CYP2C9*2 |
Nonsynonymous SNP (Arg144Gly) leading to decreased enzyme activity |
Present in approximately 25% of Europeans and 5% of African Americans. Usually absent in Asians. |
CYP2C9*3 |
Nonsynonymous SNP (Ile359Leu) leading to decreased enzyme activity |
Present in approximately 12% of Europeans, 8% of Asians, and 2% of African Americans |
CYP2C9*5 |
Nonsynonymous SNP (Asp360Glu) leading to decreased enzyme activity |
Present in 1–2% of African Americans. Usually absent in Europeans and Asians. |
CYP2C9*6 |
Frameshift mutation leading to decreased enzyme activity |
Present in about 1% of African Americans. Usually absent in Europeans and Asians. |
CYP2C9*8 |
Nonsynonymous SNP (Arg150His) leading to decreased enzyme activity |
Present in about 12% of African Americans. Usually absent in Europeans and Asians. |
CYP2C9*11 |
Nonsynonymous SNP (Arg335Trp) leading to decreased enzyme activity |
Present in about 3% of African Americans and <1% of Europeans and Asians. |
VKORC1 -1639G>A |
SNP in the gene regulatory region affecting gene expression |
Approximately 48% of Europeans, 16% of Asians, and 20% of African Americans have the AG genotype. Approximately 15% of Europeans, 83% of Asians, and 2% of African Americans have the AA genotype. |
CYP2C19*2 |
Splicing defect leading to loss of activity |
Approximately 25–30% of Europeans and African Americans and 50% of Asians have the *2 allele. |
SLCO1B1 521T>C |
Nonsynonymous SNP |
Approximately 10 to 35% of individuals carry a single 521C allele, and up to 6% have the CC genotype. |