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 |
|---|---|---|---|---|---|---|---|
| Forced expiratory volume in 1-second (FEV1) | 0.0305 | 0.00796 | 1.24e-04 | Inverse variance weighted | 2 | cis | NA |
| Forced expiratory volume in 1-second (FEV1) | 0.0305 | 0.00796 | 1.24e-04 | Inverse variance weighted | 2 | trans | NA |
| Forced vital capacity (FVC) | 0.0252 | 0.00754 | 8.37e-04 | Inverse variance weighted | 2 | cis | NA |
| Forced vital capacity (FVC) | 0.0252 | 0.00754 | 8.37e-04 | Inverse variance weighted | 2 | trans | NA |
| Non-cancer illness code self-reported: osteoporosis | 0.175 | 0.0622 | 0.00479 | Inverse variance weighted | 2 | cis | NA |
| Non-cancer illness code self-reported: osteoporosis | 0.175 | 0.0622 | 0.00479 | Inverse variance weighted | 2 | trans | NA |
| Non-cancer illness code self-reported: pulmonary embolism (with or without) dvt | 0.226 | 0.082 | 0.00579 | Inverse variance weighted | 2 | cis | NA |
| Non-cancer illness code self-reported: pulmonary embolism (with or without) dvt | 0.226 | 0.082 | 0.00579 | Inverse variance weighted | 2 | trans | NA |
| Non-cancer illness code self-reported: hypertension | 0.0406 | 0.0151 | 0.00703 | Inverse variance weighted | 2 | cis | NA |
| Non-cancer illness code self-reported: hypertension | 0.0406 | 0.0151 | 0.00703 | Inverse variance weighted | 2 | trans | NA |
| Fasting glucose | -0.0301 | 0.0117 | 0.0102 | Inverse variance weighted | 2 | cis | NA |
| Fasting glucose | -0.0301 | 0.0117 | 0.0102 | Inverse variance weighted | 2 | trans | NA |
| …and 186 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
179 association rows across 123 traits (112 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 |
|---|---|---|---|---|---|
| Height | 1e-68 | rs358498 | 8 | GCST90245848 | MR: beta=0.0502, p=0.386 (cis) |
| Voltage-dependent calcium channel subunit alpha-2/delta-3 le | 7e-45 | rs9878608 | 3 | GCST90250154 | no MR -> candidate analysis |
| Lung function (FEV1/FVC) | 1e-31 | rs17759204 | 4 | GCST007080 | no MR -> candidate analysis |
| FEV1/FVC ratio | 4e-29 | rs11708743 | 1 | GCST90705072 | no MR -> candidate analysis |
| Leucine-rich repeat and transmembrane domain-containing prot | 8e-29 | rs1878110 | 1 | GCST90427784 | no MR -> candidate analysis |
| FEV1 FVC ratio Z score (UKB data field 20258) | 5e-26 | rs17759204 | 1 | GCST90468165 | no MR -> candidate analysis |
| Chronic obstructive pulmonary disease liability (machine lea | 2e-25 | rs17759204 | 1 | GCST90244098 | no MR -> candidate analysis |
| Facial morphology (segment 2) | 3e-24 | rs17054293 | 1 | GCST90007245 | no MR -> candidate analysis |
| IL17RB protein levels | 2e-22 | rs116550666 | 6 | GCST90469563 | no MR -> candidate analysis |
| Type 2 diabetes | 5e-22 | rs4955988 | 9 | GCST90134620 | MR: beta=-0.0486, p=0.258 (cis) |
| Total PHF-tau (SNP x SNP interaction) | 2e-20 | rs17053724 x rs11018364 | 4 | GCST010340 | no MR -> candidate analysis |
| Bone mineral density mean | 1e-18 | rs149885450 | 3 | GCST90321120 | no MR -> candidate analysis |
| …and 111 more traits (see JSON) |
Top diseases by Open Targets association (of 352 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 |
|---|---|---|---|---|
| mathematical ability | 0.707 | — | common-variant locus | no MR -> candidate analysis |
| chronic obstructive pulmonary disease | 0.077 | — | common-variant locus | no MR -> candidate analysis |
| type 2 diabetes mellitus | 0.601 | — | common-variant locus | no MR -> candidate analysis |
| placental abruption | 0.576 | — | common-variant locus | no MR -> candidate analysis |
| attention deficit-hyperactivity disorder | 0.563 | — | common-variant locus | no MR -> candidate analysis |
| substance abuse | 0.563 | — | common-variant locus | no MR -> candidate analysis |
Of the 6 rows above, 6 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 | 9 known modulators (Voltage-gated calcium channel) |
| gnomAD constraint | pLI=1, LOEUF=0.463 — LoF-INTOLERANT |
| GWAS Catalog | 118 unique SNPs / 294 rows |
| ClinVar | 308 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 352 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 ‘CACNA2D3’ and resolved to ‘Voltage-gated calcium channel’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 308 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 123 traits by best p-value, aggregated from 179 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/Q8IZS8 — 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/ENSG00000157445/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2363032/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CACNA2D3 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CACNA2D3 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CACNA2D3%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CACNA2D3 — GWAS Catalog search API (live; release not exposed)