PharmCAT

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The Pharmacogenomic Clinical Annotation Tool

View the Project on GitHub PharmGKB/PharmCAT

Gene Definition Exceptions

The genotype determination is based on CPIC gene definition tables, with the following modifications:

  1. SLCO1B1
    1. CPIC provides recommendations based on the rs4149056 genotype or the SLCO1B1 star allele genotype as reporting options in Table 1 of the SLCO1B1/simvastatin guideline [PMID: 24918167]. While PharmCAT attempts to determine the star allele genotype for SLCO1B1, in case no call can be determined it provides the CPIC recommendation based on the rs4149056 variant genotype.