Protein Dossier — SERPINA4 (Kallistatin)
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 |
| Non-cancer illness code self-reported: bladder problem (not cancer) |
0.154 |
0.0472 |
0.00108 |
Inverse variance weighted |
2 |
cis |
NA |
| Non-cancer illness code self-reported: bladder problem (not cancer) |
0.154 |
0.0472 |
0.00108 |
Inverse variance weighted |
2 |
cis |
NA |
| Creatinine (enzymatic) in urine |
0.0113 |
0.00401 |
0.00472 |
Inverse variance weighted |
2 |
cis |
NA |
| Creatinine (enzymatic) in urine |
0.0113 |
0.00401 |
0.00472 |
Inverse variance weighted |
2 |
cis |
NA |
| Neo-neuroticism |
-0.412 |
0.162 |
0.011 |
Inverse variance weighted |
2 |
cis |
NA |
| Neo-neuroticism |
-0.412 |
0.162 |
0.011 |
Inverse variance weighted |
2 |
cis |
NA |
| Non-cancer illness code self-reported: hiatus hernia |
0.061 |
0.0259 |
0.0184 |
Inverse variance weighted |
2 |
cis |
NA |
| Non-cancer illness code self-reported: hiatus hernia |
0.061 |
0.0259 |
0.0184 |
Inverse variance weighted |
2 |
cis |
NA |
| Fracture resulting from simple fall |
-0.0248 |
0.0113 |
0.0281 |
Inverse variance weighted |
2 |
cis |
NA |
| Fracture resulting from simple fall |
-0.0248 |
0.0113 |
0.0281 |
Inverse variance weighted |
2 |
cis |
NA |
| Neo-agreeableness |
0.26 |
0.126 |
0.0391 |
Inverse variance weighted |
2 |
cis |
NA |
| Neo-agreeableness |
0.26 |
0.126 |
0.0391 |
Inverse variance weighted |
2 |
cis |
NA |
| …and 145 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3449_58_2 |
Kallistatin |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
90 association rows across 40 traits (86 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 SERPINA12 levels |
5e-3381 |
rs17091005 |
3 |
GCST90859783 |
no MR -> candidate analysis |
| Serpin A12 levels |
1e-382 |
rs4900235 |
2 |
GCST90249609 |
no MR -> candidate analysis |
| Serum levels of protein SERPINA4 |
2e-135 |
rs5511 |
3 |
GCST90088394 |
no MR -> candidate analysis |
| Kallistatin levels (SERPINA4.3449.58.2) |
5e-110 |
rs10139745 |
6 |
GCST90241682 |
no MR -> candidate analysis |
| KLK13 protein levels |
2e-101 |
rs5511 |
2 |
GCST90469699 |
no MR -> candidate analysis |
| SERPINA12 protein levels |
2e-96 |
rs17752932 |
10 |
GCST90470581 |
no MR -> candidate analysis |
| Kallistatin levels |
1e-95 |
rs5511 |
9 |
GCST90161793 |
no MR -> candidate analysis |
| Circulating KLK13 levels |
8e-95 |
rs5511 |
3 |
GCST90860002 |
no MR -> candidate analysis |
| Serum levels of protein SERPINA12 |
3e-69 |
rs4900235 |
1 |
GCST90089492 |
no MR -> candidate analysis |
| Circulating GDF2 levels |
2e-66 |
rs4905214 |
1 |
GCST90859810 |
no MR -> candidate analysis |
| SERPINA4 protein levels |
1e-62 |
rs10139745 |
13 |
GCST90453221 |
no MR -> candidate analysis |
| Protein S100-A10 levels |
3e-52 |
rs5511 |
1 |
GCST90249400 |
no MR -> candidate analysis |
| …and 28 more traits (see JSON) |
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 230 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 |
| optic atrophy |
0.392 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 1 rows above, 1 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=1.6e-08, LOEUF=1.33 — LoF-tolerant |
| GWAS Catalog |
170 unique SNPs / 441 rows |
| ClinVar |
119 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 230 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 ‘SERPINA4’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 119 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 40 traits by best p-value, aggregated from 90 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/P29622 — 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/ENSG00000100665/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/SERPINA4 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SERPINA4 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SERPINA4%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/SERPINA4 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T05:01:58 · 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