From SNPedia
| Geno
|
Mag
|
Summary
|
| (A;A)
|
|
Homozygous for CYP2D6 variants (non-CYP2D6*1)
|
| (A;G)
|
0.1
|
a common variant
|
| (G;G)
|
0
|
normal
|
The wild type (normal) allele at this SNP is (G). The (A) variant indicates the presence of a non-wild type CYP2D6 variant, but it appears in many different variants so it can not be used to determine the presence of any particular variant.
Inheriting a normal number of copies of this allele results in CYP2D6 function that is indistinguishable from wild-type (normal) activity. However, this variant has been seen present in higher copy numbers, and in these cases, can result in the ultrafast metabolizer phenotype [PMID 7903454].
| PharmGKB | PA165349809 |
| Name | CYP2D6:2850C>T, part of CYP2D6*2A an extensive metabolizer haplotype. |
| Annotation | Risk or phenotype-associated allele: T. Phenotype: The CYP2D6*2A haplotype was associated with lower incidence of breast cancer on tamoxifen compared to placebo in a prevention study. The CYP2D6*2A allele may be associated with increased efficacy of tamoxifen. Study size: 182. Study population/ethnicity: Women in the Italian Tamoxifen Prevention trial, Caucasian, Italy. Significance metric(s): p = 0.0001. Type of association: CO. |
| Gene | CYP2D6 |
| Featue | Exon/NonSyn |
| Evidence | PubMed ID:20309015 |
| Drugs | tamoxifen |
| Diseases | Breast Neoplasms |
| Curation Level | Curated |
