Table 2.
Data search results for CYP2C9 and CYP2C19 variants in gnomAD data bank.
The data base search results were obtained from gnomAD (http://gnomad.broadinstitute.org/) and dbSNP (https://www.ncbi.nlm.nih.gov/projects/SNP/) in August 2018.
| Gene | cDNA Change | dbSNP data bank | gnomAD Data Bank |
|
|---|---|---|---|---|
| rsIDs | Validation | (Minor allele frequency) | ||
| CYP2C9 | 218C>T | rs762081829 | Not done | 5.69 x 10-05 |
| CYP2C9 | 229C>A | Not present | Not recorded | |
| CYP2C9 | 343A>C | rs771237265 | 1 | 1.01 x 10-04 |
| CYP2C9 | 707delA | Not present | Not Recorded | |
| CYP2C9 | 709G>C | Not present | Not recordeda | |
| CYP2C9 | 791T>C | rs761895497 | 1 | 1.09 x 10-05 |
| CYP2C9 | 801C>T | rs149158426 | 1,2,3 | 8.55 x 10-04 |
| CYP2C19 | 65A>G | rs144928727 | 3 | 1.22 x 10-05 |
| CYP2C19 | 337G>A | rs145119820 | 1,2,3 | 2.24 x 10-04 |
| CYP2C19 | 518C>T | rs61311738 | 1,2,3 | 4.66 x 10-03 |
| CYP2C19 | 556C>T | rs183701923 | 1,2,3 | 9.74 x 10-05 |
| CYP2C19 | 557G>A | rs140278421 | 1,2,3 | 1.08 x 10-04 |
| CYP2C19 | 578A>G | Not present | 4.06 x 10-06 | |
| CYP2C19 | 815A>G | Not present | Not recorded | |
rsID, reference SNP identification; 1, Validated by frequency or genotype data (minor alleles were observed in at least two chromosomes); 2, SNP has been sequenced in 1000 genome project; 3, Validated by multiple, independent submissions to the reference SNP cluster.
a
(other mutations to Ile, Phe, Val and Ala recorded at this position).