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 |
phenome — Top 30 of 119 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.
chembl — No ChEMBL target for ‘DYNLRB1’.
clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 36 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 15 of 15 traits by best p-value, aggregated from 20 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/Q9NP97 — 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/ENSG00000125971/associations — Open Targets data release 26.06
gnomad: https://gnomad.broadinstitute.org/gene/DYNLRB1 — gnomAD constraint via GraphQL API (reference genome GRCh38)
gwas: https://www.ebi.ac.uk/gwas/genes/DYNLRB1 — GWAS Catalog REST (live; release not exposed by this endpoint)
clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=DYNLRB1%5Bgene%5D — ClinVar build Build260809-1055.1
gwas_traits: https://www.ebi.ac.uk/gwas/genes/DYNLRB1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:22:04 · 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