Protein Dossier — ROR1 (Inactive tyrosine-protein kinase transmembrane receptor ROR1)
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 |
| Body mass index (BMI) |
-0.022 |
0.00727 |
0.00245 |
Wald ratio |
1 |
cis |
NA |
| Birth weight |
0.0255 |
0.0107 |
0.0172 |
Wald ratio |
1 |
cis |
NA |
| Weight |
-0.0145 |
0.00642 |
0.0236 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: diverticular disease or diverticulitis |
0.136 |
0.0602 |
0.0239 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: anxiety or panic attacks |
-0.16 |
0.074 |
0.0302 |
Wald ratio |
1 |
cis |
NA |
| Thalamus volume |
-38.4 |
19 |
0.0439 |
Wald ratio |
1 |
cis |
NA |
| Hearing difficulty or problems: Yes |
-0.0257 |
0.0129 |
0.046 |
Wald ratio |
1 |
cis |
NA |
| Fractured bone site(s): Ankle |
0.11 |
0.0558 |
0.0481 |
Wald ratio |
1 |
cis |
NA |
| Low grade serous ovarian cancer |
-0.271 |
0.143 |
0.0574 |
Wald ratio |
1 |
cis |
NA |
| Putamen volume |
-34.4 |
18.2 |
0.0591 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M72 Fibroblastic disorders |
0.157 |
0.0853 |
0.0664 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R35 Polyuria |
-0.291 |
0.161 |
0.0705 |
Wald ratio |
1 |
cis |
NA |
| …and 53 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2590_69_4 |
ROR1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
111 association rows across 77 traits (96 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 |
| IFNGR1/ROR1 protein level ratio |
4e-736 |
rs1408416 |
1 |
GCST90315129 |
no MR -> candidate analysis |
| ROR1/THBD protein level ratio |
1e-713 |
rs1408416 |
1 |
GCST90315786 |
no MR -> candidate analysis |
| ROR1/TNFRSF21 protein level ratio |
3e-648 |
rs1408416 |
1 |
GCST90315787 |
no MR -> candidate analysis |
| Circulating ROR1 levels |
2e-549 |
rs1408416 |
4 |
GCST90860415 |
no MR -> candidate analysis |
| CD58/ROR1 protein level ratio |
9e-503 |
rs1408416 |
1 |
GCST90313854 |
no MR -> candidate analysis |
| HYOU1/ROR1 protein level ratio |
6e-485 |
rs1408416 |
1 |
GCST90315104 |
no MR -> candidate analysis |
| LRP11/ROR1 protein level ratio |
1e-443 |
rs1408416 |
1 |
GCST90315330 |
no MR -> candidate analysis |
| CANT1/ROR1 protein level ratio |
1e-440 |
rs1408416 |
1 |
GCST90313620 |
no MR -> candidate analysis |
| Bone mineral density mean |
1e-300 |
rs115515529 |
2 |
GCST90321120 |
no MR -> candidate analysis |
| IL18BP/ROR1 protein level ratio |
4e-204 |
rs2806542 |
1 |
GCST90315155 |
no MR -> candidate analysis |
| Inactive tyrosine-protein kinase transmembrane receptor ROR1 |
4e-41 |
rs61765448 |
2 |
GCST90249359 |
no MR -> candidate analysis |
| Tyrosine-protein kinase transmembrane receptor ROR1 levels ( |
2e-40 |
rs1408416 |
1 |
GCST90243210 |
no MR -> candidate analysis |
| …and 65 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 630 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 |
| hearing loss, autosomal recessive |
0.535 |
— |
established (curated) |
no MR -> candidate analysis |
| Abnormality of the skeletal system |
0.639 |
— |
common-variant locus |
no MR -> candidate analysis |
| cervical carcinoma |
0.606 |
— |
common-variant locus |
no MR -> candidate analysis |
| thrombophilia |
0.482 |
— |
common-variant locus |
no MR -> candidate analysis |
| knee fracture |
0.482 |
— |
common-variant locus |
no MR -> candidate analysis |
| deafness |
0.243 |
— |
established (curated) |
no MR -> candidate analysis |
| fracture of pelvis |
0.442 |
— |
common-variant locus |
no MR -> candidate analysis |
| septic shock |
0.427 |
— |
common-variant locus |
no MR -> candidate analysis |
| smoking initiation |
0.361 |
— |
common-variant locus |
no MR -> candidate analysis |
| benign neoplasm |
0.354 |
— |
common-variant locus |
no MR -> candidate analysis |
| pneumoconiosis |
0.354 |
— |
common-variant locus |
no MR -> candidate analysis |
| respiratory system disorder |
0.354 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 12 rows above, 12 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 |
1 known modulators (Inactive tyrosine-protein kinase transmembrane receptor ROR1) |
| gnomAD constraint |
pLI=1, LOEUF=0.354 — LoF-INTOLERANT |
| GWAS Catalog |
92 unique SNPs / 179 rows |
| ClinVar |
320 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 630 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 ‘ROR1’ and resolved to ‘Inactive tyrosine-protein kinase transmembrane receptor ROR1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 320 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 77 traits by best p-value, aggregated from 111 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/Q01973 — 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/ENSG00000185483/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4665585/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/ROR1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ROR1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ROR1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ROR1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T04:52:13 · 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