Table 3.
CYP2C18 | CYP2C19 | CYP2C9 | CYP2C8 | Any CYP2C gene | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Cohort | Carriers/ Cohort |
Allele Frequency (%) |
Carrier Frequency (%) |
Carriers/ Cohort |
Allele Frequency (%) |
Carrier Frequency (%) |
Carriers/ Cohort |
Allele Frequency (%) |
Carrier Frequency (%) |
Carriers/ Cohort |
Allele Frequency (%) |
Carrier Frequency (%) |
Carriers/ Cohort |
Allele Frequency (%) |
Carrier Frequency (%) |
Deletion | |||||||||||||||
ISMMS/Sema4 | 7/11096 | 0.032 | 0.063 | 7/11096 | 0.032 | 0.063 | 0/11096 | - | - | 0/11096 | - | - | 7/11096 | 0.032 | 0.063 |
CMH | 0/9760 | - | - | 3/9760 | 0.015 | 0.031 | 0/9760 | - | - | 0/9760 | - | - | 3/9760 | 0.015 | 0.031 |
DGV | 38/41392 | 0.046 | 0.092 | 31/41392 | 0.037 | 0.075 | 4/41392 | 0.005 | 0.010 | 3/41392 | 0.004 | 0.007 | 50/41392 | 0.060 | 0.121 |
ClinGen | 7/37447 | 0.009 | 0.019 | 5/37447 | 0.007 | 0.013 | 1/37447 | 0.001 | 0.003 | 1/37447 | 0.001 | 0.003 | 8/37447 | 0.011 | 0.021 |
Total: | 52/99695 | 0.026 | 0.052 | 46/99695 | 0.023 | 0.046 | 5/99695 | 0.003 | 0.005 | 4/99695 | 0.002 | 0.004 | 68/99695 | 0.034 | 0.068 |
Duplication | |||||||||||||||
ISMMS/Sema4 | 2/11096 | 0.009 | 0.018 | 2/11096 | 0.009 | 0.018 | 2/11096 | 0.009 | 0.018 | 2/11096 | 0.009 | 0.018 | 2/11096 | 0.009 | 0.018 |
CMH | 0/9760 | - | - | 3/9760 | 0.015 | 0.031 | 3/9760 | 0.015 | 0.031 | 0/9760 | - | - | 3/9760 | 0.015 | 0.031 |
DGV | 1/41392 | 0.001 | 0.002 | 3/41392 | 0.004 | 0.007 | 4/41392 | 0.005 | 0.010 | 4/41392 | 0.005 | 0.010 | 9/41392 | 0.016 | 0.022 |
ClinGen | 2/37447 | 0.003 | 0.005 | 3/37447 | 0.004 | 0.003 | 4/37447 | 0.005 | 0.011 | 4/37447 | 0.005 | 0.011 | 5/37447 | 0.007 | 0.013 |
Total: | 5/99695 | 0.002 | 0.005 | 10/99695 | 0.005 | 0.010 | 12/99695 | 0.006 | 0.012 | 10/99695 | 0.005 | 0.010 | 18/99695 | 0.009 | 0.018 |
Deletion/Duplication | |||||||||||||||
ISMMS/Sema4 | 9/11096 | 0.041 | 0.081 | 9/11096 | 0.041 | 0.081 | 2/11096 | 0.009 | 0.018 | 2/11096 | 0.009 | 0.018 | 9/11096 | 0.041 | 0.081 |
CMH | 0/9760 | - | - | 6/9760 | 0.031 | 0.061 | 3/9760 | 0.015 | 0.031 | 0/9760 | - | - | 6/9760 | 0.031 | 0.061 |
DGV | 39/41392 | 0.047 | 0.094 | 34/41392 | 0.041 | 0.082 | 8/41392 | 0.010 | 0.019 | 7/41392 | 0.008 | 0.017 | 59/41392 | 0.076 | 0.143 |
ClinGen | 9/37447 | 0.012 | 0.024 | 8/37447 | 0.011 | 0.021 | 5/37447 | 0.007 | 0.013 | 5/37447 | 0.007 | 0.013 | 13/37447 | 0.016 | 0.033 |
Total: | 57/99695 | 0.029 | 0.057 | 57/99695 | 0.029 | 0.057 | 18/99695 | 0.009 | 0.018 | 14/99695 | 0.007 | 0.014 | 87/99695 | 0.044 | 0.087 |