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Table 1 RBC trait loci with evidence of multiple independent signals among PAGE study participants

From: Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics

 

Signal

Chr:pos

Ref/Alt

CAFa

p values

Multi-ethnic RBC trait-specific

Combined phenotype by race/ethnicitya

AA

HL

EU

HCT

N = 67,885

HGB

N = 67,870

MCH

N = 41,317

MCHC

N = 67,856

MCV

N = 41,276

RBCC

N = 41,310

RDW

N = 33,549

AA

N = 16,802

HL

N = 20,697

EU

N = 29,513

HFE locus

 rs2032451

1

6:26092170

T/G

0.96

0.88

0.85

4.0E-16

1.4E-30

8.2E-38

1.8E-22

2.3E-27

0.01

3.4E-25

2.0E-4

2.3E-3

1.0E-11

 rs1800562

2

6:26093141

A/G

0.98

0.98

0.93

1.4E-4

2.4E-5

7.7E-30

3.1E-3

1.2E-3

0.78

0.05

1.0E-5

1.0E-10

1.0E-11

CCND3 locus

 rs1410492

1

6:41907855

C/G

0.94

0.86

0.75

0.24

0.21

1.0E-14

0.59

3.5E-19

1.5E-14

1.9E-6

0.04

1.4E-7

1.0E-11

 rs11964516

2

6:41860252

T/C

0.15

0.16

0.17

0.04

0.01

5.6E-13

0.12

3.0E-12

8.8E-4

0.03

0.02

1.6E-6

1.0E-11

HBS1L/MYB locus

 rs35786788

1

6:135419042

A/G

0.92

0.85

0.74

8.8E-20

7.0E-11

3.0E-66

6.2E-07

1.1E-59

3.3E-60

1.6E-16

8.0E-7

1.0E-11

1.0E-11

 rs12664956

2

6:135384188

T/C

0.22

0.26

0.37

2.6E-4

2.3E-3

1.1E-14

7.9E-3

2.4E-12

2.0E-9

0.52

0.03

8.1E-5

1.0E-6

CITED2 locus

 rs590856

1

6:139844429

A/G

0.63

0.41

0.45

1.2E-4

2.1E-4

7.7E-16

0.44

1.4E-23

2.2E-8

0.79

1.3E-4

1E-11

5.1E-7

 rs607203

2

6:139841653

T/C

0.79

0.93

0.96

0.02

0.04

7.9E-11

0.12

2.1E-13

8.8E-5

0.13

5.3E-3

6.2E-6

2.9E-7

ABO locus

 rs2519093

1

9:136141870

T/C

0.89

0.85

0.80

5.7E-16

8.7E-18

0.32

0.05

0.85

1.1E-7

0.09

2.1E-4

1.1E-8

1.0E-8

 rs10901252

2

9:136128000

C/G

0.84

0.93

0.92

0.02

3.4E-4

4.2E-5

5.5E-4

7.9E-8

8.0E-8

0.82

5.3E-5

2.4E-4

5.0E-6

HBA locus

 rs9924561

1

16:314780

G/T

0.91

0.99

–

1.4E-4

3.6E-26

5.8E-158

9.7E-87

2.4E-135

8.6E-49

4.9E-6

1.0E-11

–

–

 rs76613236

2

16:230724

C/G

0.98

0.995

–

0.79

0.03

6.2E-20

2.0E-5

3.0E-18

5.3E-14

2.7E-5

1.0E-11

–

–

 rs142154093

3

16:366048

C/G

0.98

0.99

–

0.02

4.0E-7

1.3E-32

2.2E-12

4.9E-33

6.5E-13

2.1E-5

1.0E-11

–

–

 rs186066503

4

16:405483

T/C

–

0.994

–

0.34

8.5E-3

3.6E-30

4.4E-18

2.8E-19

2.7E-15

3.5E-6

–

1.0E-11

–

 rs530159671

5

16:250184

A/G

–

0.991

0.997

4.5E-3

7.5E-8

1.7E-24

7.2E-12

2.0E-16

2.3E-7

2.2E-4

–

1.0E-11

–

 rs8058016

6

16:228786

A/C

0.99

0.992

–

2.2E-3

2.8E-5

1.8E-22

1.7E-5

3.5E-21

1.0E-4

8.0E-3

1E-11

2.6E-8

–

 rs60616598

7

16:297264

A/G

0.83

0.96

–

0.04

1.0E-5

8.1E-23

2.2E-11

1.8E-16

9.7E-9

2.3E-9

1.0E-11

2.8E-9

–

 rs145752042

8

16:267208

A/G

0.993

–

–

1.0E-4

2.4E-7

1.2E-18

1.2E-4

3.1E-19

3.0E-4

0.04

3.2E-10

–

–

 rs145546625

9

16:220583

T/C

0.98

0.93

–

0.19

0.08

2.5E-14

0.17

8.8E-15

1.4E-5

5.9E-3

0.22

1.0E-11

–

 rs115415087

10

16:205132

T/C

0.018

0.004

–

0.80

0.24

1.2E-12

1.2E-4

3.5E-14

3.2E-10

0.17

1.4E-10

1.3E-3

–

 rs61743947

11

16:240000

T/C

0.995

–

–

0.04

7.0E-5

2.4E-13

1.4E-11

8.7E-12

0.13

2.3E-6

3.1E-8

–

–

 rs60125383

12

16:176446

A/T

0.43

0.62

0.55

0.11

0.001

3.1E-13

2.1E-6

4.5E-8

1.3E-4

0.91

6.1E-7

0.01

2.0E-5

 rs55932218

13

16:221151

T/C

0.05

0.01

–

0.52

0.03

6.3E-10

1.2E-4

2.0E-8

2.1E-3

3.2E-5

5.0E-8

0.01

–

 rs8051004

14

16:198835

T/C

0.10

0.05

0.02

0.81

0.04

7.2E-11

3.2E-8

8.1E-8

0.06

0.04

0.01

5.1E-7

0.04

PLIN4/PLIN5 locus

 rs919797

1

19:4498157

A/G

0.68

0.49

0.46

5.1E-2

5.5E-4

1.9E-11

1.8E-5

6.5E-9

4.4E-1

8.8E-1

0.35

9.5E-3

1.1E-8

 rs12459922

2

19:4455862

A/G

0.12

0.25

0.26

0.003

0.003

4.3E-8

0.34

1.4E-9

0.09

0.11

0.17

4.9E-5

1.0E-4

  1. Bold font for combined-phenotype analysis indicates that the index SNP also had the lowest reported p-value for that particular trait. Variants not meeting effective heterozygosity criterion of 35 excluded. AA African American, HL Hispanic/Latino, EU European American. aRestricted to populations with > 1000 participants
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