Table 2 Lead variant association per gene among significant genes in the burden and SKAT-O tests

LoF

4

TET2

rs370735654

T

17

–

7.9

6.1 \(\times {10}^{-10}\)

–

11

ATM

rs587779834

A

113

–

2.5

3.1 \(\times {10}^{-5}\)

Prostate Cancer⁷⁸

13

BRCA2

rs80359705

A

13

–

11.4

2.5 \(\times {10}^{-9}\)

Breast Cancer⁷⁹

15

CKMT1B

rs1355844751

T

8

–

4.7

7.0 \(\times {10}^{-3}\)

–

17

BRCA1

rs80356991

A

11

–

3.7

3.4 \(\times {10}^{-3}\)

Breast Cancer⁸⁰

20

ASXL1

rs750318549

AG

201

–

2.8

3.5 \(\times {10}^{-19}\)

Leukemia⁸¹

AlphaMissense

1

C1orf52

rs769009649

A

62

0.876

3.3

3.4 \(\times {10}^{-7}\)

–

2

DNMT3A

rs147001633

T

269

0.995

1.8

8.8 \(\times {10}^{-6}\)

Leukemia⁸²

2

SF3B1

rs377023736

A

12

0.999

7.3

2.5 \(\times {10}^{-9}\)

–

4

TET2

rs76428136

G

5

0.913

9.4

1.0 \(\times {10}^{-4}\)

–

10

PTEN

rs587782350

T

3

0.941

14.7

7.2 \(\times {10}^{-3}\)

Gastric Cancer⁸³

13

SOX21

rs1172148601

A

67

0.856

2.4

1.0 \(\times {10}^{-3}\)

–

15

IDH2

rs121913502

T

45

0.987

6.8

9.2 \(\times {10}^{-25}\)

Leukemia⁸⁴

17

TP53

rs11540652

T

5

0.996

11.5

2.3 \(\times {10}^{-5}\)

Breast Cancer⁸⁵

17

SRSF2

rs751713049

T

51

0.982

6.7

9.3 \(\times {10}^{-31}\)

–

X

RLIM

rs75871009

G

6

0.861

6.2

6.0 \(\times {10}^{-7}\)

–