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Table 1 Comparison of collapsing within family data and collapsing within population-based data

From: Challenges and directions: an analysis of Genetic Analysis Workshop 17 data by collapsing rare variants within family data

Chromosome

Gene

Number of synonymous SNPs

Number of nonsynonymous SNPs

Total number of SNPs

Number of risk SNPs

Family

Population

      

Power (All) (%)a

Power (nonsynonymous) (%)b

Power (All) (%)a

Power (nonsynonymous) (%)b

6

VEGFA

2

2

4

1

100

100

13

10

4

VEGFC

0

1

1

1

100

100

0

0

10

SIRT1

9

14

23

9

19

47

7

8

17

SREBF1

5

16

21

10

19

36

17

18

1

PIK3R3

3

2

5

1

11

1

2

2

9

VLDLR

8

15

23

8

10

4

10

9

8

PLAT

14

11

25

8

8

34

6

7

5

FLT4

3

5

8

2

6

13

15

15

4

KDR

5

9

14

8

0

0

45

35

18

PIK3C3

5

1

6

1

0

0

38

0

8

PTK2B

6

3

9

3

0

0

31

4

14

SOS2

1

6

7

2

0

0

22

25

13

FLT1

8

17

25

8

2

1

21

17

3

BCHE

3

25

26

13

0

1

19

19

11

PDGFD

0

6

6

4

6

6

19

19

14

HIF1A

2

5

7

3

0

0

17

17

8

PTK2

4

5

9

2

0

0

14

6

1

PIK3C2B

22

38

60

23

2

0

14

16

1

SHC1

3

3

6

1

0

0

13

5

6

VNN1

4

2

6

1

1

2

7

13

  1. Power is calculated based on the threshold P< 0.05. Because of limited space, only those genes whose power is greater than 10% are shown.
  2. a All rare SNPs were collapsed.
  3. b Only nonsynonymous rare SNPs were collapsed.