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 |
|---|---|---|---|---|---|---|---|
| Ovarian cancer | -0.221 | 0.0868 | 0.0109 | Wald ratio | 1 | trans | NA |
| High grade serous ovarian cancer | -0.193 | 0.103 | 0.0616 | Wald ratio | 1 | trans | NA |
| Percent emphysema | -0.219 | 0.123 | 0.0749 | Wald ratio | 1 | trans | NA |
| Platelet count | 6.4 | 3.73 | 0.0865 | Wald ratio | 1 | trans | NA |
| Invasive mucinous ovarian cancer | -0.438 | 0.261 | 0.0932 | Wald ratio | 1 | trans | NA |
| Birth weight | 0.037 | 0.0231 | 0.11 | Wald ratio | 1 | trans | NA |
| Mean platelet volume | -0.0168 | 0.0109 | 0.124 | Wald ratio | 1 | trans | NA |
| Mean cell volume | 0.527 | 0.354 | 0.136 | Wald ratio | 1 | trans | NA |
| Age at menarche | 0.0925 | 0.0642 | 0.15 | Wald ratio | 1 | trans | NA |
| Amyotrophic lateral sclerosis | 0.153 | 0.108 | 0.154 | Wald ratio | 1 | trans | NA |
| Forearm bone mineral density | -0.153 | 0.125 | 0.223 | Wald ratio | 1 | trans | NA |
| Low grade serous ovarian cancer | -0.384 | 0.316 | 0.225 | Wald ratio | 1 | trans | NA |
| …and 17 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
56 association rows across 39 traits (28 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-23 | rs1571928 | 3 | GCST90245848 | MR: beta=0.0214, p=0.46 (trans) |
| Smoking initiation | 6e-20 | rs1435257 | 2 | GCST90243985 | no MR -> candidate analysis |
| Circulating ANGPTL1 levels | 3e-17 | rs62563783 | 1 | GCST90860358 | no MR -> candidate analysis |
| Bone mineral density mean | 4e-17 | rs117618609 | 1 | GCST90321120 | no MR -> candidate analysis |
| Body mass index | 2e-12 | rs186809 | 3 | GCST90662912 | no MR -> candidate analysis |
| Duodenitis (PheCode 535.6) | 3e-11 | rs147399943 | 1 | GCST90480302 | no MR -> candidate analysis |
| Circulating ADGRG2 levels | 4e-11 | rs62563783 | 1 | GCST90860360 | no MR -> candidate analysis |
| Total PHF-tau (SNP x SNP interaction) | 4e-11 | rs2546892 x rs884886 | 2 | GCST010340 | no MR -> candidate analysis |
| Schizophrenia | 1e-9 | rs10985811 | 6 | GCST90128471 | no MR -> candidate analysis |
| Bone mineral density variability | 2e-9 | rs138018922 | 5 | GCST90321121 | no MR -> candidate analysis |
| Metabolic syndrome | 2e-9 | rs3889747 | 1 | GCST90444487 | no MR -> candidate analysis |
| Cervical dystonia (age at onset) | 3e-9 | rs147331823 | 1 | GCST90027050 | no MR -> candidate analysis |
| …and 27 more traits (see JSON) |
Top diseases by Open Targets association (of 270 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 |
|---|---|---|---|---|
| developmental and epileptic encephalopathy, 59 | 0.845 | — | established (curated) | no MR -> candidate analysis |
| Epileptic encephalopathy | 0.841 | — | established (curated) | no MR -> candidate analysis |
| neurodevelopmental disorder with poor language and loss of hand skills | 0.827 | — | established (curated) | no MR -> candidate analysis |
| atypical Rett syndrome | 0.73 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.742 | — | established (curated) | no MR -> candidate analysis |
| undetermined early-onset epileptic encephalopathy | 0.608 | — | established (curated) | no MR -> candidate analysis |
| hypothyroidism | 0.601 | — | common-variant locus | no MR -> candidate analysis |
| Rett syndrome | 0.559 | — | established (curated) | no MR -> candidate analysis |
| autism spectrum disorder | 0.195 | — | established (curated) | no MR -> candidate analysis |
| Intellectual disability | 0.519 | — | established (curated) | no MR -> candidate analysis |
| Splenomegaly | 0.479 | — | common-variant locus | no MR -> candidate analysis |
| self-injurious ideation | 0.442 | — | common-variant locus | no MR -> candidate analysis |
| diabetes mellitus | 0.431 | — | common-variant locus | no MR -> candidate analysis |
Of the 13 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 | 1 known modulators (Gamma-aminobutyric acid type B receptor subunit 2) |
| gnomAD constraint | pLI=1, LOEUF=0.309 — LoF-INTOLERANT |
| GWAS Catalog | 64 unique SNPs / 128 rows |
| ClinVar | 1221 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 270 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 ‘GABBR2’ and resolved to ‘Gamma-aminobutyric acid type B receptor subunit 2’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 1221 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 39 traits by best p-value, aggregated from 56 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/O75899 — 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/ENSG00000136928/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5034/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/GABBR2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/GABBR2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=GABBR2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/GABBR2 — GWAS Catalog search API (live; release not exposed)