TABLE 2.
Geographical-ethnicity differences in the variation and frequency of DPYD variants.
| db SNP rsID | Nucleotide change | Frequency (%) | gnomAD AMR (%) | gnomAD ASJ (%) | gnomAD EAS (%) | gnomAD NFE (%) | gnomAD AFR (%) |
|---|---|---|---|---|---|---|---|
| — | 74A > G | 0.01 | |||||
| rs1801265 | 85T > C (*9A, *9B) | 3.05 | 24.74 | 11.07 | 7.23 | 22.54 | 40.32 |
| rs527580106 | 229A > G | 0.01 | 0.002 | ||||
| rs1212037891 | 325T > A | 0.23 | 0.01 | ||||
| rs200562975 | 451A > G | 0.23 | 0.42 | 0.06 | 0.003 | 0.02 | |
| rs2297595 | 496A > G | 2.18 | 6.66 | 8.42 | 1.62 | 10.11 | 3.36 |
| rs371792178 | 524C > T | 0.03 | 0.007 | 0.003 | 0.01 | ||
| — | 572C > T | 0.01 | 0.001 | ||||
| rs767836989 | 733A > T | 0.04 | |||||
| — | 871G > A | 0.01 | |||||
| rs143879757 | 893C > T | 0.01 | 0.007 | ||||
| rs183105782 | 910T > C | 0.03 | 0.04 | ||||
| — | 937G > T | 0.03 | |||||
| rs1400122790 | 963G > A | 0.01 | |||||
| rs72549306 | 1003G > A | 0.13 | 0.002 | ||||
| rs143154602 | 1057C > T | 0.01 | 0.001 | ||||
| rs1285381791 | 1061G > A | 0.03 | |||||
| — | 1097G > C | 0.03 | 0.02 | ||||
| — | 1139C > T | 0.01 | |||||
| — | 1150A > G | 0.01 | |||||
| rs748620513 | 1300G > C | 0.03 | 0.04 | ||||
| — | 1312T > G | 0.01 | |||||
| rs148994843 | 1543G > A | 0.03 | 0.007 | 0.009 | |||
| rs777368221 | 1572T > G | 0.06 | 0.06 | ||||
| rs1180771326 | 1582A > G | 0.01 | |||||
| rs1801159 | 1627A > G (*5) | 26.94 | 23.69 | 19.43 | 25.52 | 19.60 | 15.82 |
| rs1314015254 | 1678A > G | 0.03 | |||||
| rs55886062 | 1679T > G (*13) | — | 0.007 | 0.07 | 0.02 | ||
| rs59086055 | 1774C > T | 0.01 | 0.01 | 0.003 | 0.005 | ||
| — | 1811A > T | 0.01 | |||||
| rs3918290 | 1905 + 1 G > A (*2A) | — | 0.17 | 0.69 | 0.50 | 0.06 | |
| rs1801160 | 2194G > A (*6) | 1.91 | 4.60 | 10.68 | 1.54 | 4.52 | 2.45 |
| rs368327291 | 2212G > C | 0.01 | 0.02 | ||||
| — | 2243G > A | 0.03 | 0.02 | ||||
| rs56005131 | 2303C > A | 2.42 | 0.50 | 0.01 | |||
| rs1335150891 | 2420A > G | 0.03 | |||||
| — | 2476G > A | 0.1 | |||||
| rs571114616 | 2528T > C | 0.01 | 0.002 | ||||
| rs1801267 | 2657G > A (*9B) | 0.01 | 0.001 | 0.007 | |||
| rs188052243 | 2678A > G | 0.23 | 0.04 | ||||
| — | 2777G > T | 0.01 | |||||
| — | 2816G > A | 0.01 | |||||
| rs67376798 | 2846A > T | — | 0.17 | 0.06 | 0.60 | 0.12 | |
| — | 2969C > T | 0.01 |
Data of each frequency were referenced to gnomAD v3.1.2 (https://gnomad.broadinstitute.org/) (cited 20 May 2022). AMR, Latino/Admixed American; ASJ, ashkenazi jewish; EAS, east asian; NFE, Non-Finnish European; AFR, African/African American.