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rs241448

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 2.1 2.14x increased risk for Alzheimer's
(C;T) 2 1.51x increased risk for Alzheimer's
(T;T) 0 common
ReferenceGRCh38 38.1/141
Chromosome6
Position32828908
GeneTAP2
is asnp
is mentioned by
dbSNPrs241448
ebirs241448
HLIrs241448
Exacrs241448
Varsomers241448
Maprs241448
PheGenIrs241448
hapmaprs241448
1000 genomesrs241448
hgdprs241448
ensemblrs241448
gopubmedrs241448
geneviewrs241448
scholarrs241448
googlers241448
pharmgkbrs241448
gwascentralrs241448
openSNPrs241448
23andMers241448
23andMe allrs241448
SNP Nexus

SNPshotrs241448
SNPdbers241448
MSV3drs241448
GWAS Ctlgrs241448
Merged fromRs111033562
GMAF0.2934
Max Magnitude2.1
? (C;C) (C;T) (T;T) 28

While the ApoE4 allele (rs429358(C)) is widely accepted as the predominant genetic risk factor for Alzheimer's disease, there are likely to be numerous other factors, both genetic and environmental, associated to lesser degrees with susceptibility to the disease. Genes influencing the immune system, and in particular susceptibility to viral infections such as herpes, may be among such factors. [PMID 16406033]

This SNP, located in the TAP2 gene and thus implicated in the activation of HIV and HSV-1 viruses, is seen more commonly in ~300 Alzheimer patients than in the same number of controls. The risk allele is rs241448(C). The odds ratio is reported to be 2.14 (CI: 1.02-2.55) for rsrs241448(C;C) homozygotes, and 1.51 (CI: 0.80-1.93) for rsrs241448(C;T) heterozygotes, compared with rsrs241448(T;T) homozygotes. This may be particularly significant for carriers of ApoE4 alleles. [PMID 17420072]

Neighborrs241447
Distance66


ClinVar
Risk rs241448(C;C)
Alt rs241448(C;C)
Reference rs241448(T;T)
Significance Non-pathogenic
Disease PEPTIDE TRANSPORTER PSF2 POLYMORPHISM
Variation info
Gene TAP2
CLNDBN PEPTIDE TRANSPORTER PSF2 POLYMORPHISM
Reversed 1
HGVS NC_000006.11:g.32796685A\x3d
CLNSRC OMIM Allelic Variant
CLNACC RCV000014729.2,



[PMID 16595160] A TAP2 genotype associated with Alzheimer's disease in APOE4 carriers.


[PMID 19680542OA-icon.png] Tissue effect on genetic control of transcript isoform variation.