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Table 1 Effect allele frequencies (EAFs) of 31 late age-related macular degeneration related single nucleotide polymorphisms in continental groups, including Koreans

From: Comparison of risk allele frequencies of single nucleotide polymorphisms associated with age-related macular degeneration in different ethnic groups

SNP ID

Chr

Position

Function

Ref allele

Alt allele

Nearby/containing Gene

Global EAF

AMR EAF

AMR log10 P

AFR EAF

AFR log10 P

EAS EAF

EAS log10 P

SAS EAF

SAS log10 P

EUR EAF

EUR log10 P

KOR EAF

KOR log10 P

rs10033900

chr4

110,659,067

intergenic

T

C

CFI

0.49

0.53

1.06

0.66

27.44

0.39

−8.01

0.31

−23.92

0.54

2.30

0.34

−43.57

rs10781182

chr9

76,617,720

intergenic

T

G

MIR6130/RORB

0.46

0.54

3.26

0.15

−101.56

0.49

1.04

0.53

3.66

0.70

42.77

0.41

−4.43

rs10922109

chr1

196,704,632

intronic

C

A

CFH

0.51

0.55

1.06

0.56

2.79

0.44

−4.05

0.56

2.15

0.43

−5.16

0.47

−3.33

rs11080055

chr17

26,649,724

intronic

A

C

TMEM97/VTN

0.58

0.58

0.00

0.61

1.23

0.72

16.01

0.48

−7.41

0.49

−6.53

0.76

64.55

rs1142

chr7

104,756,326

downstream

C

T

KMT2E/SRPK2

0.31

0.33

0.31

0.27

−2.23

0.37

3.55

0.23

−5.81

0.36

2.56

0.34

1.89

rs11884770

chr2

228,086,920

ncRNA_intronic

T

C

COL4A3

0.67

0.72

1.62

0.49

−31.04

0.78

11.41

0.73

3.30

0.71

1.76

0.76

20.03

rs12019136

chr19

5,835,677

intronic

G

A

C3

0.15

0.05

−14.85

0.32

39.45

0.14

−0.34

0.14

−0.31

0.04

−24.78

0.08

−23.98

rs12357257

chr10

24,999,593

intronic

G

A

ARHGAP21

0.14

0.17

1.07

0.11

−2.37

0.05

−15.48

0.16

0.79

0.25

15.64

0.03

−65.27

rs13081855

chr3

99,481,539

ncRNA_intronic

G

T

COL8A1/FILIP1L

0.07

0.06

−0.31

0.03

−4.92

0.05

−1.23

0.10

3.36

0.10

3.01

0.03

−15.11

rs1626340

chr9

101,923,372

intergenic

G

A

TGFBR1/COL15A1

0.29

0.25

−1.07

0.29

0.00

0.46

23.83

0.24

−2.47

0.21

−6.58

0.51

95.30

rs181705462

chr6

31,947,027

intronic

G

T

C2/CFB/SKIV2L

0.01

0.01

0.00

0.01

0.18

0.00

−1.52

0.02

0.66

0.01

0.38

0.00

−4.86

rs2043085

chr15

58,680,954

intergenic

T

C

AQP9;LIPC

0.49

0.62

8.95

0.36

−16.28

0.50

0.23

0.44

−2.15

0.63

15.08

0.48

−0.30

rs2230199

chr19

6,718,387

exonic

G

C

C3

0.09

0.10

0.31

0.03

−11.70

0.00

−30.53

0.10

0.66

0.22

28.35

0.00

−97.67

rs2740488

chr9

107,661,742

intronic

A

C

ABCA1

0.33

0.28

−1.62

0.43

10.40

0.24

−7.72

0.38

2.29

0.25

−6.05

0.26

−12.12

rs3138141

chr12

56,115,778

ncRNA_intronic

C

A

RDH5/CD63/MMP19

0.15

0.11

−1.86

0.01

−61.21

0.12

−1.76

0.38

53.57

0.19

2.57

0.07

−32.36

rs3750846

chr10

124,215,565

intronic

T

C

ARMS2/HTRA1

0.29

0.25

−1.07

0.26

−1.44

0.41

12.35

0.34

2.47

0.19

−10.25

0.42

32.52

rs429358

chr19

45,411,941

exonic

T

C

APOE

0.15

0.10

−2.81

0.27

21.51

0.09

−7.38

0.09

−6.61

0.16

0.37

0.09

−14.75

rs55975637

chr3

99,419,853

ncRNA_intronic

G

A

COL8A1

0.08

0.08

−0.04

0.05

−2.62

0.06

−1.52

0.09

0.40

0.12

4.31

0.03

−20.71

rs570618

chr1

196,657,064

intronic

T

G

CFH

0.78

0.78

0.00

0.81

1.71

0.95

43.09

0.71

−4.95

0.64

−18.54

0.92

72.90

rs5754227

chr22

33,105,817

intronic

T

C

SYN3/TIMP3

0.37

0.39

0.31

0.56

33.60

0.61

42.65

0.12

−57.77

0.13

−53.79

0.67

167.56

rs61818925

chr1

196,815,450

intergenic

T

G

CFHR1

0.59

0.52

−2.60

0.72

17.39

0.41

−24.37

0.69

7.77

0.58

−0.26

0.50

−15.15

rs61985136

chr14

68,769,199

intronic

C

T

RAD51B

0.45

0.60

11.79

0.13

−110.82

0.45

0.00

0.63

23.38

0.58

12.87

0.42

−2.45

rs62247658

chr3

64,715,155

ncRNA_intronic

C

T

ADAMTS9-AS2

0.28

0.29

0.15

0.13

−30.69

0.24

−1.92

0.22

−3.58

0.56

60.51

0.20

−15.79

rs6565597

chr17

79,526,821

intronic

C

T

NPLOC4/TSPAN10

0.24

0.23

−0.15

0.16

−9.47

0.21

−1.28

0.26

0.66

0.36

13.46

0.21

−2.48

rs67538026

chr19

1,031,438

intronic

C

T

CNN2

0.38

0.33

−1.54

0.15

−60.48

0.52

15.07

0.49

8.86

0.45

4.28

0.50

24.75

rs72802342

chr16

75,234,872

intergenic

C

A

CTRB2/CTRB1

0.06

0.06

0.00

0.01

−21.05

0.13

11.80

0.04

−1.35

0.08

1.56

0.11

15.95

rs73036519

chr19

45,748,362

intergenic

G

C

EXOC3L2/MARK4

0.23

0.17

−2.80

0.36

19.67

0.00

−98.90

0.29

3.66

0.29

4.05

0.00

− 284.04

rs7803454

chr7

99,991,548

intronic

C

T

PILRB/PILRA

0.09

0.11

1.00

0.03

−16.28

0.03

−11.57

0.11

1.42

0.19

18.37

0.02

−37.14

rs8135665

chr22

38,476,276

intronic

C

T

SLC16A8

0.25

0.31

2.43

0.37

16.33

0.14

−14.06

0.20

−2.76

0.22

−1.32

0.10

−65.11

rs943080

chr6

43,826,627

intergenic

C

T

VEGFA

0.67

0.52

−12.42

0.83

30.61

0.73

3.60

0.67

0.00

0.51

−20.22

0.67

0.14

rs9564692

chr13

31,821,240

intronic

C

T

B3GALTL

0.50

0.51

0.15

0.45

−2.79

0.71

33.55

0.54

1.42

0.33

−22.06

0.73

101.51

  1. Chr chromosome, EAF effect allele frequency, ref. allele reference allele, alt allele alterative allele, AMR Americans, AFR Africans, EAS East Asians, SAS South Asians, EUR Europeans, KOR Koreans P-value: adjusted Fischer’s test assuming 138 hypotheses, statistical significance was set at P < 0.05