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 |
|---|---|---|---|---|---|---|---|
| Diagnoses - main ICD10: R10 Abdominal and pelvic pain | 0.0828 | 0.0356 | 0.02 | Wald ratio | 1 | cis | NA |
| HDL cholesterol | 0.0371 | 0.016 | 0.0206 | Wald ratio | 1 | cis | NA |
| Clear cell ovarian cancer | -0.276 | 0.127 | 0.0299 | Wald ratio | 1 | cis | NA |
| Urinary albumin-to-creatinine ratio | 0.0446 | 0.0208 | 0.0321 | Wald ratio | 1 | cis | NA |
| Sodium in urine | 0.0168 | 0.00787 | 0.0329 | Wald ratio | 1 | cis | NA |
| Glioma | -0.312 | 0.149 | 0.0364 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Glaucoma | 0.115 | 0.0599 | 0.0549 | Wald ratio | 1 | cis | NA |
| Cancer code self-reported: small intestine or small bowel cancer | 0.48 | 0.252 | 0.0569 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R07 Pain in throat and chest | 0.0605 | 0.0336 | 0.072 | Wald ratio | 1 | cis | NA |
| Squamous cell lung cancer | -0.177 | 0.0996 | 0.0754 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb | 0.0956 | 0.0555 | 0.0848 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: osteoarthritis | 0.0435 | 0.0256 | 0.0898 | Wald ratio | 1 | cis | NA |
| …and 69 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
6 association rows across 5 traits (5 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 |
|---|---|---|---|---|---|
| Beta-1,4-galactosyltransferase 2 levels | 5e-138 | rs3762423 | 2 | GCST90246640 | no MR -> candidate analysis |
| Serum levels of protein B4GALT2 | 1e-17 | rs869896 | 1 | GCST90090770 | no MR -> candidate analysis |
| Smoking initiation | 1e-14 | rs61770309 | 1 | GCST90243985 | no MR -> candidate analysis |
| Blood protein levels | 7e-9 | rs1859728 | 1 | GCST006585 | no MR -> candidate analysis |
| General cognitive ability | 7e-8 | rs2993619 | 1 | GCST006269 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 936 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 |
|---|---|---|---|---|
| intelligence | 0.135 | — | common-variant locus | no MR -> candidate analysis |
Of the 1 rows above, 1 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=0.002, LOEUF=0.805 — LoF-tolerant |
| GWAS Catalog | 54 unique SNPs / 108 rows |
| ClinVar | 83 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | 1 clinical annotations across 1 drugs |
phenome — Top 30 of 936 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 ‘B4GALT2’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 83 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 5 of 5 traits by best p-value, aggregated from 6 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/O60909 — 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/ENSG00000117411/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/B4GALT2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/B4GALT2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=B4GALT2%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=B4GALT2 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/B4GALT2 — GWAS Catalog search API (live; release not exposed)