Table 2. Rare pharmacogenetic variants present in Saudi population in comparison to other populations.
| Minor allele frequency (%) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene | RSID | Variant type | SA | AFR | AMR | ASJ | EAS | FIN | NFE | SAS | GME | QARB | Kaviar |
| CYP2C9 | rs771127798 | Frameshift | 0.076 | 0 | 0 | 0 | 0 | 0 | <0.01 | 0 | 0 | 0 | <0.01 |
| CYP2C9 | rs200985348 | Stop-gained | 0.017 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | <0.01 |
| CYP3A5 | rs1267703650 | Missense (I442T) | 0.135 | 0 | <0.01 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| CYP4F2 | rs780094643 | Missense(G417V) | 0.130 | 0 | 0 | 0 | 0 | 0 | <0.01 | 0 | 0.1 | 0 | <0.01 |
| CYP4F2 | rs763539865 | Frameshift | 0.421 | 0 | 0 | 0 | 0 | 0 | 0 | <0.01 | 0 | 0 | <0.01 |
| DPYD | rs568132506 | Missense(P86L) | 0.324 | 0 | 0.009 | 0 | 0 | 0 | 0.006 | <0.01 | 0.05 | 0.3 | 0.007 |
A complete summary of rare variants in Saudi population is presented in S2 Table. SA, Saudi Arabia; AFR, Africans; AMR, Latin/Admixed Americans; ASJ, Ashkenazi Jews; EAS, East Asians; FIN, European Finish; NFE, Non-Finish European; SAS, South Asians; GME, Greater Middle East Variome; QARB, Qatari Arabs; RSID, reference SNP cluster ID.