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rs1799864

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Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A)
(A;G)
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome3
Position46357717
GeneCCR2
is asnp
is mentioned by
dbSNPrs1799864
ebirs1799864
HLIrs1799864
Exacrs1799864
Varsomers1799864
Maprs1799864
PheGenIrs1799864
hapmaprs1799864
1000 genomesrs1799864
hgdprs1799864
ensemblrs1799864
gopubmedrs1799864
geneviewrs1799864
scholarrs1799864
googlers1799864
pharmgkbrs1799864
gwascentralrs1799864
openSNPrs1799864
23andMers1799864
23andMe allrs1799864
SNP Nexus

SNPshotrs1799864
SNPdbers1799864
MSV3drs1799864
GWAS Ctlgrs1799864
GMAF0.169
Max Magnitude0
Compared with individuals without CCR5-Delta32 (a variation in another gene) or rs1799864(A), individuals with one or two copies of rs1799864(A) had a 58% lower risk of developing AIDS during the first 4 years after testing positive for HIV, a 19% lower risk during the subsequent 4 years, and no significant protection thereafter. [PMID 12556692] No protective effect (ie no benefit) was seen for this SNP once AIDS had developed. [PMID 11694103]

[PMID 19263529OA-icon.png] rs1799864(G), rs3025058(A) and rs662 were associated with increased risk, and rs1800775(A) with reduced risk of recurrent venous thromboembolism

OMIM601267
DescHUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO
Variant0001
Relatedalso
[PMID 19506371OA-icon.png] Single Nucleotide Polymorphisms in Monocyte Chemoattractant Protein-1 and Its Receptor Act Synergistically to Increase the Risk of Carotid Atherosclerosis


[PMID 19559392OA-icon.png] A candidate gene association study of 77 polymorphisms in migraine


[PMID 20153665] Genetic variation at the CCR5/CCR2 gene cluster and risk of psoriasis and psoriatic arthritis

? (A;A) (A;G) (G;G)


[PMID 22733495] Association of inflammatory chemokine gene CCL2I/D with bladder cancer risk in North Indian population


ClinVar
Risk rs1799864(A;A)
Alt rs1799864(A;A)
Reference rs1799864(G;G)
Significance Other
Disease Human immunodeficiency virus type 1
Variation info
Gene CCR2
CLNDBN Human immunodeficiency virus type 1, susceptibility to
Reversed 0
HGVS NC_000003.11:g.46399208G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008756.2,



[PMID 15726497OA-icon.png] Gene-environment interaction effects on the development of immune responses in the 1st year of life.


[PMID 17079285OA-icon.png] Genetic protection against hepatitis B virus conferred by CCR5Delta32: Evidence that CCR5 contributes to viral persistence.


[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 18172114OA-icon.png] Comprehensive analysis of the candidate genes CCL2, CCR2, and TLR4 in age-related macular degeneration.


[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 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.


[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


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


[PMID 19073967OA-icon.png] Shared and distinct genetic variants in type 1 diabetes and celiac disease.


[PMID 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.


[PMID 19330901OA-icon.png] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.


[PMID 20031567OA-icon.png] An evaluation of candidate genes of inflammation and thrombosis in relation to the risk of venous thromboembolism: The Women's Genome Health Study.


[PMID 20041166OA-icon.png] Common genetic variation and the control of HIV-1 in humans.


[PMID 20552027OA-icon.png] Host and viral genetic correlates of clinical definitions of HIV-1 disease progression.


[PMID 21091093OA-icon.png] Polymorphisms in chemokine and receptor genes and gastric cancer risk and survival in a high risk Polish population.


GET Evidence
CCR2-V64I
aa_change Val64Ile
aa_change_short V64I
impact protective
qualified_impact Insufficiently evaluated protective
overall_frequency 0.114322
summary Associated with slower HIV disease progression.



[PMID 23427179] Relationships of Single Nucleotide Polymorphisms of Monocyte Chemoattractant Protein 1 and Chemokine Receptor 2 With Susceptibility and Clinicopathologic Characteristics of Neoplasia of Uterine Cervix in Taiwan Women


[PMID 23632061] CCR2 and CCR5 genes polymorphisms in benign prostatic hyperplasia and prostate cancer


[PMID 24083412] Functional Genetic Polymorphisms of Monocyte Chemoattractant Protein 1 and C-C Chemokine Receptor Type 2 in Ischemic Stroke


[PMID 25760842] [Association of CCR2 gene rs1799864 polymorphism with hemophagocytic lymphohistiocytosis in children]