Protein Dossier — MASP1 (Mannan-binding lectin serine protease 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 |
| Systolic blood pressure automated reading |
-0.0209 |
0.00727 |
0.00409 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: pernicious anaemia |
0.263 |
0.102 |
0.00965 |
Wald ratio |
1 |
trans |
NA |
| Sleep duration |
-0.0137 |
0.00554 |
0.0134 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: I30 Acute pericarditis |
0.573 |
0.245 |
0.0195 |
Wald ratio |
1 |
trans |
NA |
| Happiness |
0.0205 |
0.0088 |
0.0199 |
Wald ratio |
1 |
trans |
NA |
| Triglycerides |
-0.0339 |
0.0148 |
0.0221 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: migraine |
-0.103 |
0.0456 |
0.0238 |
Wald ratio |
1 |
trans |
NA |
| Pulse rate |
0.0268 |
0.0125 |
0.0324 |
Wald ratio |
1 |
trans |
NA |
| Microalbuminuria |
-0.131 |
0.0627 |
0.0365 |
Wald ratio |
1 |
trans |
NA |
| Eye problems or disorders: Diabetes related eye disease |
-0.247 |
0.118 |
0.0368 |
Wald ratio |
1 |
trans |
NA |
| Subjective well being |
-0.0171 |
0.00856 |
0.0455 |
Wald ratio |
1 |
trans |
NA |
| Percent emphysema |
0.077 |
0.0391 |
0.0487 |
Wald ratio |
1 |
trans |
NA |
| …and 94 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3605_77_4 |
MASP3 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
69 association rows across 43 traits (60 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 |
| Bone mineral density mean |
1e-300 |
rs190858137 |
1 |
GCST90321120 |
no MR -> candidate analysis |
| MASP1 protein levels |
1e-222 |
rs34053057 |
8 |
GCST90469863 |
no MR -> candidate analysis |
| Circulating MASP1 levels |
2e-210 |
rs62292760 |
8 |
GCST90860240 |
no MR -> candidate analysis |
| Serum levels of protein MASP1 |
4e-127 |
rs28945068 |
1 |
GCST90090044 |
no MR -> candidate analysis |
| Blood protein levels |
6e-43 |
rs28945068 |
1 |
GCST006585 |
no MR -> candidate analysis |
| FCN1 protein levels |
4e-23 |
rs850313 |
1 |
GCST90469203 |
no MR -> candidate analysis |
| Kidney-associated antigen 1 levels |
2e-21 |
rs1533593 |
1 |
GCST90248152 |
no MR -> candidate analysis |
| Descending aorta maximum area (MTAG) |
5e-21 |
rs698099 |
1 |
GCST90137451 |
no MR -> candidate analysis |
| Mannan-binding lectin serine protease 1 levels |
7e-21 |
rs34053057 |
2 |
GCST90248429 |
no MR -> candidate analysis |
| Connective tissue growth factor levels |
2e-19 |
rs3214401 |
1 |
GCST90137906 |
no MR -> candidate analysis |
| Descending aorta maximum area |
2e-19 |
rs698099 |
1 |
GCST90137442 |
no MR -> candidate analysis |
| Descending thoracic aortic diameter |
2e-16 |
rs698099 |
2 |
GCST90094401 |
no MR -> candidate analysis |
| …and 31 more traits (see JSON) |
|
|
|
|
|
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 438 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 |
| 3MC syndrome 1 |
0.913 |
— |
established (curated) |
no MR -> candidate analysis |
| 3MC syndrome |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary disease |
0.684 |
— |
established (curated) |
no MR -> candidate analysis |
| coronary atherosclerosis |
0.537 |
— |
common-variant locus |
no MR -> candidate analysis |
| coronary artery disorder |
0.53 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.533 |
— |
common-variant locus |
no MR -> candidate analysis |
| Furuncle |
0.419 |
— |
common-variant locus |
no MR -> candidate analysis |
| carbuncle |
0.419 |
— |
common-variant locus |
no MR -> candidate analysis |
| stroke disorder |
0.404 |
— |
common-variant locus |
no MR -> candidate analysis |
| corneal neovascularization |
0.388 |
— |
common-variant locus |
no MR -> candidate analysis |
| osteoarthritis, hip |
0.286 |
— |
common-variant locus |
MR: beta=0.146, p=0.0812 (trans) |
| hypertrophic cardiomyopathy |
0.182 |
— |
established (curated) |
no MR -> candidate analysis |
| microcephaly |
0.182 |
— |
established (curated) |
no MR -> candidate analysis |
Of the 13 rows above, 12 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 |
0 known modulators (Mannan-binding lectin serine protease 1) |
| gnomAD constraint |
pLI=9.5e-16, LOEUF=0.95 — LoF-tolerant |
| GWAS Catalog |
61 unique SNPs / 122 rows |
| ClinVar |
452 records; 5 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 438 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 ‘MASP1’ and resolved to ‘Mannan-binding lectin serine protease 1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 452 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 43 traits by best p-value, aggregated from 69 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/P48740 — 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/ENSG00000127241/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4295768/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/MASP1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/MASP1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=MASP1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/MASP1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:44:43 · 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