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: K35 Acute appendicitis | 0.453 | 0.141 | 0.00136 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: polio or poliomyelitis | 0.836 | 0.273 | 0.00223 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R07 Pain in throat and chest | 0.17 | 0.0571 | 0.00298 | Wald ratio | 1 | cis | NA |
| Hirschsprung’s disease | -1.68 | 0.664 | 0.0116 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K44 Diaphragmatic hernia | 0.233 | 0.0969 | 0.0163 | Wald ratio | 1 | cis | NA |
| High grade serous ovarian cancer | 0.23 | 0.103 | 0.0255 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: vaginal prolapse or uterine prolapse | 0.333 | 0.151 | 0.0276 | Wald ratio | 1 | cis | NA |
| Serum creatinine (eGFRcrea) | 0.0122 | 0.00554 | 0.0278 | Wald ratio | 1 | cis | NA |
| Cancer code self-reported: malignant melanoma | 0.285 | 0.132 | 0.0305 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N92 Excessive frequent and irregular menstruation | -0.32 | 0.149 | 0.0315 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypopituitarism | 0.865 | 0.419 | 0.0391 | Wald ratio | 1 | cis | NA |
| Percent emphysema | -0.118 | 0.0579 | 0.0415 | Wald ratio | 1 | cis | NA |
| …and 93 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
No GWAS Catalog associations mapped to this gene.
Top diseases by Open Targets association (of 67 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 |
|---|---|---|---|---|
| spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | 0.904 | — | established (curated) | no MR -> candidate analysis |
| Ehlers-Danlos syndrome, spondylodysplastic type, 2 | 0.892 | — | established (curated) | no MR -> candidate analysis |
| spondyloepimetaphyseal dysplasia with joint laxity | 0.9 | — | established (curated) | no MR -> candidate analysis |
| Ehlers-Danlos syndrome, progeroid type | 0.93 | — | established (curated) | no MR -> candidate analysis |
| Al-Gazali syndrome | 0.831 | — | established (curated) | no MR -> candidate analysis |
| spondyloepiphyseal dysplasia | 0.438 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.317 | — | established (curated) | no MR -> candidate analysis |
| hypothyroidism | 0.094 | — | common-variant locus | MR: beta=0.115, p=0.0553 (cis) |
| hair color | 0.064 | — | common-variant locus | no MR -> candidate analysis |
| asthma | 0.04 | — | common-variant locus | MR: beta=-0.0728, p=0.111 (cis) |
| ankylosing spondylitis | 0.037 | — | common-variant locus | no MR -> candidate analysis |
| sclerosing cholangitis | 0.037 | — | common-variant locus | no MR -> candidate analysis |
| psoriasis | 0.037 | — | common-variant locus | MR: beta=-0.139, p=0.413 (cis) |
| Crohn disease | 0.037 | — | common-variant locus | no MR -> candidate analysis |
| ulcerative colitis | 0.037 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 12 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=5.3e-11, LOEUF=1.6 — LoF-tolerant |
| GWAS Catalog | 51 unique SNPs / 102 rows |
| ClinVar | 573 records; 9 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 67 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 ‘B3GALT6’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 573 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 — No GWAS Catalog associations mapped to this gene.uniprot: https://www.uniprot.org/uniprotkb/Q96L58 — 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/ENSG00000176022/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/B3GALT6 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/B3GALT6 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=B3GALT6%5Bgene%5D — ClinVar build Build260809-1055.1