Table 5 Single variant association tests of RCN3 coding variants in TOPMed Freeze 8 and UK Biobank

19:49534206_C/A

(rs1004941866)

Missense

TOPMed trans-ancestry

60,387

2.484 × 10⁻⁵

14.01

10.36

0.18

7.28

14.44

0.61

−4.12

7.44

0.58

19:49537166_C/A

(rs142564622)

Missense

TOPMed trans-ancestry

60,384

7.204 × 10⁻⁴

2.13

1.35

0.11

−1.29

1.77

0.47

−2.94

1.33

0.03

TOPMed EA

26,587

1.034 × 10⁻³

0.98

1.58

0.54

−2.79

2.08

0.18

−4.51

1.81

0.01

TOPMed AA

15,283

5.23 × 10⁻⁴

5.29

3.80

0.16

−0.72

4.82

0.88

−4.71

2.76

0.09

UKB European

386,813

1.72 × 10⁻⁴

1.61

1.18

0.17

1.07

1.61

0.51

−0.58

0.87

0.51

UKB African

6937

5.77 × 10⁻⁴

−3.77

4.58

0.41

−3.83

3.78

0.31

−8.02

6.61

0.23

19:49539182_G/T

(rs374733821)

Splice region

TOPMed trans-ancestry

60,385

1.076 × 10⁻⁴

−6.54

4.42

0.14

−4.58

5.26

0.38

0.31

2.71

0.91

19:49542553_C/T

(rs376990460)

Missense

TOPMed

60,387

7.452 × 10⁻⁵

− 4.64

5.92

0.43

−2.08

6.97

0.77

1.78

3.55

0.62

19:49542684_C/G

(rs34218348)

Missense

TOPMed trans-ancestry

60,386

5.539 × 10⁻³

0.25

0.52

0.64

−0.01

0.57

0.99

−0.64

0.40

0.11

TOPMed EA

26,590

3.761 × 10⁻⁵

−22.02

12.61

0.08

−17.23

15.85

0.28

2.91

12.49

0.82

TOPMed AA

15,283

0.02

0.14

0.60

0.81

−5.02

5.16

0.33

−3.45

2.80

0.22

UKB European

193,427

3.36 × 10⁻⁵

−1.90

3.77

0.61

−5.05

5.16

0.33

−3.46

2.80

0.22

UKB African

6937

0.016

−2.42

0.87

0.01

−1.97

0.72

0.01

−4.39

1.26

4.99 × 10^− 4

19:49542722_C/A

(rs146159696)

Missense

TOPMed trans-ancestry

60,386

0.010

0.05

0.34

0.88

−0.72

0.43

0.10

−1.28

0.323

1.00 × 10⁻⁴

TOPMed EA

26,590

0.013

0.11

0.41

0.78

−0.40

0.52

0.44

−1.28

0.47

6.04 × 10⁻³

TOPMed AA

15,282

3.50 × 10^− 3

0.20

1.41

0.88

−1.16

1.56

0.45

−1.62

0.92

0.08

UKB European

386,813

0.02

0.34

0.12

0.01

0.59

0.17

5.71 × 10⁻⁴

0.24

0.09

0.01

UKB African

6937

1.08 × 10⁻³

−0.20

3.36

0.95

−1.60

2.77

0.57

−1.92

4.84

0.69

19:49543160_AG/A

(rs770319784)

Frameshift

TOPMed trans-ancestry

60,385

3.643 × 10⁻⁴

2.85

2.42

0.24

1.93

2.84

0.50

−1.35

1.64

0.41

TOPMed AA

15,283

1.28 × 10⁻³

1.93

2.61

0.46

0.72

2.99

0.81

−2.11

1.75

0.23

UKB European

38,689

2.58 × 10⁻⁵

−10.44

9.62

0.28

−10.52

13.14

0.42

−2.37

7.137

0.74

UKB African

6937

1.80 × 10⁻³

−2.37

2.60

0.36

−4.56

2.14

0.03

−6.63

3.74

0.08