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: hypertension | 0.0827 | 0.0213 | 1.03e-04 | Wald ratio | 1 | cis | NA |
| Systolic blood pressure automated reading | 0.0526 | 0.0139 | 1.53e-04 | Wald ratio | 1 | cis | NA |
| Diastolic blood pressure automated reading | 0.0417 | 0.0139 | 0.00267 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: pulmonary embolism (with or without) dvt | 0.288 | 0.114 | 0.0117 | Wald ratio | 1 | cis | NA |
| Platelet count | 6.36 | 2.56 | 0.0129 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K40 Inguinal hernia | -0.27 | 0.11 | 0.0142 | Wald ratio | 1 | cis | NA |
| Myocardial infarction | 0.133 | 0.0569 | 0.0192 | Wald ratio | 1 | cis | NA |
| Fasting glucose | 0.0434 | 0.0195 | 0.0263 | Wald ratio | 1 | cis | NA |
| Rheumatoid arthritis | 0.176 | 0.0795 | 0.0265 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R11 Nausea and vomiting | 0.346 | 0.157 | 0.0281 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: osteoarthritis | 0.0877 | 0.0416 | 0.035 | Wald ratio | 1 | cis | NA |
| Pallidum volume | 22.5 | 10.7 | 0.0366 | Wald ratio | 1 | cis | NA |
| …and 84 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
137 association rows across 76 traits (102 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 |
|---|---|---|---|---|---|
| Pleckstrin homology domain-containing family A member 7 leve | 5e-694 | rs425325 | 4 | GCST90249021 | no MR -> candidate analysis |
| Bone mineral density mean | 3e-77 | rs112467382 | 1 | GCST90321120 | no MR -> candidate analysis |
| NUCB2 protein levels | 2e-47 | rs72865761 | 7 | GCST90470101 | no MR -> candidate analysis |
| Reticulocyte fraction of red cells | 3e-46 | rs17472529 | 1 | GCST90002406 | no MR -> candidate analysis |
| Reticulocyte count | 2e-37 | rs17472529 | 1 | GCST90002405 | no MR -> candidate analysis |
| Mean corpuscular hemoglobin | 5e-35 | rs17472529 | 1 | GCST90002390 | no MR -> candidate analysis |
| High light scatter reticulocyte percentage of red cells | 2e-29 | rs17472529 | 1 | GCST90002386 | no MR -> candidate analysis |
| NCR3LG1 protein levels | 6e-27 | rs77255250 | 4 | GCST90470010 | no MR -> candidate analysis |
| High light scatter reticulocyte count | 5e-25 | rs17472529 | 1 | GCST90002385 | no MR -> candidate analysis |
| Vertex-wise sulcal depth | 2e-24 | rs7947897 | 1 | GCST90095129 | no MR -> candidate analysis |
| Primary open angle glaucoma (multi-trait analysis) | 2e-24 | rs4141194 | 1 | GCST90310211 | no MR -> candidate analysis |
| Retinal thickness (pixel 63_91) | 8e-22 | rs12575487 | 1 | GCST90527987 | no MR -> candidate analysis |
| …and 64 more traits (see JSON) |
Top diseases by Open Targets association (of 141 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 |
|---|---|---|---|---|
| glaucoma | 0.776 | — | common-variant locus | no MR -> candidate analysis |
| open-angle glaucoma | 0.776 | — | common-variant locus | no MR -> candidate analysis |
| hypertensive disorder | 0.747 | — | common-variant locus | no MR -> candidate analysis |
| cleft lip | 0.603 | — | established (curated) | no MR -> candidate analysis |
| alcohol drinking | 0.655 | — | common-variant locus | no MR -> candidate analysis |
| primary angle-closure glaucoma | 0.601 | — | common-variant locus | no MR -> candidate analysis |
| essential hypertension | 0.589 | — | common-variant locus | no MR -> candidate analysis |
| Back pain | 0.524 | — | common-variant locus | no MR -> candidate analysis |
| ovarian dysfunction | 0.513 | — | common-variant locus | no MR -> candidate analysis |
| pyogenic granuloma | 0.512 | — | common-variant locus | no MR -> candidate analysis |
| coronary artery disorder | 0.498 | — | common-variant locus | no MR -> candidate analysis |
| response to xenobiotic stimulus | 0.478 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.466 | — | common-variant locus | no MR -> candidate analysis |
| bilirubin metabolism disease | 0.428 | — | common-variant locus | no MR -> candidate analysis |
| smoking initiation | 0.378 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 15 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 (Pleckstrin homology domain-containing family A member 7) |
| gnomAD constraint | pLI=1.4e-19, LOEUF=0.72 — LoF-tolerant |
| GWAS Catalog | 115 unique SNPs / 247 rows |
| ClinVar | 311 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 141 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 ‘PLEKHA7’ and resolved to ‘Pleckstrin homology domain-containing family A member 7’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 311 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 76 traits by best p-value, aggregated from 137 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/Q6IQ23 — 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/ENSG00000166689/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4296241/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/PLEKHA7 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PLEKHA7 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PLEKHA7%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PLEKHA7 — GWAS Catalog search API (live; release not exposed)