Protein Dossier — CX3CL1 (Fractalkine)
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) |
0.0465 |
0.0135 |
5.66e-04 |
Wald ratio |
1 |
cis |
NA |
| Weight |
0.0377 |
0.0119 |
0.00154 |
Wald ratio |
1 |
cis |
NA |
| Fractured or broken bones in last 5 years |
0.113 |
0.0376 |
0.00269 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I83 Varicose veins of lower extremities |
0.202 |
0.0774 |
0.0091 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertension |
0.0565 |
0.0217 |
0.00928 |
Wald ratio |
1 |
cis |
NA |
| Fractured bone site(s): Other bones |
0.123 |
0.052 |
0.0182 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: uterine fibroids |
-0.38 |
0.165 |
0.021 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M23 Internal derangement of knee |
0.171 |
0.0769 |
0.0259 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: C50 Malignant neoplasm of breast |
0.194 |
0.0875 |
0.0264 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Glaucoma |
-0.358 |
0.166 |
0.0314 |
Wald ratio |
1 |
cis |
NA |
| Vascular or heart problems diagnosed by doctor: Angina |
0.138 |
0.0662 |
0.0377 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R10 Abdominal and pelvic pain |
0.111 |
0.0585 |
0.0585 |
Wald ratio |
1 |
cis |
NA |
| …and 62 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2827_23_2 |
Fractalkine/CX3CL-1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
28 association rows across 22 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 |
| Circulating CX3CL1 levels (id: OID00552_OID20976) |
4e-311 |
rs671623 |
2 |
GCST90859902 |
no MR -> candidate analysis |
| CX3CL1 protein levels |
8e-248 |
rs781264602 |
2 |
GCST90468921 |
no MR -> candidate analysis |
| Circulating CX3CL1 levels (id: OID00806_OID20976) |
4e-224 |
rs671623 |
2 |
GCST90860136 |
no MR -> candidate analysis |
| CX3CL1/EPHB6 protein level ratio |
6e-147 |
rs170361 |
1 |
GCST90314324 |
no MR -> candidate analysis |
| CX3CL1/LAYN protein level ratio |
5e-140 |
rs170361 |
1 |
GCST90314325 |
no MR -> candidate analysis |
| CCL17/CCL22 protein level ratio |
3e-133 |
rs801506 |
1 |
GCST90313682 |
no MR -> candidate analysis |
| CCL17 protein levels |
1e-113 |
rs8102 |
1 |
GCST90468569 |
no MR -> candidate analysis |
| CX3CL1 levels |
3e-86 |
rs683544 |
1 |
GCST90012074 |
no MR -> candidate analysis |
| CCL17/CXCL3 protein level ratio |
4e-70 |
rs62037082 |
1 |
GCST90313685 |
no MR -> candidate analysis |
| CCL17/CD69 protein level ratio |
6e-70 |
rs62037082 |
1 |
GCST90313684 |
no MR -> candidate analysis |
| Fractalkine levels |
1e-66 |
rs671623 |
3 |
GCST90274778 |
no MR -> candidate analysis |
| C-C motif chemokine 22 levels |
2e-38 |
rs170364 |
1 |
GCST90246911 |
no MR -> candidate analysis |
| …and 10 more traits (see JSON) |
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
No genetically-associated diseases retrieved from Open Targets.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
1 known modulators (Fractalkine) |
| gnomAD constraint |
not available |
| GWAS Catalog |
72 unique SNPs / 144 rows |
| ClinVar |
121 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 817 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 ‘CX3CL1’ and resolved to ‘Fractalkine’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 121 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 22 traits by best p-value, aggregated from 28 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/P78423 — 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/ENSG00000006210/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4630883/ — ChEMBL_37 (released 2026-05-01)gwas: https://www.ebi.ac.uk/gwas/genes/CX3CL1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CX3CL1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CX3CL1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:12:59 · 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: gnomad