CausalSentinel

Protein Dossier — SERPINA11 (Serpin A11)

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
Fasting insulin -0.0451 0.0153 0.00313 Wald ratio 1 cis NA
Non-cancer illness code self-reported: joint disorder 0.318 0.119 0.00758 Wald ratio 1 cis NA
Non-cancer illness code self-reported: deep venous thrombosis (dvt) 0.174 0.0659 0.0083 Wald ratio 1 cis NA
HOMA-IR -0.0486 0.0201 0.0158 Wald ratio 1 cis NA
Low grade serous ovarian cancer 0.547 0.233 0.0191 Wald ratio 1 cis NA
Non-cancer illness code self-reported: hypertension 0.0412 0.018 0.0222 Wald ratio 1 cis NA
Hirschsprung’s disease -1.23 0.542 0.0228 Wald ratio 1 cis NA
Age at menarche 0.059 0.027 0.029 Wald ratio 1 cis NA
Myocardial infarction -0.101 0.0473 0.0325 Wald ratio 1 cis NA
Nucleus accumbens volume -10.5 5.27 0.0461 Wald ratio 1 cis NA
Lumbar spine bone mineral density -0.0824 0.0418 0.0484 Wald ratio 1 cis NA
Subjective well being 0.0243 0.0139 0.0801 Wald ratio 1 cis NA
…and 93 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).

3. GWAS Catalog results — traits with signal at this locus

64 association rows across 29 traits (58 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 SERPINA9 levels 4e-957 rs2402447 4 GCST90860312 no MR -> candidate analysis
SERPINA9 protein levels 4e-302 rs55664577 6 GCST90470588 no MR -> candidate analysis
Height 3e-140 rs7151526 1 GCST90245848 MR: beta=-0.0135, p=0.353 (cis)
SERPINA11 protein levels 1e-101 rs1957042 15 GCST90453321 no MR -> candidate analysis
Circulating GDF2 levels 4e-94 rs1956721 3 GCST90859810 no MR -> candidate analysis
Serpin A11 levels 4e-89 rs56026704 1 GCST90249608 no MR -> candidate analysis
GDF2 protein levels 2e-50 rs61738925 1 GCST90469322 no MR -> candidate analysis
SERPINA12 protein levels 3e-40 rs17751962 4 GCST90470581 no MR -> candidate analysis
BMP10 protein levels 8e-40 rs7152610 2 GCST90468452 no MR -> candidate analysis
SERPINA4 protein levels 3e-37 rs1951020 4 GCST90470584 no MR -> candidate analysis
Serum levels of protein NCF2 1e-35 rs112963922 1 GCST90086205 no MR -> candidate analysis
Serum levels of protein MRPL33 6e-34 rs112963922 1 GCST90087451 no MR -> candidate analysis
…and 17 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 34 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
alcohol drinking 0.52 common-variant locus no MR -> candidate analysis
Pleural effusion 0.438 established (curated) no MR -> candidate analysis
pericardial effusion 0.438 established (curated) no MR -> candidate analysis
stroke disorder 0.366 common-variant locus no MR -> candidate analysis
Non-immune hydrops fetalis 0.182 established (curated) no MR -> candidate analysis
respiratory system disorder 0.177 common-variant locus no MR -> candidate analysis
acute tonsillitis 0.095 common-variant locus no MR -> candidate analysis
placenta praevia 0.065 common-variant locus no MR -> candidate analysis

Of the 8 rows above, 8 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=8.3e-10, LOEUF=1.3 — LoF-tolerant
GWAS Catalog 160 unique SNPs / 424 rows
ClinVar 108 records; 0 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance