Table 3.

Number of participants in the PMBB with PGx phenotypes by ancestry based on PharmCAT annotation

Gene	Phenotype	Genetic Ancestry
		EUR	AFR	EAS	SAS	AMR	UNK	TOTAL
CACNA1S	Malignant Hyperthermia Susceptibility	4	0	0	0	0	0	4
	Uncertain Susceptibility	30.000	11.154	676	562	580	376	43.348
	No Result	4	2	1	0	0	0	7
CFTR	Ivacaftor responsive in CF patients	474	337	3	7	16	4	841
	Ivacaftor non-responsive in CF patients	29.512	10.808	674	555	564	372	42.485
	No Result	22	11	0	0	0	0	33
CYP2B6	Intermediate Metabolizer	10.475	5204	222	253	241	142	16.537
	Ultrarapid Metabolizer	30	11	3	3	0	0	47
	Ambiguous	9	0	0	0	0	0	9
	Rapid Metabolizer	965	266	57	19	15	17	1339
	Indeterminate	1398	149	2	3	13	7	1572
	Normal Metabolizer	15.056	3086	350	199	235	155	19.081
	Poor Metabolizer	1776	2060	34	80	69	48	4067
	No Result	299	380	9	5	7	7	707
CYP2C19	Intermediate Metabolizer	7538	3465	322	246	119	119	11.809
	Ultrarapid Metabolizer	1389	542	0	29	12	12	1984
	Likely Poor Metabolizer	3	71	0	0	1	1	76
	Likely Intermediate Metabolizer	25	276	0	0	6	2	309
	Rapid Metabolizer	8092	2603	9	90	126	68	10.988
	Indeterminate	7	278	0	1	3	2	291
	Normal Metabolizer	12.208	3441	245	122	305	153	16.474
	Poor Metabolizer	692	423	98	67	8	19	1307
	No Result	54	57	3	7	0	0	121
CYP2C9	Intermediate Metabolizer	6889	2369	11	48	110	71	9498
	Ambiguous	4125	341	38	107	56	43	4710
	Indeterminate	769	204	17	21	19	13	1043
	Normal Metabolizer	18.170	8177	611	386	395	247	27.986
	Poor Metabolizer	7	33	0	0	0	0	40
	No Result	48	32	0	0	0	2	82
CYP3A5	Intermediate Metabolizer	3898	5512	294	208	167	110	10.189
	Poor Metabolizer	25.959	3283	333	309	388	247	30.519
	Indeterminate	2	1	0	0	0	0	3
	Normal Metabolizer	146	2357	50	45	25	19	2642
	No Result	3	3	0	0	0	0	6
CYP4F2	Not actionable	16.837	9289	420	257	339	221	27.363
	Actionable	13.171	1867	257	305	241	155	15.996
DPYD	Intermediate Metabolizer	2028	676	16	50	21	18	2809
	Ambiguous	8	7	0	0	1	0	16
	Indeterminate	642	511	6	23	16	10	1208
	Normal Metabolizer	27.283	9952	655	487	542	348	39.267
	Poor Metabolizer	47	10	0	2	0	0	59
IFNL3/4	not actionable	13.637	2078	571	345	245	196	17.072
	actionable	16.371	9078	106	217	335	180	26.287
NUDT15	Intermediate Metabolizer	317	36	103	53	40	20	569
	Indeterminate	163	77	38	1	13	7	299
	Normal Metabolizer	29.526	11.043	524	506	527	349	42.475
	Poor Metabolizer	1	0	6	2	0	0	9
	Possible Intermediate Metabolizer	0	0	6	0	0	0	6
	No Result	1	0	0	0	0	0	1
RYR1	Malignant Hyperthermia Susceptibility	23	11	0	0	0	0	34
	Uncertain Susceptibility	29.979	11.143	676	562	580	376	43.316
	No Result	6	2	1	0	0	0	9
TPMT	Intermediate Metabolizer	2293	1068	17	18	68	36	3500
	Indeterminate	466	995	16	10	15	11	1513
	Normal Metabolizer	27.118	9007	643	533	493	325	38.119
	Poor Metabolizer	54	34	0	0	1	1	90
	Possible Intermediate Metabolizer	61	48	1	1	1	3	115
	No Result	16	4	0	0	2	0	22
UGT1A1	Intermediate Metabolizer	14.594	5708	274	316	276	182	21.350
	Ambiguous	11	6	0	0	0	0	17
	Indeterminate	1322	702	3	44	24	6	2101
	Normal Metabolizer	11.966	3233	328	140	232	146	16.045
	Poor Metabolizer	1528	1199	67	44	37	31	2906
	No Result	587	308	5	18	11	11	940
VKORC1	Actionable	19.264	2327	663	183	389	252	23.078
	Not actionable	10.744	8829	14	379	191	124	20.281
SLCO1B1	Increased Function	1280	155	0	1	9	5	1450
	Poor Function	825	66	11	5	7	10	924
	Possible Decreased Function	28	160	0	0	0	4	192
	Ambiguous	479	29	0	0	6	1	515
	Normal Function	19.382	7234	509	452	408	243	28.228
	Indeterminate	250	2279	14	39	7	12	2601
	Decreased Function	7764	1233	143	65	143	101	9449
rs12777823	Not actionable	29.406	10.501	618	499	572	359	41.955
	Actionable	602	655	59	63	8	17	1404

^{*Indeterminate means the called genotype did not have an assigned function in the CPIC guidelines. No Result means that the genotype could not be called due to missing or invalid positions}