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 |
|---|---|---|---|---|---|---|---|
| Amyotrophic lateral sclerosis | 0.196 | 0.0667 | 0.00332 | Wald ratio | 1 | trans | NA |
| Depressive symptoms | -0.0211 | 0.0121 | 0.0801 | Wald ratio | 1 | trans | NA |
| Rheumatoid arthritis | -0.0892 | 0.0526 | 0.0899 | Wald ratio | 1 | trans | NA |
| High grade serous ovarian cancer | -0.0897 | 0.059 | 0.129 | Wald ratio | 1 | trans | NA |
| Hippocampus volume | 26.5 | 17.5 | 0.13 | Wald ratio | 1 | trans | NA |
| Neuroticism | 0.0181 | 0.0121 | 0.134 | Wald ratio | 1 | trans | NA |
| Eczema | 0.0771 | 0.0652 | 0.238 | Wald ratio | 1 | trans | NA |
| Alzheimer’s disease | -0.0643 | 0.0601 | 0.284 | Wald ratio | 1 | trans | NA |
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.0414 | 0.0426 | 0.331 | Wald ratio | 1 | trans | NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.0199 | 0.0235 | 0.397 | Wald ratio | 1 | trans | NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.0235 | 0.0281 | 0.402 | Wald ratio | 1 | trans | NA |
| Intracranial volume | -5.8e+03 | 7.19e+03 | 0.42 | Wald ratio | 1 | trans | NA |
| …and 3 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
28 association rows across 26 traits (11 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 |
|---|---|---|---|---|---|
| Circulating B4GAT1 levels | 1e-394 | rs10896113 | 1 | GCST90860648 | no MR -> candidate analysis |
| Bone mineral density mean | 2e-48 | rs116864252 | 1 | GCST90321120 | no MR -> candidate analysis |
| Diverticulosis and diverticulitis (PheCode 562) | 1e-13 | rs35166611 | 2 | GCST90476073 | no MR -> candidate analysis |
| Diverticulosis (PheCode 562.1) | 3e-11 | rs35166611 | 1 | GCST90480328 | no MR -> candidate analysis |
| Waist-hip ratio | 4e-11 | rs68162171 | 1 | GCST007067 | no MR -> candidate analysis |
| Serum metabolite levels | 6e-11 | rs4930176 | 2 | GCST012021 | no MR -> candidate analysis |
| Bioavailable testosterone levels | 3e-9 | rs7395670 | 1 | GCST90012104 | no MR -> candidate analysis |
| Arachidonic acid levels | 2e-8 | rs3177514 | 1 | GCST90383909 | no MR -> candidate analysis |
| Body shape phenotype PC3 | 3e-8 | rs68162171 | 1 | GCST90832991 | no MR -> candidate analysis |
| Hyperuricemia in low fat intake | 5e-8 | rs570853927 | 1 | GCST90693156 | no MR -> candidate analysis |
| Hyperuricemia in low folate intake | 5e-8 | rs570853927 | 1 | GCST90693181 | no MR -> candidate analysis |
| Hyperuricemia | 6e-8 | rs570853927 | 1 | GCST90693152 | no MR -> candidate analysis |
| …and 14 more traits (see JSON) |
Top diseases by Open Targets association (of 320 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 |
|---|---|---|---|---|
| muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 0.801 | — | established (curated) | no MR -> candidate analysis |
| muscular dystrophy-dystroglycanopathy, type A | 0.608 | — | established (curated) | no MR -> candidate analysis |
| muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 0.426 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.315 | — | established (curated) | no MR -> candidate analysis |
| gout | 0.264 | — | common-variant locus | no MR -> candidate analysis |
| 46,XX gonadal dysgenesis | 0.195 | — | established (curated) | no MR -> candidate analysis |
| genetic non-acquired premature ovarian failure | 0.195 | — | established (curated) | no MR -> candidate analysis |
| handedness | 0.18 | — | common-variant locus | no MR -> candidate analysis |
| diverticular disease | 0.138 | — | common-variant locus | no MR -> candidate analysis |
Of the 9 rows above, 9 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=0.0051, LOEUF=0.762 — LoF-tolerant |
| GWAS Catalog | 70 unique SNPs / 140 rows |
| ClinVar | 267 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 320 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 ‘B4GAT1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 267 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 26 traits by best p-value, aggregated from 28 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/O43505 — 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/ENSG00000174684/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/B4GAT1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/B4GAT1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=B4GAT1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/B4GAT1 — GWAS Catalog search API (live; release not exposed)