CausalSentinel

Protein Dossier — LRRC19 (Leucine-rich repeat-containing protein 19)

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
Forearm bone mineral density 0.0556 0.02 0.00544 Wald ratio 1 trans NA
Total cholesterol 0.0169 0.0067 0.0116 Wald ratio 1 trans NA
Red blood cell count -0.00742 0.00309 0.0164 Wald ratio 1 trans NA
Neuroticism -0.00928 0.00412 0.0244 Wald ratio 1 trans NA
Alzheimer’s disease 0.047 0.0217 0.0299 Wald ratio 1 trans NA
Serum cystatin C (eGFRcys) -0.00505 0.00237 0.0331 Wald ratio 1 trans NA
Femoral neck bone mineral density 0.0194 0.00954 0.0425 Wald ratio 1 trans NA
HDL cholesterol 0.012 0.00619 0.0532 Wald ratio 1 trans NA
Internalizing problems -0.0755 0.0417 0.07 Wald ratio 1 trans NA
High grade serous ovarian cancer 0.036 0.0205 0.0785 Wald ratio 1 trans NA
Neo-openness to experience 0.149 0.0895 0.095 Wald ratio 1 trans NA
Rheumatoid arthritis 0.0314 0.0189 0.0964 Wald ratio 1 trans NA
…and 35 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

1 association rows across 1 traits (0 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
Emphysema annual change measurement in smokers (adjusted lun 7e-6 rs145997721 1 GCST008477 no MR -> candidate analysis

4. Phenome map — where this gene is a genetic locus, vs. where MR exists

Top diseases by Open Targets association (of 68 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
sign or symptom 0.06 common-variant locus no MR -> candidate analysis
sialadenitis 0.049 common-variant locus no MR -> candidate analysis
aneurysm 0.048 common-variant locus no MR -> candidate analysis
nephrotic syndrome 0.035 common-variant locus no MR -> candidate analysis

Of the 4 rows above, 4 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=8.9e-12, LOEUF=1.33 — LoF-tolerant
GWAS Catalog 13 unique SNPs / 26 rows
ClinVar 155 records; 5 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance