Variant:

rs16947 at chr22:42523943 in CYP2D6 (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.

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

VIP Variant in CYP2D6

CYP2D6 2850C>T (also called 2938C>T in the literature) is a common SNP in CYP2D6, and is found in the CYP2D6*2 haplotype among others. CYP2A6*2 activity is slightly reduced [Article:9012401], but is considered to be in the same extensive metabolizer (EM) category as CYP2D6*1 [Article:11972444]. The presence of CYP2D6 2850C>T and the absence of several others is diagnostic of the CYP2D6*2 haplotype according to Gaedigk et al. [Article:10634130]. Many Africans or African Americans were misdiagnosed as CYP2D6*2 by this allele, before the discovery of other reduced function haplotypes that share this SNP in common with CYP2D6*2 such as CYP2D6*17 and CYP2D6*29 [Article:11972444].

One study found an association between CYP2D6 2850C>T and generalized tonic clonic seizures (GTCS) among Indians [Article:16835697].

Note: The CYP2D6 gene is found on the minus chromosomal strand. Please note that for standardization, the PharmGKB presents all allele base pairs on the positive chromosomal strand, therefore the alleles within our variant annotations will differ (in a complementary manner) from those in this VIP summary that are given on the minus strand as reported in the literature.

Publications related to rs16947 at chr22:42523943: 5

VA	Efficacy of tamoxifen based on cytochrome P450 2D6, CYP2C19 and SULT1A1 genotype in the Italian Tamoxifen Prevention Trial. The pharmacogenomics journal. 2010. Serrano D, et al. [Article:20309015@PubMed]
VIP	Association of CYP2D6 100 C > T and 2850 C > T polymorphisms with generalized tonic clonic seizures among Indians. Journal of neural transmission (Vienna, Austria : 1996). 2006. Soundararajan C C, et al. [Article:16835697@PubMed]
VIP	The value of radioisotopes in pulmonary medicine. Arizona medicine. 1977. Kanarek D J. [Article:901240@PubMed]
VIP	Cancer-associated isoenzyme of serum galactosyltransferase. Proceedings of the National Academy of Sciences of the United States of America. 1976. Weiser M M, et al. [Article:1063413@PubMed]
VIP	Clinical evaluation of patients dialysed with double Gambro 4 hours, three times per week. Proceedings of the European Dialysis and Transplant Association. European Dialysis and Transplant Association. 1975. Mirahmadi K S, et al. [Article:1197244@PubMed]

Cross-References

Platform Availability

• Illumina

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