Variant:

rs4986893 at chr10:96540410 in CYP2C19 (VIP)

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 5 annotations for this variant. Register or sign in to see them.

There are 2 disease-related annotations for this variant. Register or sign in to see them.

VIP Variant in CYP2C19

rs4986893 (c.636G>A) is the defining polymorphism of the CYP2C19*3 allele (previously referred to as CYP2C19m2) and is a G>A transition in exon 4 that results in a premature termination codon at amino acid 212 (p.W212X) [Article:7969038]. The CYP2C19*3 allele frequencies in most populations is below 1%; however, it is more prevalent among Asians (2-9%) [Article:21716271] For more information see also CYP2C19*3 haplotype page.

Publications related to rs4986893 at chr10:96540410: 5

VA	Differential Impacts of CYP2C19 Gene Polymorphisms on the Antiplatelet Effects of Clopidogrel and Ticlopidine. Clinical pharmacology and therapeutics. 2011. Maeda A, et al. [Article:21178986@PubMed]
VA	Genetic variants in ABCB1 and CYP2C19 and cardiovascular outcomes after treatment with clopidogrel and prasugrel in the TRITON-TIMI 38 trial: a pharmacogenetic analysis. Lancet. 2010. Mega Jessica L, et al. [Article:20801494@PubMed]
VA	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]
VIP	Genetic analysis of the S-mephenytoin polymorphism in a Chinese population. Clinical pharmacology and therapeutics. 1995. de Morais S M, et al. [Article:7586932@PubMed]
VIP	Identification of a new genetic defect responsible for the polymorphism of (S)-mephenytoin metabolism in Japanese. Molecular pharmacology. 1994. De Morais S M, et al. [Article:7969038@PubMed]

Cross-References

Platform Availability

• Illumina

Common Searches

• Search Google
• Search Google Scholar