Protein Dossier — SPINT1 (Kunitz-type protease inhibitor 1)
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 |
| Thyroid cancer |
-1.23 |
0.237 |
2.37e-07 |
Wald ratio |
1 |
trans |
0.99 |
| Age at menopause |
0.282 |
0.0564 |
5.73e-07 |
Wald ratio |
1 |
trans |
NA |
| Happiness |
-0.0247 |
0.00841 |
0.00326 |
Wald ratio |
1 |
trans |
NA |
| Heel bone mineral density (BMD) T-score automated |
-0.0231 |
0.0088 |
0.00863 |
Wald ratio |
1 |
trans |
NA |
| Glioma |
-0.316 |
0.125 |
0.0114 |
Wald ratio |
1 |
trans |
NA |
| Height |
0.0192 |
0.00819 |
0.019 |
Wald ratio |
1 |
trans |
NA |
| Putamen volume |
-38.3 |
16.6 |
0.0207 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: C50 Malignant neoplasm of breast |
0.106 |
0.0479 |
0.0272 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: R10 Abdominal and pelvic pain |
0.0652 |
0.0308 |
0.0341 |
Wald ratio |
1 |
trans |
NA |
| Amyotrophic lateral sclerosis |
-0.1 |
0.0502 |
0.0461 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] |
0.102 |
0.0512 |
0.0476 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: enlarged prostate |
0.103 |
0.0526 |
0.0501 |
Wald ratio |
1 |
trans |
NA |
| …and 96 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2828_82_2 |
HAI-1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
33 association rows across 19 traits (31 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 SPINT1 levels |
4e-517 |
rs17658212 |
4 |
GCST90860652 |
no MR -> candidate analysis |
| CDSN protein levels |
5e-139 |
rs17658212 |
3 |
GCST90468688 |
no MR -> candidate analysis |
| Circulating CDSN levels |
9e-114 |
rs17658212 |
3 |
GCST90860191 |
no MR -> candidate analysis |
| PSAPL1 protein levels |
3e-96 |
rs17658212 |
3 |
GCST90470350 |
no MR -> candidate analysis |
| Kunitz-type protease inhibitor 1 levels |
2e-84 |
rs10220885 |
4 |
GCST90137690 |
no MR -> candidate analysis |
| Kunitz-type protease inhibitor 1 level in Chronic kidney dis |
4e-66 |
rs12323939 |
1 |
GCST90237108 |
no MR -> candidate analysis |
| SPINT1 protein levels |
2e-38 |
rs117454282 |
2 |
GCST90470727 |
no MR -> candidate analysis |
| PYDC1 protein levels |
3e-33 |
rs17658212 |
1 |
GCST90470397 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein SPINT1 levels |
6e-26 |
rs17658212 |
1 |
GCST90944902 |
no MR -> candidate analysis |
| DnaJ homolog subfamily C member 17 levels (DNAJC17.14655.1.3 |
6e-19 |
rs11549914 |
1 |
GCST90240958 |
no MR -> candidate analysis |
| Serum levels of protein SPINT1 |
2e-17 |
rs17658212 |
1 |
GCST90088089 |
no MR -> candidate analysis |
| LGALS7 or LGALS7B protein levels |
4e-16 |
rs17658212 |
1 |
GCST90469763 |
no MR -> candidate analysis |
| …and 7 more traits (see JSON) |
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|
|
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
No genetically-associated diseases retrieved from Open Targets.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
0 known modulators (Protein cereblon/Kunitz-type protease inhibitor 1) |
| gnomAD constraint |
pLI=1.3e-09, LOEUF=0.927 — LoF-tolerant |
| GWAS Catalog |
49 unique SNPs / 98 rows |
| ClinVar |
125 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 180 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 ‘SPINT1’ and resolved to ‘Protein cereblon/Kunitz-type protease inhibitor 1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 125 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 19 of 19 traits by best p-value, aggregated from 33 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/O43278 — 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/ENSG00000166145/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4742262/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/SPINT1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SPINT1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SPINT1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/SPINT1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T05:12:37 · 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