyperlipoproteinemia type 4 | 0.842 | — | established (curated) | no MR -> candidate analysis |
| hypertriglyceridemia | 0.858 | — | established (curated) | no MR -> candidate analysis |
| metabolic syndrome | 0.946 | — | common-variant locus | no MR -> candidate analysis |
| coronary artery disorder | 0.936 | — | common-variant locus | no MR -> candidate analysis |
| hyperlipidemia | 0.929 | — | common-variant locus | no MR -> candidate analysis |
| metabolic disease | 0.918 | — | common-variant locus | no MR -> candidate analysis |
| Hypercholesterolemia | 0.917 | — | common-variant locus | MR: beta=-1.11, p=6.33e-23 (cis) |
| Abnormality of the cardiovascular system | 0.904 | — | established (curated) | no MR -> candidate analysis |
| familial lipoprotein lipase deficiency | 0.708 | — | established (curated) | no MR -> candidate analysis |
| familial hyperlipidemia | 0.857 | — | common-variant locus | no MR -> candidate analysis |
| Decreased HDL cholesterol concentration | 0.854 | — | common-variant locus | no MR -> candidate analysis |
| myocardial infarction | 0.837 | — | common-variant locus | MR: beta=-0.186, p=4.39e-04 (cis) |
| small intestine neoplasm | 0.842 | 0.842 | exploratory rare-variant signal | no MR -> candidate analysis |
| abdominal aortic aneurysm | 0.833 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 13 have no MR estimate in this resource. Across all retrieved diseases for this gene: 1 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 | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=4.7e-08, LOEUF=1.13 — LoF-tolerant |
| GWAS Catalog | 317 unique SNPs / 816 rows |
| ClinVar | 375 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | 2 clinical annotations across 4 drugs |
phenome — Top 30 of 287 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 ‘APOA5’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 375 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 618 traits by best p-value, aggregated from 1587 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/Q6Q788 — 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/ENSG00000110243/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/APOA5 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/APOA5 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=APOA5%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=APOA5 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/APOA5 — GWAS Catalog search API (live; release not exposed)