Table 1 Basic characteristic of selected variants and allele frequencies in the Uygur population

rs1801131

MTHFR

methylenetetrahydrofolate reductase family

Phase I

C

A

0.292

0.708

Glu429Ala

Missense

rs1801133

MTHFR

methylenetetrahydrofolate reductase family

Phase I

T

C

0.349

0.651

Ala222Val

Missense

rs890293

CYP2J2

cytochrome P450 superfamily

Phase I

G

T

0.5

0.5

-

5′ Flanking

rs3918290

DPYD

-

PhaseI

G

A

1

0

-

Donor

rs6025

F5

-

Others

G

A

0.979

0.021

Arg534Gln

Missense

rs20417

PTGS2

-

Phase I

G

C

0.99

0.01

-

5′ Flanking

rs689466

PTGS2

-

Phase I

A

G

0.721

0.279

-

5′ Flanking

rs4124874

UGT1A1

UDP-glucuronosyltransferase family

Phase II

C

A

0.474

0.526

-

5′ Flanking

rs10929302

UGT1A1

UDP-glucuronosyltransferase family

Phase II

G

A

0.763

0.237

-

5′ Flanking

rs4148323

UGT1A1

UDP-glucuronosyltransferase family

Phase II

A

G

0.125

0.875

Gly71Arg

Intronic

rs7626962

SCN5A

sodium channel gene family

Others

G

T

1

0

Ser1103Tyr

Missense

rs1805124

SCN5A

sodium channel gene family

Others

G

A

0.193

0.807

Pro1090Leu

Missense

rs6791924

SCN5A

sodium channel gene family

Others

G

A

1

0

Arg34Cys

Missense

rs3814055

NR1I2

nuclear receptor family

Others

C

T

0.641

0.359

-

5′ Flanking

rs2046934

P2RY12

G-protein coupled receptor family

Others

T

C

0.839

0.161

-

Intronic

rs1065776

P2RY1

G-protein coupled receptor family

Others

T

C

0.073

0.927

Ala19Ala

Synonymous

rs701265

P2RY1

G-protein coupled receptor family

Others

G

A

0.219

0.781

Val262Val

Synonymous

rs975833

ADH1A

alcohol dehydrogenase family

Phase I

G

C

0.625

0.375

-

Intronic

rs2066702

ADH1B

alcohol dehydrogenase family

Phase I

C

T

1

0

Arg370Cys

Missense

rs1229984

ADH1B

alcohol dehydrogenase family

Phase I

G

A

0.672

0.328

His48Arg

Missense

rs698

ADH1C

alcohol dehydrogenase family

Phase I

A

G

0.805

0.195

Ile350Val

Missense

rs17244841

HMGCR

-

Phase I

A

T

1

0

-

Intronic

rs3846662

HMGCR

-

Phase I

T

C

0.474

0.526

-

Intronic

rs17238540

HMGCR

-

Phase I

T

G

1

0

-

Intronic

rs1042713

ADRB2

adrenergic receptors family

Phase I

G

A

0.495

0.505

Arg16Gly

Missense

rs1042714

ADRB2

adrenergic receptors family

Phase I

G

C

0.153

0.847

Gln27Glu

Missense

rs1800888

ADRB2

adrenergic receptors family

Phase I

C

T

0.974

0.026

Thr164Ile

Missense

rs1142345

TPMT

methyltransferase superfamily

Phase II

G

A

0.005

0.995

Tyr240Cys

Missense

rs1800460

TPMT

methyltransferase superfamily

Phase II

A

G

0.005

0.995

Ala154Thr

Missense

rs2066853

AHR

-

Others

G

A

0.784

0.216

Arg554Lys

Missense

rs1045642

ABCB1

ATP-binding cassette (ABC) transporters superfamily

Others

T

C

0.574

0.426

Ile1145Ile

Synonymous

rs2032582

ABCB1

ATP-binding cassette (ABC) transporters superfamily

Others

G

T

0.382

0.618

Ser893Ala Ser893Thr

Missense

rs2032582

ABCB1

ATP-binding cassette (ABC) transporters superfamily

Others

G

A

0.806

0.194

rs2032582

ABCB1

ATP-binding cassette (ABC) transporters superfamily

Others

T

A

0.908

0.092

rs1128503

ABCB1

ATP-binding cassette (ABC) transporters superfamily

Others

T

C

0.667

0.333

Gly412Gly

Synonymous

rs10264272

CYP3A5

cytochrome P450 superfamily

Phase I

C

T

1

0

Lys208Lys

Not Available

rs776746

CYP3A5

cytochrome P450 superfamily

Phase I

G

A

0.984

0.016

-

Acceptor

rs4986913

CYP3A4

cytochrome P450 superfamily

Phase I

C

T

1

0

Pro467Ser

Missense

rs4986910

CYP3A4

cytochrome P450 superfamily

Phase I

T

C

1

0

Met445Thr

Missense

rs4986909

CYP3A4

cytochrome P450 superfamily

Phase I

C

T

1

0

Pro416Leu

Missense

rs12721634

CYP3A4

cytochrome P450 superfamily

Phase I

T

C

1

0

Leu15Pro

Missense

rs2740574

CYP3A4

cytochrome P450 superfamily

Phase I

A

G

0.984

0.016

-

5′ Flanking

rs3815459

KCNH2

eag family

Others

A

G

0.564

0.436

-

Intronic

rs36210421

KCNH2

eag family

Others

G

T

1

0

Arg707Leu

Missense

rs12720441

KCNH2

eag family

Others

C

T

1

0

Arg444Trp

Missense

rs3807375

KCNH2

eag family

Others

A

G

0.521

0.479

-

Intronic

rs4986893

CYP2C19

cytochrome P450 superfamily

Phase I

G

A

0.974

0.026

Trp212null

Stop Codon

rs4244285

CYP2C19

cytochrome P450 superfamily

Phase I

G

A

0.828

0.172

Pro227Pro

Synonymous

rs1799853

CYP2C9

cytochrome P450 superfamily

Phase I

C

T

1

0

Arg144Cys

Missense

rs1801252

ADRB1

adrenergic receptors family

Phase I

G

A

0.167

0.833

Ser49Gly

Missense

rs1801253

ADRB1

adrenergic receptors family

Phase I

C

G

0.813

0.188

Gly389Arg

Missense

rs5219

KCNJ11

inward-rectifier potassium channel family

Others

C

T

0.688

0.312

Lys23Glu

Intronic

rs1695

GSTP1

glutathione S-transferase family

Phase II

A

G

0.683

0.317

Ile105Val

Missense

rs1138272

GSTP1

glutathione S-transferase family

Phase II

T

C

0.058

0.942

Ala114Val

Missense

rs1800497

ANKK1

Ser/Thr protein kinase family

Phase I

T

C

0.253

0.747

Glu713Lys

Missense

rs6277

DRD2

G-protein coupled receptor family

Others

C

T

0.656

0.344

Pro290Pro

Synonymous

rs4149056

SLCO1B1

solute carrier family

Others

T

C

0.889

0.111

Val174Ala

Missense

rs7975232

VDR

nuclear receptor family

Others

C

A

0.615

0.385

-

Intronic

rs1544410

VDR

nuclear receptor family

Others

G

A

0.74

0.26

-

Intronic

rs2239185

VDR

nuclear receptor family

Others

T

C

0.395

0.605

-

Intronic

rs1540339

VDR

nuclear receptor family

Others

G

A

0.5

0.5

-

Intronic

rs2239179

VDR

nuclear receptor family

Others

A

G

0.62

0.38

-

Intronic

rs3782905

VDR

nuclear receptor family

Others

C

G

0.742

0.258

-

Intronic

rs2228570

VDR

nuclear receptor family

Others

T

C

0.316

0.684

Met51Arg,Met51Lys,Met51Thr

Missense

rs10735810

VDR

nuclear receptor family

Others

C

T

0.688

0.313

-

-

rs11568820

VDR

nuclear receptor family

Others

G

A

0.658

0.342

-

Not Available

rs1801030

SULT1A1

sulfotransferase family

Phase II

A

G

1

0

Val223Met

Not Available

rs3760091

SULT1A1

sulfotransferase family

Phase II

C

G

0.659

0.341

-

5′ Flanking

rs7294

VKORC1

-

Phase I

G

A

0.695

0.305

-

3′ UTR

rs9934438

VKORC1

-

Phase I

G

A

0.427

0.573

-

Intronic

rs28399454

CYP2A6

cytochrome P450 superfamily

Phase I

G

A

1

0

Val365Met

Missense

rs28399444

CYP2A6

cytochrome P450 superfamily

Phase I

AA

-

1

0

Glu197Ser,Glu197Arg

Frameshift

rs1801272

CYP2A6

cytochrome P450 superfamily

Phase I

T

A

1

0

Leu160His

Missense

rs28399433

CYP2A6

cytochrome P450 superfamily

Phase I

G

T

0.13

0.87

-

5′ Flanking

rs3745274

CYP2B6

cytochrome P450 superfamily

Phase I

G

T

0.792

0.208

Gln172His

Missense

rs28399499

CYP2B6

cytochrome P450 superfamily

Phase I

T

C

1

0

Ile328Thr

Missense

rs3211371

CYP2B6

cytochrome P450 superfamily

Phase I

C

T

0.495

0.505

Arg487Cys

Missense

rs12659

SLC19A1

solute carrier family

Others

C

T

0.589

0.411

Pro192Pro

Synonymous

rs1051266

SLC19A1

solute carrier family

Others

G

A

0.579

0.421

His27Arg

Missense

rs1131596

SLC19A1

solute carrier family

Others

T

C

0.872

0.128

-

5′ UTR

rs4680

COMT

-

Phase II

A

G

0.432

0.568

Val158Met

5′ Flanking

rs59421388

CYP2D6

cytochrome P450 superfamily

Phase I

C

T

1

0

Val287Met

Missense

rs28371725

CYP2D6

cytochrome P450 superfamily

Phase I

G

A

0.896

0.104

-

Intronic

rs16947

CYP2D6

cytochrome P450 superfamily

Phase I

G

A

0.726

0.274

-

Not Available

rs61736512

CYP2D6

cytochrome P450 superfamily

Phase I

C

A/G/T

1

0

Val136Met

Intronic

rs28371706

CYP2D6

cytochrome P450 superfamily

Phase I

C

T

1

0

Thr107Ile

Missense

rs5030656

CYP2D6

cytochrome P450 superfamily

Phase I

AAG

-

1

0

-

Non-synonymous