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rs9264942

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2.2 90% reduction in HIV viral load
(C;T) 2.1 60% reduction in HIV viral load
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome6
Position31306603
GeneRPL3P2
is asnp
is mentioned by
dbSNPrs9264942
ebirs9264942
Exacrs9264942
Maprs9264942
PheGenIrs9264942
hapmaprs9264942
1000 genomesrs9264942
hgdprs9264942
ensemblrs9264942
gopubmedrs9264942
geneviewrs9264942
scholarrs9264942
googlers9264942
pharmgkbrs9264942
gwascentralrs9264942
openSNPrs9264942
23andMers9264942
23andMe allrs9264942
SNP Nexus

SNPshotrs9264942
SNPdbers9264942
MSV3drs9264942
GWAS Ctlgrs9264942
GMAF0.3485
Max Magnitude2.2
? (C;C) (C;T) (T;T) 28
This SNP (C/T) is in 5' region of the HLA-C gene, 35 kb away from transcription initiation in or around the HLA-C gene.

"People with this tiny sequence variation, dubbed rs9264942, appear to have up to 90% less virus in their systems than those who carry other polymorphisms. About 10% of Europeans appear to carry two copies of rs9264942, which leads to an average 90% viral load reduction. About 50% of Europeans carry one copy, which gives a 60% reduction. By comparison, less than 40% of people of African descent appear to carry a single copy of the polymorphism." Genetic variation may lower HIV load by 90%

They are referring to the (C;C) genotype giving a 90% reduction and the (C;T) giving a 60% reduction. dbSNP page

This SNP is also reported [PMID 17641165OA-icon.png] to account for 6.5% of the 15% variation in viral load set point in asymptomatic HIV infected individuals. rs2395029 can also be associated with reduced HIV viral load set point.

Neighborrs10484554
Distance175


GWAS snp
PMID [PMID 20041166OA-icon.png]
Trait HIV-1 control
Title Common Genetic Variation and the Control of HIV-1 in Human
Risk Allele
P-val 6E-12
Odds Ratio NR NR



[PMID 21067287] Multiple sclerosis risk markers in HLA-DRA, HLA-C, and IFNG genes are associated with sex-specific childhood leukemia risk

GWAS snp
PMID [PMID 21051598OA-icon.png]
Trait
Title The Major Genetic Determinants of HIV-1 Control Affect HLA Class I Peptide Presentation
Risk Allele C
P-val 3E-35
Odds Ratio 2.9000 [NR]


[PMID 18256235OA-icon.png] WGAViewer: software for genomic annotation of whole genome association studies.


[PMID 18982067OA-icon.png] HIV-1 disease-influencing effects associated with ZNRD1, HCP5 and HLA-C alleles are attributable mainly to either HLA-A10 or HLA-B*57 alleles.


[PMID 19050382] Association of HLA-C and HCP5 gene regions with the clinical course of HIV-1 infection.


[PMID 19107206OA-icon.png] Distinct genetic loci control plasma HIV-RNA and cellular HIV-DNA levels in HIV-1 infection: the ANRS Genome Wide Association 01 study.


[PMID 19276793OA-icon.png] Host genetics and HIV-1 viral load set-point in African-Americans.


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


[PMID 21221856OA-icon.png] The search for host genetic factors of HIV/AIDS pathogenesis in the post-genome era: progress to date and new avenues for discovery.


[PMID 21499264OA-icon.png] Differential microRNA regulation of HLA-C expression and its association with HIV control.


[PMID 21860345] Rising HIV-1 viral load set point at a population level coincides with a fading impact of host genetic factors on HIV-1 control.


[PMID 22474614OA-icon.png] Host Genes Important to HIV Replication and Evolution.


GET Evidence
rs9264942
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.306452
summary



GWAS snp
PMID [PMID 23128233OA-icon.png]
Trait Crohn's disease
Title Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Risk Allele C
P-val 5E-28
Odds Ratio 1.15 [1.107-1.184]


[PMID 22772778] Quantity of HLA-C surface expression and licensing of KIR2DL+ natural killer cells.


[PMID 23543094OA-icon.png] Testing for associations between loci and environmental gradients using latent factor mixed models.


[PMID 24842830] Regulatory variation in HIV-1 dependency factor ZNRD1 associates with host resistance to HIV-1 acquisition


[PMID 25083782OA-icon.png] HLA-C -35kb Expression SNP Is Associated with Differential Control of β-HPV Infection in Squamous Cell Carcinoma Cases and Controls


ClinVar
Risk rs9264942(C;C)
Alt rs9264942(C;C)
Reference rs9264942(T;T)
Significance Other
Disease HIV-1 viremia
Variation info
Gene LOC105379660 LOC105379667 LOC105375015
CLNDBN HIV-1 viremia, susceptibility to
Reversed 0
HGVS NC_000006.12:g.31306603T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016036.2,