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 |
|---|---|---|---|---|---|---|---|
| Bipolar disorder | 0.401 | 0.135 | 0.00306 | Wald ratio | 1 | trans | NA |
| Transferrin | 0.171 | 0.0617 | 0.00553 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: R35 Polyuria | 0.406 | 0.156 | 0.00926 | Wald ratio | 1 | trans | NA |
| Fractured bone site(s): Arm | 0.28 | 0.11 | 0.0108 | Wald ratio | 1 | trans | NA |
| Melanoma | 0.72 | 0.289 | 0.0127 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: K35 Acute appendicitis | 0.349 | 0.148 | 0.0181 | Wald ratio | 1 | trans | NA |
| Happiness | -0.0397 | 0.0176 | 0.0245 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: K43 Ventral hernia | 0.347 | 0.155 | 0.0254 | Wald ratio | 1 | trans | NA |
| Age at menopause | -0.289 | 0.131 | 0.0278 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: osteoarthritis | -0.116 | 0.0535 | 0.03 | Wald ratio | 1 | trans | NA |
| HOMA-B | -0.0394 | 0.0194 | 0.0427 | Wald ratio | 1 | trans | NA |
| Fasting insulin | -0.0368 | 0.0184 | 0.0455 | Wald ratio | 1 | trans | NA |
| …and 90 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
45 association rows across 29 traits (26 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 |
|---|---|---|---|---|---|
| Bone mineral density mean | 1e-300 | rs145318196 | 1 | GCST90321120 | no MR -> candidate analysis |
| FGL1 protein levels | 8e-91 | rs9325827 | 4 | GCST90469235 | no MR -> candidate analysis |
| N-acetylputrescine levels | 3e-48 | rs13264304 | 1 | GCST90103088 | no MR -> candidate analysis |
| ASAH1 protein levels | 5e-27 | rs191166394 | 2 | GCST90468373 | no MR -> candidate analysis |
| X-15461 levels | 5e-26 | rs4986782 | 1 | GCST90140450 | no MR -> candidate analysis |
| GLIPR1 protein levels | 7e-25 | rs757412866 | 1 | GCST90469357 | no MR -> candidate analysis |
| N-acetyltaurine levels | 4e-22 | rs4986782 | 4 | GCST90139488 | no MR -> candidate analysis |
| 5-acetylamino-6-formylamino-3-methyluracil levels | 5e-20 | rs1353039 | 3 | GCST90102841 | no MR -> candidate analysis |
| 5-acetylamino-6-amino-3-methyluracil levels | 4e-13 | rs12678356 | 1 | GCST90102840 | no MR -> candidate analysis |
| Smoking initiation | 8e-13 | rs55661744 | 1 | GCST90243985 | no MR -> candidate analysis |
| Free Cholesterol to Cholesteryl Esters in Very Large HDL rat | 4e-10 | rs79540484 | 1 | GCST90828013 | no MR -> candidate analysis |
| Low-density lipoprotein levels (MTAG) | 2e-9 | rs4921893 | 2 | GCST90179148 | no MR -> candidate analysis |
| …and 17 more traits (see JSON) |
Top diseases by Open Targets association (of 737 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 |
|---|---|---|---|---|
| lagophthalmos | 0.517 | — | common-variant locus | no MR -> candidate analysis |
| liver disorder | 0.482 | — | common-variant locus | no MR -> candidate analysis |
| abscess | 0.461 | — | common-variant locus | no MR -> candidate analysis |
| cellulitis | 0.461 | — | common-variant locus | MR: beta=0.146, p=0.297 (trans) |
| gangrene | 0.438 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.383 | — | common-variant locus | no MR -> candidate analysis |
| stroke disorder | 0.309 | — | common-variant locus | no MR -> candidate analysis |
| skin disorder | 0.211 | — | common-variant locus | no MR -> candidate analysis |
| urolithiasis | 0.198 | — | common-variant locus | no MR -> candidate analysis |
| complication | 0.159 | — | common-variant locus | no MR -> candidate analysis |
| gastrointestinal disease | 0.159 | — | common-variant locus | no MR -> candidate analysis |
| placenta praevia | 0.128 | — | common-variant locus | no MR -> candidate analysis |
Of the 12 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 | 20 known modulators (Sodium-dependent noradrenaline transporter) |
| gnomAD constraint | pLI=NA, LOEUF=NA — Constraint metrics missing; LoF tolerance cannot be judged. |
| GWAS Catalog | 51 unique SNPs / 86 rows |
| ClinVar | 150 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | 1 clinical annotations across 1 drugs |
phenome — Top 30 of 737 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 ‘NAT1’ and resolved to ‘Sodium-dependent noradrenaline transporter’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 150 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 29 traits by best p-value, aggregated from 45 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/P18440 — 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/ENSG00000171428/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL222/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/NAT1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/NAT1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=NAT1%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=NAT1 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/NAT1 — GWAS Catalog search API (live; release not exposed)