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 |
|---|---|---|---|---|---|---|---|
| Height | 0.0598 | 0.00687 | 3.05e-18 | Wald ratio | 1 | trans | 0.943 |
| Weight | 0.0206 | 0.00481 | 1.82e-05 | Wald ratio | 1 | trans | NA |
| Forced vital capacity (FVC) | 0.0161 | 0.00446 | 2.96e-04 | Wald ratio | 1 | trans | NA |
| Diastolic blood pressure automated reading | -0.0177 | 0.00557 | 0.00151 | Wald ratio | 1 | trans | NA |
| Potassium in urine | 0.0173 | 0.00552 | 0.00179 | Wald ratio | 1 | trans | NA |
| Coronary heart disease | 0.0646 | 0.0209 | 0.00196 | Wald ratio | 1 | trans | NA |
| Thyroid cancer | -0.57 | 0.189 | 0.00255 | Wald ratio | 1 | trans | NA |
| Creatinine (enzymatic) in urine | 0.0156 | 0.00521 | 0.00283 | Wald ratio | 1 | trans | NA |
| Forced expiratory volume in 1-second (FEV1) | 0.0133 | 0.00471 | 0.00474 | Wald ratio | 1 | trans | NA |
| Sleep duration | 0.0117 | 0.00425 | 0.00604 | Wald ratio | 1 | trans | NA |
| Ferritin | 0.0578 | 0.0215 | 0.00713 | Wald ratio | 1 | trans | NA |
| Transferrin | -0.0612 | 0.0233 | 0.00857 | Wald ratio | 1 | trans | NA |
| …and 106 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
33 association rows across 24 traits (27 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 |
|---|---|---|---|---|---|
| Red blood cell count | 4e-29 | rs7601633 | 5 | GCST90002367 | MR: beta=-0.00443, p=0.405 (trans) |
| Mean corpuscular volume | 7e-28 | rs1868582 | 1 | GCST90002392 | no MR -> candidate analysis |
| Mean reticulocyte volume | 8e-20 | rs7601633 | 1 | GCST90002396 | no MR -> candidate analysis |
| N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransfera | 7e-19 | rs80161321 | 1 | GCST90248603 | no MR -> candidate analysis |
| Mean corpuscular hemoglobin | 8e-19 | rs1868583 | 4 | GCST90002322 | no MR -> candidate analysis |
| Red blood cell erythrocyte count (UKB data field 30010) | 1e-18 | rs35014657 | 1 | GCST90468098 | no MR -> candidate analysis |
| GLIPR1 protein levels | 1e-17 | rs533283805 | 1 | GCST90469357 | no MR -> candidate analysis |
| Mean reticulocyte volume (UKB data field 30260) | 8e-17 | rs11125911 | 1 | GCST90468088 | no MR -> candidate analysis |
| mean corpuscular hemoglobin (MCH, maximum, inv-norm transfor | 8e-14 | rs2901457 | 1 | GCST90479672 | no MR -> candidate analysis |
| mean corpuscular hemoglobin (MCH, mean, inv-norm transformed | 2e-13 | rs2901457 | 1 | GCST90479673 | no MR -> candidate analysis |
| Glycosaminoglycan xylosylkinase levels | 4e-12 | rs11680440 | 1 | GCST90247665 | no MR -> candidate analysis |
| red blood cell count (RBC, mean, inv-norm transformed) | 4e-12 | rs7601633 | 1 | GCST90480669 | no MR -> candidate analysis |
| …and 12 more traits (see JSON) |
Top diseases by Open Targets association (of 110 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 |
|---|---|---|---|---|
| hypothyroidism | 0.709 | — | common-variant locus | MR: beta=0.017, p=0.475 (trans) |
| autoimmune disease | 0.622 | — | common-variant locus | no MR -> candidate analysis |
| psoriasis | 0.578 | — | common-variant locus | MR: beta=-0.083, p=0.137 (trans) |
| thyroid gland disorder | 0.58 | — | common-variant locus | no MR -> candidate analysis |
| ankylosing spondylitis | 0.539 | — | common-variant locus | MR: beta=0.114, p=0.221 (trans) |
| rheumatoid arthritis | 0.527 | — | common-variant locus | MR: beta=0.0655, p=0.0468 (trans) |
| Hashimoto thyroiditis | 0.501 | — | common-variant locus | no MR -> candidate analysis |
| Alzheimer disease | 0.492 | — | common-variant locus | no MR -> candidate analysis |
| seborrheic dermatitis | 0.463 | — | common-variant locus | no MR -> candidate analysis |
| erythematosquamous dermatosis | 0.458 | — | common-variant locus | no MR -> candidate analysis |
| Crohn disease | 0.436 | — | common-variant locus | no MR -> candidate analysis |
| psoriasis vulgaris | 0.431 | — | common-variant locus | no MR -> candidate analysis |
| type 2 diabetes mellitus | 0.396 | — | common-variant locus | no MR -> candidate analysis |
| inflammatory spondylopathy | 0.367 | — | common-variant locus | no MR -> candidate analysis |
| anterior uveitis | 0.362 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 11 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 (N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2) |
| gnomAD constraint | pLI=0.17, LOEUF=0.705 — LoF-tolerant |
| GWAS Catalog | 61 unique SNPs / 122 rows |
| ClinVar | 73 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 110 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 ‘B3GNT2’ and resolved to ‘N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 73 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 24 traits by best p-value, aggregated from 33 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/Q9NY97 — 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/ENSG00000170340/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5465363/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/B3GNT2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/B3GNT2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=B3GNT2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/B3GNT2 — GWAS Catalog search API (live; release not exposed)