Skip to main content
. 2022 Jan 28;17(1):e0263137. doi: 10.1371/journal.pone.0263137

Table 3. Novel pharmacogenomics variants in Saudi population.

Gene Variant Variant type Minor allele frequency, SA (%)
CYP2C19 NM_000769.4:c.914C>A:p.Thr305Asn missense 0.00420557
CYP2C19 NM_000769.4:c.332-1G>A splice acceptor 0.00841114
CYP2C19 NM_000769.4:c.482-2A>G splice acceptor 0.00841114
CYP2C19 NM_000769.4:c.1034T>C:p.Met345Thr missense 0.01682227
CYP2C19 NM_000769.4:c.1071A>C:p.Arg357Ser missense 0.00841114
CYP2C9 NM_000771.4:c.1023C>G:p.Asp341Glu missense 0.00420557
CYP2C9 NM_000771.4:c.893G>C:p.Gly298Ala missense 0.01261670
CYP2C9 NM_000771.4:c.961+1G>A splice donor 0.00841114
CYP2C9 NM_000771.4:c.1061A>G:p.Glu354Gly missense 0.00420557
CYP2C9 NM_000771.4:c.1198G>T:p.Glu400Ter stop gained 0.01682227
CYP2C9 NM_000771.4:c.1243G>T:p.Glu415Ter stop gained 0.00420557
CYP3A5 NM_000777.5:c.1205A>G:p.His402Arg missense 0.00420557
CYP3A5 NM_000777.5:c.1120G>A:p.Glu374Lys missense 0.00420557
CYP3A5 NM_000777.5:c.1067T>C:p.Leu356Pro missense 0.00420557
CYP3A5 NM_000777.5:c.1063T>C:p.Tyr355His missense 0.00420557
CYP3A5 NM_000777.5:c.957T>A:p.Tyr319Ter stop gained 0.01682227
CYP3A5 NM_000777.5:c.931A>G:p.Ser311Gly missense 0.00420557
CYP3A5 NM_000777.5:c.409T>C:p.Phe137Leu missense 0.00420557
CYP3A5 NM_000777.5:c.219-2A>G splice acceptor 0.00420557
CYP4F2 NM_001082.5:c.1288A>T:p.Asn430Tyr missense 0.02102784
CYP4F2 NM_001082.5:c.1231G>C:p.Gly411Arg missense 0.00420557
CYP4F2 NM_001082.5:c.985G>A:p.Gly329Ser missense 0.00420557
CYP4F2 NM_001082.5:c.889G>T:p.Asp297Tyr missense 0.00841114
DPYD NM_000110.4:c.2836delG:p.Ala946LeufsTer2 frameshift 0.00841114
DPYD NM_000110.4:c.1526C>G:p.Ser509Ter stop gained 0.00420557
DPYD NM_000110.4:c.958+1G>A splice donor 0.00841114
DPYD NM_000110.4:c.390T>A:p.Cys130Ter stop gained 0.00420557
DPYD NM_000110.4:c.2912T>C:p.Ile971Thr missense 0.05467239
DPYD NM_000110.4:c.2310C>G:p.Ile770Met missense 0.00420557
DPYD NM_000110.4:c.2137A>C:p.Asn713His missense 0.00420557
DPYD NM_000110.4:c.2083T>G:p.Cys695Gly missense 0.00420557
DPYD NM_000110.4:c.1804C>A:p.Pro602Thr missense 0.00420557
DPYD NM_000110.4:c.1679T>C:p.Ile560Thr missense 0.00420557
DPYD NM_000110.4:c.1657C>T:p.Pro553Ser missense 0.00420557
DPYD NM_000110.4:c.1591G>A:p.Val531Met missense 0.00420557
DPYD NM_000110.4:c.1405A>G:p.Met469Val missense 0.00420557
DPYD NM_000110.4:c.1309G>A:p.Ala437Thr missense 0.00841114
DPYD NM_000110.4:c.1076T>C:p.Val359Ala missense 0.00420557
DPYD NM_000110.4:c.574C>T:p.Leu192Phe missense 0.00420557
DPYD NM_000110.4:c.431C>T:p.Ala144Val missense 0.01682227
DPYD NM_000110.4:c.217C>T:p.Leu73Phe missense 0.00420557
DPYD NM_000110.4:c.194C>A:p.Thr65Lys missense 0.00420557
TPMT NM_000367.5:c.581G>A:p.Gly194Asp missense 0.00841114
TPMT NM_000367.5:c.454A>G:p.Arg152Gly missense 0.01682227
TPMT NM_000367.5:c.202C>A:p.Pro68Thr missense 0.00420557
VKORC1 NM_024006.6:c.404G>A:p.Cys135Tyr missense 0.01261670