Table 4.
MAF per database. Three databases (GoNL, 1000 Genomes, and exome trios LUMC) containing phased data were checked for four DPYD variants. Two large online databases (ExAC and gnomAD) were checked to identify the MAFs of the individual DPYD variants. For each DPYD variant, the genotype distribution and MAF are shown. Abbreviations: MAF: minor allele frequency; HW: homozygous wild-type; HE: heterozygous carrier; HM: homozygous carrier; GoNL: Genome of the Netherlands; ExAC: Exome Aggregation Consortium; gnomAD: Genome Aggregation Database.
| Variants | DPYD*2A (rs3918290) | DPYD*13 (rs55886062) | c.1236G>A (rs56038477) | c.2846A>T (rs67376798) | |||||
|---|---|---|---|---|---|---|---|---|---|
| Databases | HW/HE/HM | MAF | HW/HE/HM | MAF | HW/HE/HM | MAF | HW/HE/HM | MAF | |
| GoNL | 489/7/0 | 0.7% | 494/2/0 | 0.2% | 475/21/0 | 2.1% | 490/6/0 | 0.6% | |
| 1000 Genomes | 405/2/0 | 0.2% | 406/1/0 | 0.1% | 389/18/0 | 2.2% | 403/4/0 | 0.5% | |
| Exome Trios LUMC | 946/15/0 | 0.8% | 946/0/0 | 0.00% | 946/46/0 | 2.3% | 946/2/0 | 0.1% | |
| ExAC | 60,627/624/5 | 0.5% | 60,320/42/0 | 0.03% | 60,652/1808/27 | 1.5% | 60,687/317/1 | 0.3% | |
| gnomAD | 138,489/1586/10 | 0.6% | 138,166/83/0 | 0.03% | 138,407/3841/39 | 1.4% | 138,478/792/1 | 0.3% | |