Protein Dossier — NPPB (Natriuretic peptides B)
MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
1. Published MR estimates (retrieved, not computed)
| Outcome |
beta |
se |
p |
method |
nSNP |
cis/trans |
coloc |
| Neuroblastoma |
0.216 |
0.162 |
0.185 |
Wald ratio |
1 |
cis |
NA |
| Thyroid cancer |
-0.355 |
0.317 |
0.263 |
Wald ratio |
1 |
cis |
NA |
| Childhood intelligence |
0.05 |
0.0591 |
0.398 |
Wald ratio |
1 |
trans |
NA |
| Knee osteoarthritis |
0.0878 |
0.124 |
0.479 |
Wald ratio |
1 |
trans |
NA |
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3723_1_2 |
BNP-32 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
83 association rows across 49 traits (78 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 |
| Circulating NTproBNP levels (id: OID01214_OID20125) |
7e-506 |
rs198389 |
2 |
GCST90860419 |
no MR -> candidate analysis |
| Circulating NTproBNP levels (id: OID00455_OID20125) |
2e-468 |
rs198389 |
2 |
GCST90859816 |
no MR -> candidate analysis |
| Circulating NTproBNP levels (id: OID00131_OID20125) |
4e-409 |
rs198389 |
2 |
GCST90859652 |
no MR -> candidate analysis |
| Circulating NPPB levels (id: OID01214_OID20049) |
3e-292 |
rs198389 |
1 |
GCST90860418 |
no MR -> candidate analysis |
| Circulating NPPB levels (id: OID00455_OID20049) |
7e-260 |
rs198389 |
1 |
GCST90859815 |
no MR -> candidate analysis |
| Circulating NPPB levels (id: OID00131_OID20049) |
3e-200 |
rs198389 |
1 |
GCST90859651 |
no MR -> candidate analysis |
| NPPB protein levels |
5e-174 |
rs198389 |
1 |
GCST90470074 |
no MR -> candidate analysis |
| B-type natriuretic peptide to N-terminal pro B-type natriure |
5e-103 |
rs61761991 |
1 |
GCST005208 |
no MR -> candidate analysis |
| NTPROBNP protein levels |
1e-84 |
rs5229 |
2 |
GCST90470096 |
no MR -> candidate analysis |
| N-terminal pro-BNP levels |
9e-80 |
rs198379 |
4 |
GCST90248745 |
no MR -> candidate analysis |
| N-terminal prohormone brain natriuretic peptide levels |
3e-77 |
rs198389 |
2 |
GCST90012082 |
no MR -> candidate analysis |
| N-terminal pro B-type natriuretic peptide levels |
9e-68 |
rs61761991 |
2 |
GCST005205 |
no MR -> candidate analysis |
| …and 37 more traits (see JSON) |
|
|
|
|
|
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 1371 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 |
| hypertensive disorder |
0.76 |
— |
common-variant locus |
no MR -> candidate analysis |
| Increased blood pressure |
0.634 |
— |
common-variant locus |
no MR -> candidate analysis |
| major depressive disorder |
0.294 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.307 |
— |
common-variant locus |
no MR -> candidate analysis |
| viral eye infection |
0.302 |
— |
common-variant locus |
no MR -> candidate analysis |
| spinal cord injury |
0.3 |
— |
common-variant locus |
no MR -> candidate analysis |
| ankylosing spondylitis |
0.289 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 7 rows above, 7 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.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
not available — no ChEMBL target (undrugged) |
| gnomAD constraint |
pLI=2.1e-05, LOEUF=1.63 — LoF-tolerant |
| GWAS Catalog |
241 unique SNPs / 580 rows |
| ClinVar |
84 records; 5 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 1371 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 ‘NPPB’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 84 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 49 traits by best p-value, aggregated from 83 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/P16860 — 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/ENSG00000120937/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/NPPB — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/NPPB — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=NPPB%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/NPPB — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T04:02:23 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: none