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 |
|---|---|---|---|---|---|---|---|
| Caudate volume | 60 | 17.2 | 4.89e-04 | Wald ratio | 1 | cis | NA |
| Putamen volume | 67.2 | 20.9 | 0.00128 | Wald ratio | 1 | cis | NA |
| Systemic lupus erythematosus | -0.378 | 0.127 | 0.00294 | Wald ratio | 1 | cis | NA |
| Years of schooling | 0.02 | 0.0075 | 0.00766 | Wald ratio | 1 | cis | NA |
| Alcohol intake frequency | 0.0244 | 0.00933 | 0.00901 | Wald ratio | 1 | cis | NA |
| Lung adenocarcinoma | 0.178 | 0.0694 | 0.0102 | Wald ratio | 1 | cis | NA |
| Height | -0.02 | 0.009 | 0.0263 | Wald ratio | 1 | cis | NA |
| Pulse rate | 0.0243 | 0.0111 | 0.0288 | Wald ratio | 1 | cis | NA |
| Pallidum volume | 14.2 | 6.58 | 0.0311 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R04 Haemorrhage from respiratory passages | 0.158 | 0.0754 | 0.0357 | Wald ratio | 1 | cis | NA |
| 2hr glucose | 0.117 | 0.0563 | 0.0367 | Wald ratio | 1 | cis | NA |
| Sleep duration | -0.0102 | 0.00493 | 0.0391 | Wald ratio | 1 | cis | NA |
| …and 87 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
28 association rows across 23 traits (24 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 |
|---|---|---|---|---|---|
| GDP-fucose protein O-fucosyltransferase 1 levels | 6e-274 | rs76143353 | 2 | GCST90247715 | no MR -> candidate analysis |
| Serum levels of protein POFUT1 | 1e-89 | rs17268666 | 1 | GCST90089110 | no MR -> candidate analysis |
| GDP-fucose protein O-fucosyltransferase 1 levels (POFUT1.563 | 9e-58 | rs76143353 | 2 | GCST90241250 | no MR -> candidate analysis |
| Monocyte percentage of white cells | 3e-24 | rs6141652 | 2 | GCST90002394 | no MR -> candidate analysis |
| Low tan response | 6e-23 | rs77476644 | 1 | GCST005897 | no MR -> candidate analysis |
| Circulating CCL25 levels | 6e-18 | rs6119786 | 1 | GCST90859901 | no MR -> candidate analysis |
| CCL25 protein levels | 1e-16 | rs6119786 | 1 | GCST90468577 | no MR -> candidate analysis |
| AFP protein levels | 3e-15 | rs11905172 | 1 | GCST90468250 | no MR -> candidate analysis |
| Cigarettes smoked per day | 3e-15 | rs2093146 | 1 | GCST90243987 | no MR -> candidate analysis |
| Lung function (FEV1/FVC) | 1e-13 | rs4413223 | 1 | GCST007431 | no MR -> candidate analysis |
| CDNF protein levels | 1e-12 | rs17268666 | 1 | GCST90468686 | no MR -> candidate analysis |
| GDP-fucose protein O-fucosyltransferase 1 level in Chronic k | 2e-12 | rs113280909 | 1 | GCST90238002 | no MR -> candidate analysis |
| …and 11 more traits (see JSON) |
Top diseases by Open Targets association (of 578 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 |
|---|---|---|---|---|
| Dowling-Degos disease | 0.796 | — | established (curated) | no MR -> candidate analysis |
| actinic keratosis | 0.4 | — | common-variant locus | no MR -> candidate analysis |
| skin neoplasm | 0.4 | — | common-variant locus | no MR -> candidate analysis |
| placental retention | 0.396 | — | common-variant locus | no MR -> candidate analysis |
| hereditary disease | 0.315 | — | established (curated) | no MR -> candidate analysis |
| hypertensive disorder | 0.196 | — | common-variant locus | no MR -> candidate analysis |
| metabolic disease | 0.126 | — | common-variant locus | no MR -> candidate analysis |
| smoking cessation | 0.107 | — | common-variant locus | no MR -> candidate analysis |
Of the 8 rows above, 8 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=0.71, LOEUF=0.573 — LoF-tolerant |
| GWAS Catalog | 41 unique SNPs / 82 rows |
| ClinVar | 176 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 578 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 ‘POFUT1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 176 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 23 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/Q9H488 — 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/ENSG00000101346/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/POFUT1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/POFUT1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=POFUT1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/POFUT1 — GWAS Catalog search API (live; release not exposed)