Protein Dossier — LMNB1 (Lamin-B1)
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 |
| Cancer code self-reported: small intestine or small bowel cancer |
0.667 |
0.234 |
0.00442 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: depression |
-0.0927 |
0.0411 |
0.024 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] |
-0.149 |
0.0763 |
0.0509 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm) |
0.686 |
0.374 |
0.0668 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: pulmonary embolism (with or without) dvt |
-0.217 |
0.127 |
0.0886 |
Wald ratio |
1 |
cis |
NA |
| Vascular or heart problems diagnosed by doctor: Angina |
0.0794 |
0.0471 |
0.0914 |
Wald ratio |
1 |
cis |
NA |
| Cancer code self-reported: prostate cancer |
0.154 |
0.0918 |
0.0925 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K40 Inguinal hernia |
-0.101 |
0.0616 |
0.0999 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: H25 Senile cataract |
-0.211 |
0.13 |
0.106 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R10 Abdominal and pelvic pain |
0.0658 |
0.0411 |
0.109 |
Wald ratio |
1 |
cis |
NA |
| Diastolic blood pressure automated reading |
-0.0148 |
0.00928 |
0.111 |
Wald ratio |
1 |
cis |
NA |
| Forced expiratory volume in 1-second (FEV1) |
-0.0124 |
0.00785 |
0.114 |
Wald ratio |
1 |
cis |
NA |
| …and 51 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3889_64_2 |
Lamin-B1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
32 association rows across 23 traits (25 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 |
| Basophil percentage of white cells |
1e-70 |
rs2271352 |
2 |
GCST90002380 |
no MR -> candidate analysis |
| Basophil count |
1e-65 |
rs2271352 |
4 |
GCST90002292 |
no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) |
3e-53 |
rs34433938 |
2 |
GCST90838669 |
no MR -> candidate analysis |
| Height |
2e-32 |
rs3749830 |
3 |
GCST90245848 |
no MR -> candidate analysis |
| Basophil percentage of granulocytes |
3e-26 |
rs2271352 |
1 |
GCST004634 |
no MR -> candidate analysis |
| White blood cell count (basophil) |
1e-25 |
rs2271352 |
1 |
GCST004618 |
no MR -> candidate analysis |
| Lamin-B1 levels (LMNB1.3889.64.2) |
2e-24 |
rs36105360 |
1 |
GCST90241735 |
no MR -> candidate analysis |
| Serum levels of protein LMNB1 |
2e-21 |
rs36105360 |
1 |
GCST90088567 |
no MR -> candidate analysis |
| Lymphocyte forward scatter |
3e-18 |
rs145868030 |
1 |
GCST90281248 |
no MR -> candidate analysis |
| MEGF10 protein levels |
1e-14 |
rs147512661 |
3 |
GCST90469882 |
no MR -> candidate analysis |
| Photoreceptor cell layer thickness phenotypes (MTAG) |
5e-13 |
rs62391700 |
1 |
GCST90255614 |
no MR -> candidate analysis |
| Retinal detachments and defects (PheCode 361) |
6e-12 |
rs12515582 |
1 |
GCST90480042 |
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 725 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 |
| microcephaly 26, primary, autosomal dominant |
0.87 |
— |
established (curated) |
no MR -> candidate analysis |
| Autosomal dominant microcephaly |
0.833 |
— |
established (curated) |
no MR -> candidate analysis |
| Adult-onset autosomal dominant leukodystrophy |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| adult-onset autosomal dominant demyelinating leukodystrophy |
0.549 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary disease |
0.8 |
— |
established (curated) |
no MR -> candidate analysis |
| Syndrome with microcephaly as major feature |
0.801 |
— |
established (curated) |
no MR -> candidate analysis |
| autosomal dominant primary microcephaly |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| hypothyroidism |
0.524 |
— |
common-variant locus |
no MR -> candidate analysis |
| idiopathic pulmonary fibrosis |
0.458 |
— |
common-variant locus |
no MR -> candidate analysis |
| multinodular goiter |
0.388 |
— |
common-variant locus |
no MR -> candidate analysis |
| esophageal ulcer |
0.382 |
— |
common-variant locus |
no MR -> candidate analysis |
| breast cancer |
0.328 |
— |
common-variant locus |
no MR -> candidate analysis |
| retinal disorder |
0.362 |
— |
common-variant locus |
no MR -> candidate analysis |
| microcephaly |
0.182 |
— |
established (curated) |
no MR -> candidate analysis |
Of the 14 rows above, 14 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 (Lamin-B1) |
| gnomAD constraint |
pLI=0.99, LOEUF=0.486 — LoF-INTOLERANT |
| GWAS Catalog |
54 unique SNPs / 108 rows |
| ClinVar |
365 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 725 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 ‘LMNB1’ and resolved to ‘Lamin-B1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 365 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 32 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/P20700 — 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 v3.0phenome: https://platform.opentargets.org/target/ENSG00000113368/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5725026/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/LMNB1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/LMNB1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=LMNB1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/LMNB1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:36:27 · 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