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 |
| Lung cancer |
-0.183 |
0.0594 |
0.00211 |
Wald ratio |
1 |
cis |
NA |
| Squamous cell lung cancer |
-0.246 |
0.0899 |
0.00622 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K43 Ventral hernia |
0.263 |
0.0969 |
0.0066 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I83 Varicose veins of lower extremities |
0.13 |
0.0511 |
0.0109 |
Wald ratio |
1 |
cis |
NA |
| Depressive symptoms |
0.0326 |
0.013 |
0.0124 |
Wald ratio |
1 |
cis |
NA |
| Primary sclerosing cholangitis |
-0.296 |
0.121 |
0.0142 |
Wald ratio |
1 |
cis |
NA |
| Ferritin |
0.0809 |
0.0333 |
0.015 |
Wald ratio |
1 |
cis |
NA |
| Packed cell volume |
0.139 |
0.062 |
0.0246 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: C61 Malignant neoplasm of prostate |
0.189 |
0.0852 |
0.0269 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema |
-0.0875 |
0.0404 |
0.0304 |
Wald ratio |
1 |
cis |
NA |
| Putamen volume |
46.2 |
21.5 |
0.0318 |
Wald ratio |
1 |
cis |
NA |
| Happiness |
0.0212 |
0.0103 |
0.0405 |
Wald ratio |
1 |
cis |
NA |
| …and 97 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4534_10_2 |
BSSP4 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
11 association rows across 8 traits (10 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 |
| PRSS22 protein levels |
6e-262 |
rs8046218 |
2 |
GCST90470341 |
no MR -> candidate analysis |
| Brain-specific serine protease 4 levels |
1e-80 |
rs7204669 |
3 |
GCST90246746 |
no MR -> candidate analysis |
| Blood protein levels |
4e-24 |
rs7204669 |
1 |
GCST006585 |
no MR -> candidate analysis |
| Seborrheic dermatitis (PheCode 690.1) |
2e-23 |
rs8046218 |
1 |
GCST90480445 |
no MR -> candidate analysis |
| Erythematosquamous dermatosis (PheCode 690) |
5e-23 |
rs8046218 |
1 |
GCST90480446 |
no MR -> candidate analysis |
| red cell diameter width (RDW, maximum, inv-norm transformed) |
2e-11 |
rs73495044 |
1 |
GCST90480671 |
no MR -> candidate analysis |
| Gut microbial network clusters (Salmon (at 1 year) x Househo |
2e-8 |
rs4786345 |
1 |
GCST90569455 |
no MR -> candidate analysis |
| 3-hydroxypropylmercapturic acid levels in smokers |
4e-7 |
rs9925432 |
1 |
GCST002956 |
no MR -> candidate analysis |
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 70 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 |
| erythematosquamous dermatosis |
0.629 |
— |
common-variant locus |
no MR -> candidate analysis |
| seborrheic dermatitis |
0.623 |
— |
common-variant locus |
no MR -> candidate analysis |
| pulmonary vascular congestion |
0.066 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 3 rows above, 3 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=5.2e-09, LOEUF=1.29 — LoF-tolerant |
| GWAS Catalog |
46 unique SNPs / 92 rows |
| ClinVar |
101 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 70 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 ‘PRSS22’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 101 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 8 of 8 traits by best p-value, aggregated from 11 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/Q9GZN4 — 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/ENSG00000005001/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/PRSS22 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PRSS22 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PRSS22%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PRSS22 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T04:38:04 · 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