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rs3732379

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T)
(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position39265765
GeneCX3CR1
is asnp
is mentioned by
dbSNPrs3732379
ebirs3732379
HLIrs3732379
Exacrs3732379
Varsomers3732379
Maprs3732379
PheGenIrs3732379
hapmaprs3732379
1000 genomesrs3732379
hgdprs3732379
ensemblrs3732379
gopubmedrs3732379
geneviewrs3732379
scholarrs3732379
googlers3732379
pharmgkbrs3732379
gwascentralrs3732379
openSNPrs3732379
23andMers3732379
23andMe allrs3732379
SNP Nexus

SNPshotrs3732379
SNPdbers3732379
MSV3drs3732379
GWAS Ctlgrs3732379
GMAF0.174
Max Magnitude0
? (C;C) (C;T) (T;T) 28

see also rs3732378

OMIM601470
DescHUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS
Variant0001
Relatedalso


ClinVar
Risk rs3732379(T;T)
Alt rs3732379(T;T)
Reference rs3732379(C;C)
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.39307256C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008629.4, RCV000008630.4, RCV000022393.1, RCV000023109.4,



[PMID 17327408OA-icon.png] Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.


[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 18633131OA-icon.png] Host immune gene polymorphisms in combination with clinical and demographic factors predict late survival in diffuse large B-cell lymphoma patients in the pre-rituximab era.


[PMID 19066394OA-icon.png] Organochlorine exposure, immune gene variation, and risk of non-Hodgkin lymphoma.


[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-V281I
aa_change Val281Ile
aa_change_short V281I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



[PMID 24287500OA-icon.png] Prospective Study of Common Variants in CX3CR1 and Risk of Macular Degeneration: Pooled Analysis From 5 Long-term Studies


[PMID 25898802] Association between the CX3CR1 gene V249I polymorphism and delayed kidney allograft function


[PMID 27176135] CX3CR1 polymorphisms associated with an increased risk of developmental dysplasia of the hip in human.