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Table 2 The DSVs within the TBX5 gene promoters in AMI patients and controls

From: Identification and functional analysis of genetic variants in TBX5 gene promoter in patients with acute myocardial infarction

DSVs

Genotypes

Location1

Controls (n = 448)

AMI (n = 432)

P value

g.4100A > G

AG

-901 bp

0

1

–

g.4106G > C (rs79795050)

GG

-895 bp

360

362

0.601

 

GC

 

66

65

 
 

CC

 

2

5

 

g.4112C > T (rs7957609)

CT

-889 bp

418

413

0.125

   

27

19

 
   

3

0

 

g.4149A > G

AG

-852 bp

1

0

–

g.4194G > A

GA

-807 bp

0

1

–

g.4235G > A

GA

-766 bp

3

5

0.499

g.4260 T > C

TC

-741 bp

0

1

–

g.4367C > A

CA

-634 bp

0

1

–

g.4581A > G

AG

-420 bp

0

1

–

g.4808G > A (rs57820630)

GA

-193 bp

4

5

0.748

g.4904 T > C

TC

-97 bp

2

0

–

g.4995_96insTAATAA

−/TAATAA

-6 bp

1

0

–

g.5004G > T

GT

+ 4 bp

0

1

–

g.5109delC

T/−

+ 109 bp

1

0

–

  1. 1, DSVs are located upstream (−) to the transcription start site of TBX5 gene at 5001 of NG_007373.1