CausalSentinel

Protein Dossier — DYNLL1 (Dynein light chain 1, cytoplasmic)

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
Diagnoses - main ICD10: J33 Nasal polyp 0.395 0.134 0.00323 Wald ratio 1 trans NA
Diagnoses - main ICD10: S76 Injury of muscle and tendon at hip and thigh level 0.82 0.315 0.00921 Wald ratio 1 trans NA
Fracture resulting from simple fall 0.0838 0.0326 0.0103 Wald ratio 1 trans NA
Vascular or heart problems diagnosed by doctor: Angina -0.25 0.0977 0.0105 Wald ratio 1 trans NA
Eye problems or disorders: Glaucoma -0.37 0.168 0.0277 Wald ratio 1 trans NA
Happiness 0.0363 0.0166 0.0293 Wald ratio 1 trans NA
Diagnoses - main ICD10: D25 Leiomyoma of uterus 0.201 0.098 0.0406 Wald ratio 1 trans NA
Sleep duration -0.0212 0.0105 0.043 Wald ratio 1 trans NA
Cancer code self-reported: small intestine or small bowel cancer 0.718 0.357 0.0441 Wald ratio 1 trans NA
Diagnoses - main ICD10: R07 Pain in throat and chest -0.136 0.0689 0.0481 Wald ratio 1 trans NA
Non-cancer illness code self-reported: hyperthyroidism or thyrotoxicosis 0.232 0.126 0.0657 Wald ratio 1 trans NA
Low grade serous ovarian cancer -0.584 0.325 0.0721 Wald ratio 1 trans NA
…and 52 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

Dataset Trait Author Year
prot-c-3881_49_2 DLC8 Suhre K 2019

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

30 association rows across 23 traits (30 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
High light scatter reticulocyte percentage of red cells 2e-83 rs4767902 3 GCST004612 no MR -> candidate analysis
High light scatter reticulocyte count 5e-78 rs11352199 2 GCST004611 no MR -> candidate analysis
Reticulocyte fraction of red cells 9e-68 rs11352199 2 GCST004619 no MR -> candidate analysis
Reticulocyte count 4e-66 rs4767902 2 GCST004622 no MR -> candidate analysis
Immature fraction of reticulocytes 6e-60 rs558163981 2 GCST004628 no MR -> candidate analysis
Mean spheric corpuscular volume 2e-52 rs1167688 1 GCST90002397 no MR -> candidate analysis
Mean corpuscular volume 2e-37 rs1167688 1 GCST90002392 no MR -> candidate analysis
C-reactive protein levels (MTAG) 9e-34 rs34179846 1 GCST90179146 no MR -> candidate analysis
C-reactive protein levels 4e-33 rs34179846 1 GCST90019499 no MR -> candidate analysis
Mean reticulocyte volume 4e-33 rs1167688 1 GCST90002396 no MR -> candidate analysis
Telomere length (principal component 1) 4e-32 rs111260157 1 GCST90435144 no MR -> candidate analysis
Mean platelet thrombocyte volume (UKB data field 30100) 5e-27 rs572586515 2 GCST90468087 no MR -> candidate analysis
…and 11 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 510 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
coenzyme q10 deficiency, primary, 9 0.547 established (curated) no MR -> candidate analysis
mathematical ability 0.224 common-variant locus no MR -> candidate analysis

Of the 2 rows above, 2 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 (Dynein light chain 1, cytoplasmic)
gnomAD constraint pLI=0.66, LOEUF=0.767 — LoF-tolerant
GWAS Catalog 108 unique SNPs / 228 rows
ClinVar 23 records; 15 pathogenic in sample of 23
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance