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 |
|---|---|---|---|---|---|---|---|
| Systemic lupus erythematosus | -0.576 | 0.178 | 0.00123 | Wald ratio | 1 | trans | NA |
| Red blood cell count | 0.027 | 0.00838 | 0.00125 | Wald ratio | 1 | trans | NA |
| Primary sclerosing cholangitis | -0.318 | 0.114 | 0.00542 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: R04 Haemorrhage from respiratory passages | 0.272 | 0.101 | 0.00687 | Wald ratio | 1 | trans | NA |
| Serum cystatin C (eGFRcys) | 0.0171 | 0.00686 | 0.0124 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: C50 Malignant neoplasm of breast | 0.157 | 0.063 | 0.013 | Wald ratio | 1 | trans | NA |
| Nucleus accumbens volume | 10.3 | 4.18 | 0.0138 | Wald ratio | 1 | trans | NA |
| Mean cell volume | -0.234 | 0.0983 | 0.0175 | Wald ratio | 1 | trans | NA |
| Subjective well being | -0.0267 | 0.0114 | 0.0196 | Wald ratio | 1 | trans | NA |
| Underlying (primary) cause of death: ICD10: E85.4 Organ-limited amyloidosis | 1.56 | 0.676 | 0.0213 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: retinal detachment | 0.279 | 0.126 | 0.0267 | Wald ratio | 1 | trans | NA |
| Alcohol intake frequency | 0.0303 | 0.0139 | 0.0292 | Wald ratio | 1 | trans | NA |
| …and 101 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
38 association rows across 34 traits (38 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 |
|---|---|---|---|---|---|
| high density lipoprotein cholesterol (HDLC, mean, inv-norm t | 5e-69 | rs75393320 | 1 | GCST90479632 | no MR -> candidate analysis |
| high density lipoprotein cholesterol (HDLC, maximum, inv-nor | 1e-63 | rs75393320 | 1 | GCST90479631 | no MR -> candidate analysis |
| HDL cholesterol | 8e-45 | rs75393320 | 1 | GCST006611 | MR: beta=-0.0244, p=0.182 (trans) |
| Free Cholesterol to Total Lipids in Large VLDL percentage | 4e-38 | rs4752973 | 1 | GCST90501163 | no MR -> candidate analysis |
| Metabolic syndrome | 5e-34 | rs4752973 | 1 | GCST90444487 | no MR -> candidate analysis |
| Triglycerides to Total Lipids in Large VLDL percentage | 2e-23 | rs4647757 | 1 | GCST90501169 | no MR -> candidate analysis |
| Total cholesterol to total lipids ratio in large HDL | 2e-21 | rs7109203 | 1 | GCST90301996 | no MR -> candidate analysis |
| HDL cholesterol levels x short total sleep time interaction | 2e-21 | rs901746 | 1 | GCST009367 | no MR -> candidate analysis |
| Lymphocyte-to-monocyte ratio | 3e-20 | rs4752973 | 1 | GCST90056181 | no MR -> candidate analysis |
| HDL cholesterol levels x long total sleep time interaction ( | 5e-20 | rs901746 | 1 | GCST009368 | no MR -> candidate analysis |
| Cholesteryl Esters to Total Lipids in Small LDL percentage | 1e-17 | rs7129661 | 1 | GCST90501249 | no MR -> candidate analysis |
| CFP protein levels | 1e-17 | rs4647757 | 1 | GCST90468731 | no MR -> candidate analysis |
| …and 22 more traits (see JSON) |
Top diseases by Open Targets association (of 3146 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 |
|---|---|---|---|---|
| clear cell renal carcinoma | 0.378 | — | common-variant locus | no MR -> candidate analysis |
| hypertensive disorder | 0.361 | — | common-variant locus | no MR -> candidate analysis |
| kidney failure | 0.305 | — | common-variant locus | no MR -> candidate analysis |
| COVID-19 | 0.283 | — | common-variant locus | no MR -> candidate analysis |
| xeroderma pigmentosum group E | 0.278 | — | established (curated) | no MR -> candidate analysis |
| venous thromboembolism | 0.265 | — | common-variant locus | no MR -> candidate analysis |
| glaucoma | 0.261 | — | common-variant locus | MR: beta=-0.0733, p=0.39 (trans) |
| metabolic syndrome | 0.259 | — | common-variant locus | no MR -> candidate analysis |
| health study participation | 0.256 | — | common-variant locus | no MR -> candidate analysis |
| Menorrhagia | 0.243 | — | common-variant locus | no MR -> candidate analysis |
| physical activity | 0.206 | — | common-variant locus | no MR -> candidate analysis |
| hereditary disease | 0.195 | — | established (curated) | no MR -> candidate analysis |
| metabolic dysfunction-associated steatotic liver disease | 0.156 | — | common-variant locus | no MR -> candidate analysis |
| mathematical ability | 0.112 | — | common-variant locus | no MR -> candidate analysis |
| eye injury | 0.107 | — | common-variant locus | MR: beta=-0.166, p=0.266 (trans) |
Of the 15 rows above, 13 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 | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=8.4e-08, LOEUF=0.848 — LoF-tolerant |
| GWAS Catalog | 142 unique SNPs / 349 rows |
| ClinVar | 97 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 3146 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 ‘ACP2’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 97 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 20 of 34 traits by best p-value, aggregated from 38 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/P11117 — 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/ENSG00000134575/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/ACP2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ACP2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ACP2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ACP2 — GWAS Catalog search API (live; release not exposed)