Protein Dossier — FGFR3 (Fibroblast growth factor receptor 3)
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 |
| Non-cancer illness code self-reported: hypopituitarism |
1.2 |
0.271 |
8.83e-06 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: osteoarthritis |
0.114 |
0.0456 |
0.0121 |
Wald ratio |
1 |
cis |
NA |
| Cancer code self-reported: prostate cancer |
0.325 |
0.132 |
0.0136 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: C61 Malignant neoplasm of prostate |
0.328 |
0.138 |
0.0171 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb |
0.213 |
0.0947 |
0.0246 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] |
-0.456 |
0.211 |
0.031 |
Wald ratio |
1 |
cis |
NA |
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
-0.154 |
0.0723 |
0.0329 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: N40 Hyperplasia of prostate |
0.26 |
0.125 |
0.0372 |
Wald ratio |
1 |
cis |
NA |
| Alcohol intake frequency |
-0.0465 |
0.0225 |
0.0388 |
Wald ratio |
1 |
cis |
NA |
| Pulse rate |
-0.0532 |
0.027 |
0.0485 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R35 Polyuria |
0.347 |
0.179 |
0.053 |
Wald ratio |
1 |
cis |
NA |
| Intracranial volume |
2.59e+04 |
1.4e+04 |
0.0648 |
Wald ratio |
1 |
cis |
NA |
| …and 53 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3809_1_2 |
FGFR-3 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
110 association rows across 65 traits (102 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 |
4e-63 |
rs1867926 |
11 |
GCST90245848 |
no MR -> candidate analysis |
| Type 2 diabetes |
4e-55 |
rs6831006 |
14 |
GCST90492734 |
MR: beta=-0.234, p=0.384 (cis) |
| Vertex-wise sulcal depth |
9e-48 |
rs11724531 |
1 |
GCST90095129 |
no MR -> candidate analysis |
| Standing height (UKB data field 50) |
9e-43 |
rs11731421 |
2 |
GCST90468178 |
no MR -> candidate analysis |
| Height (baseline) |
8e-36 |
rs11731421 |
5 |
GCST90565843 |
no MR -> candidate analysis |
| Osteoarthritis (with total knee replacement) |
2e-32 |
rs11731421 |
2 |
GCST90566805 |
no MR -> candidate analysis |
| Knee osteoarthritis |
2e-32 |
rs11731421 |
2 |
GCST90566800 |
no MR -> candidate analysis |
| Osteoarthritis |
4e-28 |
rs12509303 |
2 |
GCST90566795 |
MR: beta=0.114, p=0.0121 (cis) |
| Type 2 diabetes (PheCode 250.2) |
4e-26 |
rs56337234 |
2 |
GCST90475667 |
no MR -> candidate analysis |
| Diabetes mellitus (PheCode 250) |
1e-25 |
rs56337234 |
1 |
GCST90475658 |
no MR -> candidate analysis |
| Vertex-wise cortical surface area |
2e-25 |
rs13142863 |
1 |
GCST90095130 |
no MR -> candidate analysis |
| Osteoarthritis of the hip or knee |
3e-25 |
rs12509303 |
1 |
GCST90566799 |
no MR -> candidate analysis |
| …and 53 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 5225 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 |
| achondroplasia |
0.894 |
— |
established (curated) |
no MR -> candidate analysis |
| thanatophoric dysplasia type 1 |
0.9 |
— |
established (curated) |
no MR -> candidate analysis |
| Severe achondroplasia - developmental delay - acanthosis nigricans |
0.892 |
— |
established (curated) |
no MR -> candidate analysis |
| urinary bladder carcinoma |
0.865 |
— |
established (curated) |
no MR -> candidate analysis |
| hypochondroplasia |
0.869 |
— |
established (curated) |
no MR -> candidate analysis |
| Muenke syndrome |
0.836 |
— |
established (curated) |
no MR -> candidate analysis |
| urinary bladder cancer |
0.831 |
— |
established (curated) |
no MR -> candidate analysis |
| thanatophoric dysplasia type 2 |
0.835 |
— |
established (curated) |
no MR -> candidate analysis |
| Crouzon syndrome-acanthosis nigricans syndrome |
0.853 |
— |
established (curated) |
no MR -> candidate analysis |
| camptodactyly-tall stature-scoliosis-hearing loss syndrome |
0.853 |
— |
established (curated) |
no MR -> candidate analysis |
| thanatophoric dysplasia |
0.762 |
— |
established (curated) |
no MR -> candidate analysis |
| Crouzon syndrome - acanthosis nigricans |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| seborrheic keratosis |
0.842 |
— |
established (curated) |
no MR -> candidate analysis |
| nevus, epidermal |
0.904 |
— |
established (curated) |
no MR -> candidate analysis |
| Camptodactyly - tall stature - scoliosis - hearing loss |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
Of the 15 rows above, 15 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 |
9 known modulators (Fibroblast growth factor receptor 3) |
| gnomAD constraint |
pLI=1, LOEUF=0.421 — LoF-INTOLERANT |
| GWAS Catalog |
85 unique SNPs / 170 rows |
| ClinVar |
1472 records; 9 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 5225 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 ‘FGFR3’ and resolved to ‘Fibroblast growth factor receptor 3’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 1472 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 65 traits by best p-value, aggregated from 110 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/P22607 — 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/ENSG00000068078/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2742/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/FGFR3 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/FGFR3 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=FGFR3%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/FGFR3 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:40:50 · 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