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rs3732378

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome3
Position39265671
GeneCX3CR1
is asnp
is mentioned by
dbSNPrs3732378
ebirs3732378
HLIrs3732378
Exacrs3732378
Varsomers3732378
Maprs3732378
PheGenIrs3732378
hapmaprs3732378
1000 genomesrs3732378
hgdprs3732378
ensemblrs3732378
gopubmedrs3732378
geneviewrs3732378
scholarrs3732378
googlers3732378
pharmgkbrs3732378
gwascentralrs3732378
openSNPrs3732378
23andMers3732378
23andMe allrs3732378
SNP Nexus

SNPshotrs3732378
SNPdbers3732378
MSV3drs3732378
GWAS Ctlgrs3732378
GMAF0.09688
Max Magnitude2
? (A;A) (A;G) (G;G) 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


[PMID 19372452] Fractalkine receptor/ligand genetic variants and carotid intima-media thickness

OMIM601470
Desc
Variant0001
Relatedalso
[PMID 21525510OA-icon.png] 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 17672867OA-icon.png] Polymorphisms in chemokine receptor genes and susceptibility to Kawasaki disease.


[PMID 17705862OA-icon.png] Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.


[PMID 20041166OA-icon.png] 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.


GET Evidence
CX3CR1-T312M
aa_change Thr312Met
aa_change_short T312M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



[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 24287500OA-icon.png] 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.