. 2019 Oct 10;10:1169. doi: 10.3389/fphar.2019.01169

Table 2.

Allele frequencies for 17 actionable pharmacogenetic variants.

Variants	Natives	Mestizo	gMAF¹	MXL¹	CEU¹	YRI¹	CHB¹	PGKB, minor allele impact, drugs
ABCB1 (182)	66	118						Decreased enzyme activity affecting toxicity and efficacy of nevirapine, ondasteron, methotrexate, fentanyl, digoxin, simvastatin
rs1045642	0.436	0.515	0.395	0.480	0.430	0.880	0.620
rs2032582	0.410	0.539	0.334	0.550	0.560	1	0.440
ACE (251)	72	273						No PGKB variants detected
APOE (24)	6	22						PGKB evidence level 2
rs7412	0	0.036	0.075	0.050	0.070	0.110	0.110	Atorvastatin efficacy
CBR3 (40)	10	34						PGKB evidence level 2
rs1056892	0.277	0.241	0.427	0.280	0.310	0.510	0.390	Anthracyclines PK
CYP2C19 (173)	62	170						PGKB evidence level 1
rs4244285	0.053	0.1	0.220	0.110	0.130	0.170	0.340	PM, decreased enzyme activity; drugs affected: proton pump inhibitors, clopidogrel, citalopram, imipramine, diazepam, mephenytoin
rs4986893	0	0.001	0.1	0	0	0	0.040
rs28399504	0	0.006	0.002	0.010	0	0	0.010
CYP2C9 (96)	37	72						PGKB evidence level 1
rs1799853	0.011	0.049	0.050	0.100	0.150	0	0	Poor metabolizers, decreased enzyme activity; drugs affected: NSAIDs, phenytoin, cumarins
rs1057910	0.016	0.031	0.050	0.020	0.070	0	0.040
CYP2B6 (103)	50	89						PGKB evidence level 1 and 2
rs2279343	0.351	0.240	0.302	0.270	0.210	0.460	0.190	Altered enzyme activity; affecting toxicity and pharmacokinetics of efavirenz, nevirapine, methadone.
rs28399499	0	0.003	0.023	0.01	0	0.120	0
rs3745274	0.351	0.318	0.295	0.31	0.280	0.400	0.160
rs4803419	0.596	0.522	0.289	0.420	0.280	0.04	0.500
CYP2D6 (76)	38	72						Other relevant PGKB genes
rs1065852	0.124	0.102	0.240	0.150	0.240	0.110	0.400	PM, decreased enzyme activity affecting, loperidone, escitalopram, nevirapine, timolol
rs28371706	0.005	0.007	0.060	0	0	0.750	0
rs28371725	0	0.028	0.064	0.020	0.120	0.010	0.030
rs16947	0.796	0.778	0.360	0.740	0.680	0.440	0.840
CYP3A5 (90)	26	88						PGKB evidence level 1 and 2
rs776746	0.303	0.189	0.380	0.230	0.040	0.830	0.310	PM, decreased enzyme activity; drugs affected: tacrolimus.
CYP3A4 (76)	29	78
rs2740574	0.069	0.071	0.230	0.070	0.020	0.210	0
COMT (235)
rs4680	0.399	0.391	0.370	0.400	0.470	0.310	0.320	Decreased activity affecting nicotine replacement therapy
DPYD (119)	48	105						PGKB evidence level 1
rs67376798	0	0.001	0.002	0	0.010	0	0	PM, decreased enzyme activity; affecting fluoropyrimidines
NAT2 (33)	15	26						PGKB evidence level 1
rs1041983	0.303	0.299	0.400	0.270	0.300	0.500	0.360	PM, decreased enzyme activity; affecting: ethambutol, isoniazid, pyrazinamide, rifampin
rs1799930	0.059	0.120	0.265	0.130	0.300	0.200	0.300
SLCO1B1 (124)	60	98						PGKB evidence levels 1 and 2
rs4149056	0.117	0.091	0.090	0.080	0.150	0.010	0.140	Impaired transporter activity affecting statins
rs4149015	0	0.017	0.055	0.020	0.040	0	0.120	Impaired transporter activity affecting statins
TPMT (82)	27	54						Other relevant PGKB genes
rs1800462	0	0.002	0.002	0	0	0	0	Poor metabolizers, decreased enzyme activity, affecting tiopurines capecitabine
rs1800460	0.048	0.049	0.010	0.040	0.030	0	0
rs1142345	0.048	0.052	0.040	0.050	0.030	0.060	0.010
UGT1A (318)	68	268						PGKB evidence levels 1 and 2
rs887829	0.335	0.3	0.350	0.370	0.320	0.520	0.110	Decreased protein levels affecting irinotecan, deferasirox, atazanavir
rs4148323	0.043	0.030	0.030	0.020	0.010	0	0.230
VKORC1 (66)	22	61						PGKB evidence level 1
rs7294	0.441	0.447	0.420	0.35	0.31	0.510	0.040	PM, decreased enzyme activity; drugs affected: cumarins
rs8050894	0.537	0.381	0.420	0.510	0.430	0.230	0.960
rs9934438	0.537	0.431	0.360	0.470	0.430	0.030	0.960
rs9923231	0.543	0.402	0.360	0.470	0.430	0.030	0.960

¹Data from 1000 Genomes (Auton et al., 2015). In parenthesis, total number of variants identified per gene.