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. Author manuscript; available in PMC: 2023 May 1.
Published in final edited form as: Clin Pharmacol Ther. 2022 Mar 11;111(5):1007–1021. doi: 10.1002/cpt.2557

TABLE 1.

ASSIGNMENT OF PREDICTED SLCO1B1, ABCG2, AND CYP2C9 LIKELY PHENOTYPE BASED ON GENOTYPE

Gene Phenotypea,b Activity score (if applicable) Genotype Examples of diplotypes
SLCO1B1 Increased function n/a An individual carrying two increased function alleles *14/*14
Normal function n/a An individual carrying two normal function alleles or one normal plus one increased function allele *1/*1, *1/*14
Decreased function n/a An individual carrying one normal or increased function allele plus one no function allele *1/*5, *1/*15,
Possible Decreased
Function
An individual carrying one no function allele plus one uncertain/unknown function allele *5/*6, *15/*10, *5/*43
Poor function n/a An individual carrying two no function alleles *5/*5, *5/*15, *15/*15
Indeterminate n/a An individual carrying one normal function allele plus one uncertain or unknown function allele OR allele combinations with uncertain and/or unknown function alleles *1/*7, *1/*10, *7/*10
ABCG2 Normal function n/a An individual carrying two normal function alleles c.421 C/C (rs2231142)
Decreased function n/a An individual carrying one normal function allele plus one decreased function allele c.421 C/A (rs2231142)
Poor function n/a An individual carrying two decreased function alleles c.421 A/A (rs2231142)
CYP2C9 Normal Metabolizer 2 An individual carrying two normal function alleles *1/*1
Intermediate
Metabolizer
1.5


1
An individual carrying one normal function allele plus one decreased function allele OR one normal function allele plus one no function allele OR two decreased function alleles *1/*2

*1/*3, *2/*2
Poor Metabolizer 0.5


0
An individual carrying one no function allele plus one decreased function allele OR two no function alleles *2/*3

*3/*3
Indeterminate n/a An individual carrying allele combinations with uncertain and/or unknown function alleles *1/*7, *1/*10, *7/*10
a

Allele and phenotype frequencies vary by ancestral group (see Frequency Table (6, 7)).

b

Assignment of allele function and associated citations can be found in the Allele Functionality Tables (6, 7). For a complete list of diplotypes and resulting phenotypes, see the Diplotype to Phenotype Table (6, 7).