Table 3 Number of participants in the PMBB with PGx phenotypes by ancestry based on PharmCAT annotation

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