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 |
|---|---|---|---|---|---|---|---|
| Forced expiratory volume in 1-second (FEV1) | 0.0741 | 0.0113 | 6.26e-11 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypopituitarism | 1.23 | 0.22 | 2.44e-08 | Wald ratio | 1 | cis | NA |
| Schizophrenia | 0.215 | 0.0704 | 0.00222 | Wald ratio | 1 | cis | NA |
| Weight | 0.0349 | 0.0116 | 0.00256 | Wald ratio | 1 | cis | NA |
| Body mass index (BMI) | 0.0371 | 0.0131 | 0.00463 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: asthma | -0.11 | 0.041 | 0.00721 | Wald ratio | 1 | cis | NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.103 | 0.0414 | 0.013 | Wald ratio | 1 | cis | NA |
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.185 | 0.0774 | 0.0168 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: enlarged prostate | -0.425 | 0.178 | 0.017 | Wald ratio | 1 | cis | NA |
| Forced vital capacity (FVC) | 0.0255 | 0.0107 | 0.0177 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypertension | 0.0504 | 0.0212 | 0.0177 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: mania or bipolar disorder or manic depression | 0.394 | 0.18 | 0.0285 | Wald ratio | 1 | cis | NA |
| …and 62 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
113 association rows across 72 traits (99 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 |
|---|---|---|---|---|---|
| Lung function (FEV1/FVC) | 4e-181 | rs34712979 | 5 | GCST007080 | no MR -> candidate analysis |
| Chronic obstructive pulmonary disease liability (machine lea | 6e-161 | rs34712979 | 1 | GCST90244098 | no MR -> candidate analysis |
| FEV1 FVC ratio Z score (UKB data field 20258) | 4e-146 | rs34712979 | 1 | GCST90468165 | no MR -> candidate analysis |
| FEV1/FVC ratio | 9e-141 | rs34712979 | 1 | GCST90705072 | no MR -> candidate analysis |
| Forced expiratory volume in 1 second (FEV1) | 2e-110 | rs34712979 | 1 | GCST90705070 | no MR -> candidate analysis |
| Forced expiratory volume in 1 second FEV1 Z score (UKB data | 7e-98 | rs34712979 | 1 | GCST90468166 | no MR -> candidate analysis |
| FEV1 | 9e-97 | rs34712979 | 1 | GCST007432 | MR: beta=0.0741, p=6.26e-11 (cis) |
| Forced expiratory volume (baseline) | 3e-64 | rs34712979 | 2 | GCST90565844 | no MR -> candidate analysis |
| Peak expiratory flow | 2e-51 | rs34712979 | 2 | GCST007430 | no MR -> candidate analysis |
| Serum levels of protein NPNT | 6e-50 | rs34712979 | 1 | GCST90089355 | no MR -> candidate analysis |
| Chronic obstructive pulmonary disease | 3e-46 | rs34712979 | 3 | GCST007692 | no MR -> candidate analysis |
| Chronic obstructive pulmonary disease x ever smoker interact | 8e-43 | rs34712979 | 1 | GCST90016585 | no MR -> candidate analysis |
| …and 60 more traits (see JSON) |
Top diseases by Open Targets association (of 213 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 |
|---|---|---|---|---|
| chronic obstructive pulmonary disease | 0.904 | — | common-variant locus | no MR -> candidate analysis |
| asthma | 0.893 | — | common-variant locus | MR: beta=-0.11, p=0.00721 (cis) |
| lower respiratory tract disorder | 0.728 | — | common-variant locus | no MR -> candidate analysis |
| respiratory system disorder | 0.719 | — | common-variant locus | no MR -> candidate analysis |
| hypertensive disorder | 0.692 | — | common-variant locus | no MR -> candidate analysis |
| essential hypertension | 0.632 | — | common-variant locus | no MR -> candidate analysis |
| major depressive disorder | 0.603 | — | common-variant locus | no MR -> candidate analysis |
| Chronic Obstructive Asthma | 0.593 | — | common-variant locus | no MR -> candidate analysis |
| COVID-19 | 0.573 | — | common-variant locus | no MR -> candidate analysis |
| cardiovascular disorder | 0.584 | — | common-variant locus | no MR -> candidate analysis |
| chronic rhinosinusitis | 0.573 | — | common-variant locus | no MR -> candidate analysis |
| aging | 0.574 | — | common-variant locus | no MR -> candidate analysis |
| Increased blood pressure | 0.535 | — | common-variant locus | no MR -> candidate analysis |
| glaucoma | 0.535 | — | common-variant locus | no MR -> candidate analysis |
| atrial fibrillation | 0.535 | — | common-variant locus | MR: beta=0.103, p=0.366 (cis) |
Of the 15 rows above, 13 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=4e-10, LOEUF=0.841 — LoF-tolerant |
| GWAS Catalog | 52 unique SNPs / 92 rows |
| ClinVar | 149 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 213 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 ‘NPNT’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 149 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 72 traits by best p-value, aggregated from 113 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/Q6UXI9 — 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/ENSG00000168743/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/NPNT — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/NPNT — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=NPNT%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/NPNT — GWAS Catalog search API (live; release not exposed)