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Table 3 Dominant and recessive model analysis of the allelic frequencies of SNPs in this study

From: Study of variants associated with ventricular septal defects (VSDs) highlights the unique genetic structure of the Pakistani population

SNP (Gene)

Model

Genotype

Cases

Controls

OR (CI)

P-value

rs1017

(g.16138A > T)

(ISL1)

Dominant

T/T

37 (36.6%)

71 (71%)

0.21 (0.11–0.39)

 < 0.0001

A/T-A/A

64 (63.4%)

29 (29%)

1.00

Recessive

T/T-A/T

48 (47.5%)

79 (79%)

0.24 (0.13–0.43)

 < 0.0001

A/A

53 (52.5%)

21 (21%)

1.00

Alleles

T

85 (0.42)

150 (0.75)

0.242 (0.158–0.37)

 < 0.0001

A

117 (0.58)

50 (0.25)

rs7240256 (g.23449 T > C)

(NFATc1)

Dominant

T/T

18 (17.8%)

55 (55%)

1.00

 < 0.0001

T/C–C/C

83 (82.2%)

45 (45%)

0.18 (0.09–0.34)

Recessive

T/T-T/C

97 (96%)

99 (99%)

1.00

0.16

C/C

4 (4%)

1 (1%)

0.24 (0.03–2.23)

Alleles

T

115(0.57)

154(0.77)

2.53(1.64–3.89)

 < 0.0001

C

87 (0.43)

46(0.23)

rs36208048 (g.3877C > A)

(VEGF)

Dominant

C/C

69 (68.3%)

67 (67%)

1.00

0.84

C/A

32 (31.7%)

33 (33%)

1.06 (0.59–1.92)

Alleles

C

170 (0.84)

167 (0.84)

0.952(0.56–1.62)

0.8577

A

32 (0.16)

33 (0.16)

rs11067075 (g.51682G > T)

(TBX5)

Dominant

G/G

21 (20.8%)

56 (56%)

1.00

 < 0.0001

G/T-T/T

80 (79.2%)

44 (44%)

0.21 (0.11–0.38)

Recessive

G/G-G/T

92 (91.1%)

92 (92%)

1.00

0.82

T/T

9 (8.9%)

8 (8%)

0.89 (0.33–2.40)

Alleles

G

113(0.56)

148(0.74)

2.24(1.47–3.41)

0.0002

T

89(0.44)

52(0.26)

rs1801133 (g.14783C > T)

(MTHFR)

Dominant

C/C

25 (24.8%)

88 (88%)

1.00

 < 0.0001

C/T-T/T

76 (75.2%)

12 (12%)

0.04 (0.02–0.10)

Recessive

C/C–C/T

88 (87.1%)

98 (98%)

1.00

0.002

T/T

13 (12.9%)

2 (2%)

0.14 (0.03–0.63)

Alleles

C

113 (0.56)

186(0.93)

10.46(5.68–19.26)

 < 0.0001

T

89 (0.44)

14(0.07)