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Table 2 AACDS classification of homozygous nsSNPs in 12 genomes

From: An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation

 

Features of SNP

Subject id, ethnicity, sex

Total #nsSNPs

Disease-causing

Deleterious count ≥ 3

In disease genes

In trait genes

1

2

3

4

5

6

7

8

9

10

11

12

Afr, F

Afr, F

Afr, F

Afr, F

Cau, F

Cau, F

Cau, F

Cau, F

Cau, M

Cau, M

Cau, M

Cau, M

Category

1

X

   

1

None

None

None

1

None

None

1

1

None

1

None

5

2A

  

X

 

8

7

6

5

6

5

11

7

12

7

10

9

93

2B

 

X

X

 

1

None

None

None

2

2

4

1

2

None

2

None

14

3A

   

X

9

24

17

7

6

10

9

10

5

13

16

10

136

3B

 

X

 

X

1

5

None

none

1

1

3

4

2

2

None

2

21

4

 

X

  

5

5

8

6

None

5

3

7

4

6

5

4

58

5

  

X

X

14

21

20

10

8

12

9

11

13

18

20

14

170

6

    

68

40

49

42

46

32

33

33

40

56

45

55

539

Total #unique nsSNPs

88

71

77

58

57

52

50

55

60

82

72

75

797

  1. The number of homozygous nsSNPs per individual and the number of SNPs in each AACDS category are specified.