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 | -0.0497 | 0.0152 | 0.00105 | Wald ratio | 1 | cis | NA |
| Body fat | -0.0653 | 0.0201 | 0.00119 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) | -0.204 | 0.0741 | 0.00581 | Wald ratio | 1 | cis | NA |
| Hirschsprung’s disease | -1.21 | 0.441 | 0.00608 | Wald ratio | 1 | cis | NA |
| Platelet count | 5.12 | 1.94 | 0.00827 | Wald ratio | 1 | cis | NA |
| Cardioembolic stroke | 0.329 | 0.126 | 0.00901 | Wald ratio | 1 | cis | NA |
| Neo-agreeableness | -0.742 | 0.319 | 0.0199 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: G47 Sleep disorders | 0.209 | 0.0905 | 0.0207 | Wald ratio | 1 | cis | NA |
| Creatinine (enzymatic) in urine | 0.0187 | 0.00811 | 0.0212 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Diabetes related eye disease | 0.202 | 0.0896 | 0.0243 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Cataract | -0.117 | 0.0523 | 0.0257 | Wald ratio | 1 | cis | NA |
| Alcohol intake frequency | 0.0267 | 0.0125 | 0.033 | Wald ratio | 1 | cis | NA |
| …and 101 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
153 association rows across 92 traits (147 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 |
|---|---|---|---|---|---|
| Sex hormone-binding globulin levels | 3e-805 | rs12051767 | 13 | GCST90019518 | no MR -> candidate analysis |
| Bioavailable testosterone levels | 8e-309 | rs727428 | 8 | GCST90012102 | no MR -> candidate analysis |
| Free testosterone levels | 1e-233 | rs727428 | 6 | GCST90239826 | no MR -> candidate analysis |
| Body fat percentage (adjusted for testosterone and SHBG) | 6e-90 | rs55831773 | 6 | GCST90432179 | no MR -> candidate analysis |
| Testosterone levels | 5e-73 | rs12051767 | 2 | GCST90019520 | no MR -> candidate analysis |
| Circulating TNFSF13 levels | 5e-59 | rs1642762 | 1 | GCST90860005 | no MR -> candidate analysis |
| mean corpuscular hemoglobin concentration (MCHC, mean, inv-n | 1e-58 | rs72829444 | 2 | GCST90475458 | no MR -> candidate analysis |
| mean corpuscular hemoglobin concentration (MCHC, maximum, in | 6e-52 | rs72829444 | 2 | GCST90475454 | no MR -> candidate analysis |
| Sodium/potassium-transporting ATPase subunit beta-2 levels | 2e-46 | rs1641523 | 2 | GCST90249615 | no MR -> candidate analysis |
| Glycated haemoglobin HbA1c levels (UKB data field 30750) | 2e-45 | rs1641523 | 1 | GCST90468072 | no MR -> candidate analysis |
| SAT2 protein levels | 3e-42 | rs545492634 | 2 | GCST90470529 | no MR -> candidate analysis |
| Serum levels of protein ATP1B2 | 1e-40 | rs1641523 | 1 | GCST90089742 | no MR -> candidate analysis |
| …and 80 more traits (see JSON) |
Top diseases by Open Targets association (of 3271 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 |
|---|---|---|---|---|
| atrial fibrillation | 0.29 | — | common-variant locus | MR: beta=0.0738, p=0.325 (cis) |
| type 2 diabetes mellitus | 0.67 | — | common-variant locus | no MR -> candidate analysis |
| testicular disorder | 0.395 | — | common-variant locus | no MR -> candidate analysis |
| memory impairment | 0.363 | — | common-variant locus | no MR -> candidate analysis |
| Hypercholesterolemia | 0.36 | — | common-variant locus | MR: beta=-0.0344, p=0.0824 (cis) |
| aging | 0.314 | — | common-variant locus | no MR -> candidate analysis |
| smoking cessation | 0.312 | — | common-variant locus | no MR -> candidate analysis |
| hyperlipidemia | 0.302 | — | common-variant locus | no MR -> candidate analysis |
| metabolic disease | 0.302 | — | common-variant locus | no MR -> candidate analysis |
| diabetes mellitus | 0.29 | — | common-variant locus | no MR -> candidate analysis |
| basal cell carcinoma | 0.22 | — | common-variant locus | no MR -> candidate analysis |
| esophageal squamous cell carcinoma | 0.086 | — | common-variant locus | no MR -> candidate analysis |
Of the 12 rows above, 10 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 (Sodium/potassium-transporting ATPase subunit alpha-2/beta-2) |
| gnomAD constraint | pLI=0.96, LOEUF=0.521 — LoF-INTOLERANT |
| GWAS Catalog | 199 unique SNPs / 504 rows |
| ClinVar | 77 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 3271 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 ‘ATP1B2’ and resolved to ‘Sodium/potassium-transporting ATPase subunit alpha-2/beta-2’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 77 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 92 traits by best p-value, aggregated from 153 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/P14415 — 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/ENSG00000129244/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL6066561/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/ATP1B2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ATP1B2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ATP1B2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ATP1B2 — GWAS Catalog search API (live; release not exposed)