Variant:

rs12248560 at chr10:96521657 in CYP2C19 (VIP)

Clinical Annotations

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Variant Annotations

PharmGKB variant annotations provide information about variant-drug pairs based on individual PubMed publications. Each annotation represents information from a single paper and the goal is to report the information that the author states, not an interpretation of the paper. The PMID for supporting PubMed publications is found in the "Evidence" field.

Information presented, including study size, allele frequencies and statistics is taken directly from the publication. However, if the author does not correct p-values in cases of multiple hypotheses, curators may apply a Bonferroni correction. Curators attempt to report study size based on the actual number of participants used for the calculation of the association statistics, so the number may vary slightly from what is reported in the abstract of the paper. OMB Race Category information is derived from the paper and mapped to standardized categories. Category definitions may be found by clicking on the "OMB Race Category" link.

There are 20 annotations for this variant. Register or sign in to see them.

There are 1 disease-related annotations for this variant. Register or sign in to see them.

VIP Variant in CYP2C19

rs12248560 (c.-806C>T) is the defining polymorphism of the CYP2C19*17 allele and is a C>T transition in the promoter that creates a consensus binding site for the GATA transcription factor family, resulting in increased CYP2C19 expression and activity [Articles:16413245, 17625515, 20083681]. The CYP2C19*17 allele frequencies are approximately 21% in Caucasians, 16% in African-Americans, and 3% in Asians [Article:21716271]. See also CYP2C19*17 haplotype page.

Publications related to rs12248560 at chr10:96521657: 13

CA VA	The influence of CYP2C19*2 and *17 on on-treatment platelet reactivity and bleeding events in patients undergoing elective coronary stenting. Pharmacogenetics and genomics. 2012. Harmsze Ankie M, et al. [Article:22228204@PubMed]
CA VA	The relation between CYP2C19 genotype and phenotype in stented patients on maintenance dual antiplatelet therapy. American heart journal. 2011. Gurbel Paul A, et al. [Article:21392617@PubMed]
VIP	Clinical Pharmacogenetics Implementation Consortium Guidelines for Cytochrome P450-2C19 (CYP2C19) Genotype and Clopidogrel Therapy. Clinical pharmacology and therapeutics. 2011. Scott S A, et al. [Article:21716271@PubMed]
CA VA	Protective effect of the CYP2C19 *17 polymorphism with increased activation of clopidogrel on cardiovascular events. American heart journal. 2010. Tiroch Klaus A, et al. [Article:20826260@PubMed]
CA VA VIP	Cytochrome 2C19*17 allelic variant, platelet aggregation, bleeding events, and stent thrombosis in clopidogrel-treated patients with coronary stent placement. Circulation. 2010. Sibbing Dirk, et al. [Article:20083681@PubMed]
CA VA	Impact of the CYP2C19*17 Allele on the Pharmacokinetics of Omeprazole and Pantoprazole in Children: Evidence for a Differential Effect. Drug metabolism and disposition: the biological fate of chemicals. 2010. Kearns Gregory L, et al. [Article:20223877@PubMed]
CA VA	Effect of CYP2C19 and ABCB1 single nucleotide polymorphisms on outcomes of treatment with ticagrelor versus clopidogrel for acute coronary syndromes: a genetic substudy of the PLATO trial. Lancet. 2010. Wallentin Lars, et al. [Article:20801498@PubMed]
CA VA	Effects of CYP2C19 genotype on outcomes of clopidogrel treatment. The New England journal of medicine. 2010. Paré Guillaume, et al. [Article:20979470@PubMed]
VA	The CYP2C19*17 genotype is associated with lower imipramine plasma concentrations in a large group of depressed patients. The pharmacogenomics journal. 2010. Schenk P W, et al. [Article:19884907@PubMed]
CA VA	Increased omeprazole metabolism in carriers of the CYP2C19*17 allele; a pharmacokinetic study in healthy volunteers. British journal of clinical pharmacology. 2008. Baldwin R Michael, et al. [Article:18294333@PubMed]
CA VA VIP	Impact of the ultrarapid CYP2C19*17 allele on serum concentration of escitalopram in psychiatric patients. Clinical pharmacology and therapeutics. 2008. Rudberg I, et al. [Article:17625515@PubMed]
VA	Breast cancer treatment outcome with adjuvant tamoxifen relative to patient CYP2D6 and CYP2C19 genotypes. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2007. Schroth Werner, et al. [Article:18024866@PubMed]
CA VA VIP	A common novel CYP2C19 gene variant causes ultrarapid drug metabolism relevant for the drug response to proton pump inhibitors and antidepressants. Clinical pharmacology and therapeutics. 2006. Sim Sarah C, et al. [Article:16413245@PubMed]

Cross-References

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