Protein Dossier — SERPING1 (Plasma protease C1 inhibitor)
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 |
| Schizophrenia |
-0.0836 |
0.0196 |
2.02e-05 |
Wald ratio |
1 |
cis |
NA |
| Lung cancer |
-0.142 |
0.0357 |
6.96e-05 |
Wald ratio |
1 |
cis |
NA |
| Systolic blood pressure automated reading |
0.0181 |
0.00462 |
8.68e-05 |
Wald ratio |
1 |
cis |
NA |
| Alcohol intake frequency |
-0.0249 |
0.00668 |
1.90e-04 |
Wald ratio |
1 |
cis |
NA |
| Forced expiratory volume in 1-second (FEV1) |
0.0144 |
0.00391 |
2.21e-04 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: migraine |
-0.0913 |
0.0286 |
0.00142 |
Wald ratio |
1 |
cis |
NA |
| Mean cell haemoglobin |
0.057 |
0.0183 |
0.00182 |
Wald ratio |
1 |
cis |
NA |
| Squamous cell lung cancer |
-0.172 |
0.0553 |
0.00186 |
Wald ratio |
1 |
cis |
NA |
| Red blood cell count |
-0.012 |
0.00399 |
0.0027 |
Wald ratio |
1 |
cis |
NA |
| Depressive symptoms |
-0.0183 |
0.00665 |
0.00596 |
Wald ratio |
1 |
cis |
NA |
| Neuroticism |
-0.0183 |
0.00665 |
0.00596 |
Wald ratio |
1 |
cis |
NA |
| Sleep duration |
0.00964 |
0.00353 |
0.00626 |
Wald ratio |
1 |
cis |
NA |
| …and 111 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4479_14_2 |
C1-Esterase Inhibitor |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
100 association rows across 75 traits (96 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 |
| Plasma protease C1 inhibitor levels |
3e-1115 |
rs11606677 |
5 |
GCST90249086 |
no MR -> candidate analysis |
| Plasma protease C1 inhibitor (analyte X13710.6) levels |
2e-351 |
rs10896631 |
1 |
GCST90422317 |
no MR -> candidate analysis |
| Blood protein levels |
4e-328 |
rs11229080 |
10 |
GCST006585 |
no MR -> candidate analysis |
| UBE2L6 protein levels |
1e-236 |
rs144256346 |
2 |
GCST90471001 |
no MR -> candidate analysis |
| SERPING1 protein levels |
7e-182 |
rs28362944 |
1 |
GCST90470600 |
no MR -> candidate analysis |
| Plasma protease C1 inhibitor levels (SERPING1.4479.14.2) |
1e-119 |
rs11229075 |
1 |
GCST90242274 |
no MR -> candidate analysis |
| Plasma protease C1 inhibitor (analyte X4479.14) levels |
5e-52 |
rs11229075 |
1 |
GCST90426051 |
no MR -> candidate analysis |
| Serum levels of protein C1R |
6e-52 |
rs11229063 |
1 |
GCST90088290 |
no MR -> candidate analysis |
| Mean platelet thrombocyte volume (UKB data field 30100) |
2e-46 |
rs10750866 |
1 |
GCST90468087 |
no MR -> candidate analysis |
| Circulating MASP1 levels |
4e-45 |
rs4926 |
1 |
GCST90860240 |
no MR -> candidate analysis |
| mean corpuscular hemoglobin (MCH, maximum, inv-norm transfor |
1e-41 |
rs73480556 |
2 |
GCST90475442 |
no MR -> candidate analysis |
| MASP1 protein levels |
3e-40 |
rs4926 |
1 |
GCST90469863 |
no MR -> candidate analysis |
| …and 63 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 886 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 |
| hereditary angioedema with C1Inh deficiency |
0.961 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary angioedema type 1 |
0.878 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary angioedema |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| angioedema |
0.861 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary angioedema type 2 |
0.805 |
— |
established (curated) |
no MR -> candidate analysis |
| C1 inhibitor deficiency |
0.813 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary disease |
0.86 |
— |
established (curated) |
no MR -> candidate analysis |
| asthma |
0.763 |
— |
common-variant locus |
MR: beta=-0.0124, p=0.333 (cis) |
| Chronic Obstructive Asthma |
0.566 |
— |
common-variant locus |
no MR -> candidate analysis |
| pneumonia |
0.516 |
— |
common-variant locus |
no MR -> candidate analysis |
| immune system disorder |
0.39 |
0.39 |
exploratory rare-variant signal |
no MR -> candidate analysis |
| lower respiratory tract disorder |
0.394 |
— |
common-variant locus |
no MR -> candidate analysis |
| Anxiety |
0.354 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.362 |
— |
common-variant locus |
no MR -> candidate analysis |
| schizophrenia |
0.35 |
— |
common-variant locus |
MR: beta=-0.0836, p=2.02e-05 (cis) |
Of the 15 rows above, 13 have no MR estimate in this resource. Across all retrieved diseases for this gene: 3 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 |
1 known modulators (Plasma protease C1 inhibitor) |
| gnomAD constraint |
pLI=1, LOEUF=0.308 — LoF-INTOLERANT |
| GWAS Catalog |
104 unique SNPs / 201 rows |
| ClinVar |
907 records; 6 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 886 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 ‘SERPING1’ and resolved to ‘Plasma protease C1 inhibitor’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 907 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 75 traits by best p-value, aggregated from 100 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/P05155 — 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/ENSG00000149131/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5305024/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/SERPING1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SERPING1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SERPING1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/SERPING1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T05:03:33 · 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