Protein Dossier — SERPINF2 (Alpha-2-antiplasmin)
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 |
| Heel bone mineral density (BMD) T-score automated |
0.0514 |
0.017 |
0.00255 |
Wald ratio |
1 |
cis |
NA |
| Creatinine (enzymatic) in urine |
0.0375 |
0.0126 |
0.00291 |
Wald ratio |
1 |
cis |
NA |
| Potassium in urine |
0.0392 |
0.0134 |
0.00334 |
Wald ratio |
1 |
cis |
NA |
| Weight |
0.0285 |
0.0116 |
0.0142 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M54 Dorsalgia |
0.204 |
0.084 |
0.015 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Cataract |
-0.219 |
0.0903 |
0.0153 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: vaginal prolapse or uterine prolapse |
0.312 |
0.133 |
0.0192 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K60 Fissure and fistula of anal and rectal regions |
0.334 |
0.143 |
0.0194 |
Wald ratio |
1 |
cis |
NA |
| Body mass index (BMI) |
0.0307 |
0.0132 |
0.0196 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I80 Phlebitis and thrombophlebitis |
0.329 |
0.142 |
0.0207 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K57 Diverticular disease of intestine |
-0.268 |
0.123 |
0.0296 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I83 Varicose veins of lower extremities |
0.167 |
0.0783 |
0.0327 |
Wald ratio |
1 |
cis |
NA |
| …and 63 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3024_18_2 |
a2-Antiplasmin |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
50 association rows across 37 traits (45 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 |
| Albumin (maximum, inv-norm transformed) |
1e-60 |
rs2070863 |
1 |
GCST90479503 |
no MR -> candidate analysis |
| Serum albumin levels |
9e-53 |
rs1057335 |
3 |
GCST90019493 |
no MR -> candidate analysis |
| Albumin (mean, inv-norm transformed) |
2e-50 |
rs2070863 |
2 |
GCST90479504 |
no MR -> candidate analysis |
| Albumin levels |
3e-40 |
rs4790286 |
2 |
GCST90662867 |
no MR -> candidate analysis |
| Calcium levels |
4e-34 |
rs1057335 |
1 |
GCST90019500 |
no MR -> candidate analysis |
| Albumin (minimum, inv-norm transformed) |
6e-31 |
rs2070863 |
1 |
GCST90479505 |
no MR -> candidate analysis |
| Calcium (mean, inv-norm transformed) |
5e-30 |
rs2070863 |
1 |
GCST90479530 |
no MR -> candidate analysis |
| Triglyceride levels |
9e-29 |
rs7501750 |
1 |
GCST90662893 |
no MR -> candidate analysis |
| Calcium (maximum, inv-norm transformed) |
1e-26 |
rs2070863 |
1 |
GCST90479529 |
no MR -> candidate analysis |
| Alzheimer’s disease or family history of Alzheimer’s disease |
5e-23 |
rs1306536849 |
1 |
GCST90624094 |
no MR -> candidate analysis |
| Testosterone levels |
2e-20 |
rs3976 |
3 |
GCST90483498 |
no MR -> candidate analysis |
| Total testosterone levels |
3e-20 |
rs4525526 |
4 |
GCST90012113 |
no MR -> candidate analysis |
| …and 25 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 285 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 |
| alpha-2-plasmin inhibitor deficiency |
0.759 |
— |
established (curated) |
no MR -> candidate analysis |
| Congenital alpha2 antiplasmin deficiency |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| Abnormal bleeding |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| hypogonadism |
0.55 |
— |
common-variant locus |
no MR -> candidate analysis |
| Hodgkins lymphoma |
0.545 |
— |
common-variant locus |
no MR -> candidate analysis |
| metabolic disease |
0.456 |
— |
common-variant locus |
no MR -> candidate analysis |
| hyperlipidemia |
0.444 |
— |
common-variant locus |
no MR -> candidate analysis |
| adolescent idiopathic scoliosis |
0.204 |
— |
common-variant locus |
no MR -> candidate analysis |
| Abnormality of the skeletal system |
0.091 |
— |
common-variant locus |
no MR -> candidate analysis |
| Alzheimer disease |
0.042 |
— |
common-variant locus |
no MR -> candidate analysis |
| gout |
0.054 |
— |
common-variant locus |
MR: beta=-0.104, p=0.403 (cis) |
Of the 11 rows above, 10 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=0.97, LOEUF=0.513 — LoF-INTOLERANT |
| GWAS Catalog |
106 unique SNPs / 212 rows |
| ClinVar |
209 records; 4 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 285 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 ‘SERPINF2’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 209 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 37 traits by best p-value, aggregated from 50 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/P08697 — 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/ENSG00000167711/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/SERPINF2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SERPINF2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SERPINF2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/SERPINF2 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T05:03:15 · 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