CausalSentinel

Protein Dossier — DYNLRB1 (Dynein light chain roadblock-type 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
Juvenile idiopathic arthritis 0.481 0.189 0.0108 Wald ratio 1 trans NA
Fractured bone site(s): Ankle 0.0767 0.0315 0.0149 Inverse variance weighted 2 trans NA
Fractured bone site(s): Ankle 0.0767 0.0315 0.0149 Inverse variance weighted 2 trans NA
Urate -0.023 0.00979 0.0186 Inverse variance weighted 2 trans NA
Urate -0.023 0.00979 0.0186 Inverse variance weighted 2 trans NA
Happiness 0.0107 0.00492 0.0294 Inverse variance weighted 2 trans NA
Happiness 0.0107 0.00492 0.0294 Inverse variance weighted 2 trans NA
Age at menopause -0.0682 0.0314 0.0299 Inverse variance weighted 2 trans NA
Age at menopause -0.0682 0.0314 0.0299 Inverse variance weighted 2 trans NA
Potassium in urine -0.00872 0.00404 0.0311 Inverse variance weighted 2 trans NA
Potassium in urine -0.00872 0.00404 0.0311 Inverse variance weighted 2 trans NA
Diagnoses - main ICD10: K57 Diverticular disease of intestine -0.0616 0.0298 0.0389 Inverse variance weighted 2 trans NA
…and 171 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

Dataset Trait Author Year
prot-c-3845_51_2 DLRB1 Suhre K 2019

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

20 association rows across 15 traits (19 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
Height (baseline) 4e-23 rs565264627 1 GCST90565843 no MR -> candidate analysis
Height 1e-21 rs8115449 2 GCST90245848 no MR -> candidate analysis
Alanine aminotransferase levels 1e-18 rs6088521 1 GCST90011898 no MR -> candidate analysis
Multi-trait sex score 3e-17 rs6088520 2 GCST90270116 no MR -> candidate analysis
Hip circumference (UKB data field 49) 2e-16 rs2424994 1 GCST90468170 no MR -> candidate analysis
BPIFB1 protein levels 1e-13 rs142166527 1 GCST90468462 no MR -> candidate analysis
Chronic elevation of alanine aminotransferase (cALT) levels 2e-13 rs6059896 1 GCST90129601 no MR -> candidate analysis
Bipolar disorder or glomerular filtration rate estimated fro 5e-13 rs6059908 1 GCST90446210 no MR -> candidate analysis
FEV1 7e-13 rs8116198 1 GCST90270081 no MR -> candidate analysis
FVC 6e-12 rs8116198 1 GCST90270083 no MR -> candidate analysis
Triglycerides to Total Lipids in Small LDL percentage 6e-12 rs6088521 1 GCST90501257 no MR -> candidate analysis
Pulse pressure 2e-11 rs6141479 3 GCST006629 no MR -> candidate analysis
…and 3 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 119 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
arthropathy 0.393 common-variant locus no MR -> candidate analysis
androgenetic alopecia 0.213 common-variant locus no MR -> candidate analysis
metabolic syndrome 0.198 common-variant locus no MR -> candidate analysis
kidney failure 0.134 common-variant locus no MR -> candidate analysis
venous thromboembolism 0.116 common-variant locus no MR -> candidate analysis
Thromboembolism 0.11 common-variant locus no MR -> candidate analysis
type 2 diabetes mellitus 0.101 common-variant locus no MR -> candidate analysis
phlebitis 0.104 common-variant locus MR: beta=-0.0574, p=0.355 (trans)
Thrombophlebitis 0.104 common-variant locus MR: beta=-0.0574, p=0.355 (trans)
deep vein thrombosis 0.098 common-variant locus no MR -> candidate analysis
heart disorder 0.096 common-variant locus no MR -> candidate analysis
Pulmonary Infarction 0.094 common-variant locus no MR -> candidate analysis
pulmonary embolism 0.094 common-variant locus no MR -> candidate analysis
bipolar disorder 0.069 common-variant locus no MR -> candidate analysis
diabetes mellitus 0.051 common-variant locus no MR -> candidate analysis

Of the 15 rows above, 13 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=0.21, LOEUF=0.877 — LoF-tolerant
GWAS Catalog 72 unique SNPs / 144 rows
ClinVar 36 records; 8 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance