rs3732378
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | more rapid progression to full-blown AIDS and probably increased susceptibility to HIV infection |
| (A;G) | 1 | possible reduced risk of acute coronary events |
| (G;G) | 0 | common on affy axiom data |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 39265671 |
| Gene | CX3CR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3732378 |
| dbSNP (classic) | rs3732378 |
| ClinGen | rs3732378 |
| ebi | rs3732378 |
| HLI | rs3732378 |
| Exac | rs3732378 |
| Gnomad | rs3732378 |
| Varsome | rs3732378 |
| LitVar | rs3732378 |
| Map | rs3732378 |
| PheGenI | rs3732378 |
| Biobank | rs3732378 |
| 1000 genomes | rs3732378 |
| hgdp | rs3732378 |
| ensembl | rs3732378 |
| geneview | rs3732378 |
| scholar | rs3732378 |
| rs3732378 | |
| pharmgkb | rs3732378 |
| gwascentral | rs3732378 |
| openSNP | rs3732378 |
| 23andMe | rs3732378 |
| SNPshot | rs3732378 |
| SNPdbe | rs3732378 |
| MSV3d | rs3732378 |
| GWAS Ctlg | rs3732378 |
| GMAF | 0.09688 |
| Max Magnitude | 2 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs3732378, also known as c.935C>T, p.Thr280M or T280M, represents a variant in the CX3CR1 gene on chromosome 3. This variant is typically co-inherited as a haplotype with neighbouring SNP, rs3732379 (Val249Ile).
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
] - reduced anti-fungal immune response in Crohn's disease patients, at least for minor allele homozygotes [PMID 29326275]
[PMID 19372452] Fractalkine receptor/ligand genetic variants and carotid intima-media thickness
[PMID 21525510
] Fractalkine is a novel human adipochemokine associated with type 2 diabetes
| ClinVar | |
|---|---|
| Risk | Rs3732378(A;A) |
| Alt | Rs3732378(A;A) |
| Reference | Rs3732378(G;G) |
| Significance | Other |
| Disease | Human immunodeficiency virus type 1 Coronary artery disease Age-related macular degeneration 12 MACULAR DEGENERATION |
| Variation | info |
| Gene | CX3CR1 |
| 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 |
| Reversed | 0 |
| HGVS | NC_000003.11:g.39307162G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000008629.4, RCV000008630.4, RCV000022393.1, RCV000023109.4, |
[PMID 17672867] Polymorphisms in chemokine receptor genes and susceptibility to Kawasaki disease.
[PMID 17705862] Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.
[PMID 20041166] Common genetic variation and the control of HIV-1 in humans.
[PMID 20506646] [CX3CR1 polymorphism in patients with dilated cardiomyopathy].
[PMID 21609242] Age-related macular degeneration-susceptibility single nucleotide polymorphisms in a han chinese control population.
[PMID 23716478] 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 24287500] Prospective Study of Common Variants in CX3CR1 and Risk of Macular Degeneration: Pooled Analysis From 5 Long-term Studies
[PMID 24998320] Linkage Mapping and Whole Exome Sequencing Identify a Shared Variant in CX3CR1 in a Large Multi-Generation Family
[PMID 27176135] CX3CR1 polymorphisms associated with an increased risk of developmental dysplasia of the hip in human.
[PMID 33569111] The Association Between BMP-2, UQCC1 and CX3CR1 Polymorphisms and the Risk of Developmental Dysplasia of the Hip.
