{{Rsnum
|rsid=3732378
|Gene=CX3CR1
|Chromosome=3
|position=39265671
|Orientation=plus
|GMAF=0.09688
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CX3CR1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 2.7 | 29.2 | 68.1
| HCB | 0.0 | 2.2 | 97.8
| JPT | 0.0 | 8.8 | 91.2
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 7.0 | 93.0
| CHB | 0.0 | 2.2 | 97.8
| CHD | 0.0 | 2.8 | 97.2
| GIH | 2.0 | 20.8 | 77.2
| LWK | 0.0 | 0.0 | 0.0
| MEX | 1.7 | 27.6 | 70.7
| MKK | 0.0 | 0.6 | 99.4
| TSI | 2.9 | 24.5 | 72.5
| HapMapRevision=28
}}

[[rs3732378]] VAL249ILE is tightly linked to neighboring [[rs3732379]] THR280MET

The protein receptor with both variant amino acids is known as CX3CR1-M280.

the minor alleles of this pair are associated with
*more rapid progression to full-blown AIDS and probably increased susceptibility to HIV infection {{PMID|10731151}}
*reduced risk of acute coronary events {{PMID|11264153}}
*increased risk of [[age related macular degeneration]] {{PMID|17909628|OA=1
}}

{{PMID Auto
|PMID=19372452
|Title=Fractalkine receptor/ligand genetic variants and carotid intima-media thickness
}}

{{omim
|id=601470
|rsnum=3732378
|variant=0001
}}

{{PMID Auto
|PMID=21525510
|Title=Fractalkine is a novel human adipochemokine associated with type 2 diabetes
|OA=1
}}

{{ClinVar
|rsid=3732378
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=39307162
|CHROM=3
|GMAF=0.0966
|dbSNPBuildID=107
|SSR=0
|SAO=0
|VP=0x05036800000015051f110100
|GENEINFO=CX3CR1:1524
|GENE_NAME=CX3CR1
|GENE_ID=1524
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.39307162G>A
|CLNSIG=255
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9031; 0.09688
|CLNACC=RCV000008629.1; RCV000008630.1; RCV000022393.1; RCV000023109.1
|CLNDBN=Human immunodeficiency virus type 1, rapid progression to AIDS; Coronary artery disease, resistance to; Age-related macular degeneration 12; MACULAR DEGENERATION, AGE-RELATED, 12, SUSCEPTIBILITY TO
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C3151079:613784
|CLNSRC=NCBI override; OMIM Allelic Variant
|CLNSRCID=601470.0001
|COMMON=1
|Disease=Human immunodeficiency virus type 1; Coronary artery disease; Age-related macular degeneration 12; MACULAR DEGENERATION
}}

{{PMID Auto
|PMID=17672867
|Title=Polymorphisms in chemokine receptor genes and susceptibility to Kawasaki disease.
|OA=1
}}

{{PMID Auto
|PMID=17705862
|Title=Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.
|OA=1
}}

{{PMID Auto
|PMID=20041166
|Title=Common genetic variation and the control of HIV-1 in humans.
|OA=1
}}

{{PMID Auto
|PMID=20506646
|Title=[CX3CR1 polymorphism in patients with dilated cardiomyopathy].
}}

{{PMID Auto
|PMID=21609242
|Title=Age-related macular degeneration-susceptibility single nucleotide polymorphisms in a han chinese control population.
}}

{{GET Evidence
|gene=CX3CR1
|aa_change=Thr312Met
|aa_change_short=T312M
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3732378
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|nblosum100=2
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=23716478
|Title=Developmental dysplasia of the hip: Linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multi-generation family
}}

{{PMID Auto
|PMID=24287500
|Title=Prospective Study of Common Variants in CX3CR1 and Risk of Macular Degeneration: Pooled Analysis From 5 Long-term Studies
}}

{{PMID Auto
|PMID=24998320
|Title=Linkage Mapping and Whole Exome Sequencing Identify a Shared Variant in CX3CR1 in a Large Multi-Generation Family
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}