Skip to main content

Table 2 Adding a combination of rare SNPs to a common SNP significantly increases the signal of association with disease

From: Addition of multiple rare SNPs to known common variants improves the association between disease and gene in the Genetic Analysis Workshop 17 data

Gene

Common SNP

Number of rare SNPs

p-value

SNP(s) removed

p-value

MAP3K6

C1S1886

4

2.13 × 10−8

C1S18877

2.13 × 10−8

PTK2B

C8S911

9

1.08 × 10−7

C8S936

2.9 × 10−3

    

C8S900

5.12 × 10−9

    

C8S900, C8S908

8.93 × 10−10

ETV6

C12S860

2

5.53 × 10−7

C12S863

3 × 10−4

    

C12S861

6 × 10−4

BRCA1

C17S2996

13

1.54 × 10−16

C17S3009

1.97 × 10−21

    

C17S3002, C17S3009

1.01 × 10−25

BRCA1

C17S3006

13

4.45 × 10−11

C17S3002

2.88 × 10−14

BRCA1

C17S3010

13

7.27 × 10−10

C17S3002

6.73 × 10−13

BRCA1

C17S3014

13

5.33 × 10−9

C17S3002

5.04 × 10−12

BRCA1

C17S3016

13

1.31 × 10−10

C17S3009

8.75 × 10−15

LOC645118

C19S2844

1

NS

C19S2846

9 × 10−4

TNK1

C17S511

3

NS

C17S515, C17S521

4.78 × 10−5

VNN1

C6S5380

4

NS

C6S5377, C6S5379

1.5 × 10−4

  1. Removing one or two rare SNPs can make this association even stronger. NS, not significant at the 0.001 significance level.