TABLE 1.
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 |