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) |
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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) |
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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 |
phenome — Top 30 of 510 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 ‘DYNLL1’ and resolved to ‘Dynein light chain 1, cytoplasmic’ — confirm this is the intended target.
clinvar — Pathogenic count is over the 23 record(s) retrieved, NOT over all 23 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 23 traits by best p-value, aggregated from 30 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/P63167 — 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 v3.0
phenome: https://platform.opentargets.org/target/ENSG00000088986/associations — Open Targets data release 26.06
chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5725118/ — ChEMBL_37 (released 2026-05-01)
gnomad: https://gnomad.broadinstitute.org/gene/DYNLL1 — gnomAD constraint via GraphQL API (reference genome GRCh38)
gwas: https://www.ebi.ac.uk/gwas/genes/DYNLL1 — GWAS Catalog REST (live; release not exposed by this endpoint)
clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=DYNLL1%5Bgene%5D — ClinVar build Build260809-1055.1
gwas_traits: https://www.ebi.ac.uk/gwas/genes/DYNLL1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:21:37 · 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