Table 1 The 14 highly enriched missense variants in Tibetans

1

231557623

rs186996510

EGLN1

c.12C > G

p.Asp4Glu

15.63

0.53

0.7

0.03

0.06

0

0

2

46707674

rs116983452

TMEM247

c.248C > T

p.Ala83Val

14.16

0.54

0.7

0.02

0.04

0

0

2

46707886

rs12612916

TMEM247

c.460G > A

p.Glu154Lys

12.22

0.32

0.85

0.51

0.54

0.04

0.12

1

231488524

rs2437150

SPRTN

c.887C > T

p.Pro296Leu

11.66

0.23

0.78

0.46

0.48

0.39

0.56

15

28197037

rs1800414

OCA2

c.1844A > G

p.His615Arg

9.76

0.51

0.11

0.59

0.59

0.12

0.11

1

42898843

rs1034268

ZMYND12

c.946 T > C

p.Phe316Leu

8.90

0.17

0.66

0.36

0.48

0.35

0.46

2

46706765

rs192690066

TMEM247

c.41C > T

p.Ala14Val

8.85

0.16

0.26

0

0

0

0

4

100574821

rs79703522

RP11-766F14.2

c.985G > C

p.Gly329Arg

8.41

0.27

0.87

0.44

0.42

0.14

0.12

7

38284804

rs4629747

TRGC2

c.356A > G

p.Asn119Ser

8.37

0.2

0.39

0.06

0.06

0.07

0.02

4

100239319

rs1229984

ADH1B

c.143A > G

p.His48Arg

8.11

0.56

0.86

0.29

0.27

0.02

0

2

61385105

rs1729671

SANBR

c.93G > C

p.Trp31Cys

8.03

0.21

0.92

0.7

0.65

0.61

0.58

2

61385100

rs1665258

SANBR

c.88G > A

p.Glu30Lys

7.72

0.21

0.92

0.7

0.65

0.61

0.58

12

113376388

rs1859330

OAS3

c.53G > A

p.Arg18Lys

7.69

0.22

0.92

0.7

0.84

0.62

0.54

19

8000104

rs3745387

TIMM44

c.347 T > C

p.Val116Ala

7.67

0.13

0.73

0.48

0.49

0.44

0.69