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rs28365083

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2.5 CYP3A5*2 homozygote; nonexpressor for CYP3A5
(A;C) 2 carrier of one CYP3A5*2 allele
(C;C) 0 normal
ReferenceGRCh38 38.1/141
Chromosome7
Position99652613
GeneCYP3A5, ZSCAN25
is asnp
is mentioned by
dbSNPrs28365083
dbSNP (classic)rs28365083
ClinGenrs28365083
ebirs28365083
HLIrs28365083
Exacrs28365083
Gnomadrs28365083
Varsomers28365083
LitVarrs28365083
Maprs28365083
PheGenIrs28365083
Biobankrs28365083
1000 genomesrs28365083
hgdprs28365083
ensemblrs28365083
geneviewrs28365083
scholarrs28365083
googlers28365083
pharmgkbrs28365083
gwascentralrs28365083
openSNPrs28365083
23andMers28365083
SNPshotrs28365083
SNPdbers28365083
MSV3drs28365083
GWAS Ctlgrs28365083
GMAF0.001377
Max Magnitude2.5
? (A;A) (A;C) (C;C) 28


rs28365083, also known as 27289C>A, is a SNP in the CYP3A5 gene.

The rs28365083(A) allele defines the CYP3A5*2 variant, which is nonfunctional.

[PMID 17615053OA-icon.png] Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk.

[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.

[PMID 19076156OA-icon.png] Polymorphisms of drug-metabolizing enzymes (GST, CYP2B6 and CYP3A) affect the pharmacokinetics of thiotepa and tepa.

[PMID 20389299OA-icon.png] Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.