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Table 1 Thirty-seven single nucleotide polymorphisms (SNPs) in DNA mismatch repair (MMR) genes

From: Association between DNA mismatch repair gene polymorphisms and platinum-based chemotherapy toxicity in non-small cell lung cancer patients

Gene

SNP (rs number)

Allele

Localization

Call rate (%)

MAF

HWE

MLH1

rs10849

G/A

3′-UTR

99.55

0.09

0.764

rs1540354

A/T

Intron

97.73

0.68

0.635

rs749072

T/C

Intron

97.73

0.62

0.217

MSH2

rs10191478

T/G

Intron

97.73

0.20

0.264

rs12999145

A/G

Intron

98.64

0.53

0.783

rs13019654

G/T

Intron

96.82

0.28

0.710

rs1981929

G/A

Intron

97.27

0.86

0.309

rs2303428

A/C

Intron

98.64

0.33

0.234

rs4608577

T/G

Intron

93.18

0.13

0.106

rs4952887

C/T

Intron

98.18

0.15

0.124

rs6544991

A/C

Intron

95.00

0.36

0.605

rs7602094

T/C

Intron

95.91

0.66

0.560

MSH3

rs245340

A/C

Intron

97.73

0.24

0.203

rs245346

T/C

Intron

97.73

0.45

0.738

rs26778

A/T

Intron

96.36

0.59

0.713

rs26784

T/C

Intron

97.73

0.37

0.860

rs3816729

A/G

Intron

96.36

0.30

0.927

rs6151627

A/G

Intron

99.09

0.29

0.554

rs6151670

C/G

Intron

98.18

0.28

0.258

rs6151892

T/A

Intron

99.09

0.33

0.729

rs6151914

C/T

Intron

97.73

0.09

0.065

rs7709909

C/T

Intron

99.09

0.31

0.572

MSH4

rs3806162

T/G

5′ near gene

99.09

0.22

0.393

rs5745532

T/C

Intron

99.09

0.75

0.112

MSH5

rs3117572

G/A

Intron

98.64

0.28

0.103

rs409558

A/G

Intron

100.00

0.13

0.312

rs707937

C/G

Intron

96.82

0.42

0.369

rs707938

A/G

Synonymous

97.27

0.30

0.428

rs707939

G/T

Intron

100.00

0.39

0.097

rs805304

C/A

5′ near gene

98.18

0.69

0.448

MSH6

rs2020910

T/A

Intron

99.09

0.17

0.893

rs2348244

T/C

Intron

99.09

0.39

0.856

rs2710163

T/C

Intron

98.18

0.70

0.856

rs3136329

T/C

Intron

97.27

0.13

0.108

rs3732190

G/A

Intron

95.91

0.09

0.933

rs6713506

G/A

Intron

98.64

0.06

0.852

rs6742522

G/A

Intron

99.09

0.11

0.259

  1. MLH1 MutL homolog 1, MSH2-6 MutS homolog 2-6, A adenine, T thymine, C cytosine, G guanine, UTR untranslated region, MAF minor allele frequency, HWE Hardy–Weinberg equilibrium