Table 2 Unreported associations between the QRS variants and cardiovascular diseases

From: Sequence variants with large effects on cardiac electrophysiology and disease

Trait

Chr.

Pos. (hg38)

EA/OA

Locus

Comb. OR (95% CI)

Comb. P

P het

Ice OR

Ice P

Ice EAF (%)

UKB OR

UKB P

UKB EAF (%)

AVS

8

140,653,873

A/G

PTK2

0.92 (0.87, 0.96)

2.1 × 10−4

0.29

0.89

7.0 × 10−4

48

0.94

0.066

49.2

AF

12

120,230,731

A/G

PXN

0.82 (0.76, 0.88)

4.0 × 10−8

0.86

0.83

0.01

1.28

0.81

1.2 × 10−6

2.25

AF

6

22,570,808

G/A

HDGFL1

1.04 (1.02, 1.07)

1.2 × 10−4

0.97

1.04

0.023

23.1

1.04

0.002

27.3

AF

6

117,168,041

T/G

VGLL2

1.04 (1.02, 1.06)

1.8 × 10−4

0.15

1.02

0.29

38.6

1.05

1.1 × 10−4

38.9

AF

17

67,991,933

T/C

C17orf58*

1.04 (1.02, 1.06)

2.2 × 10−4

0.45

1.05

0.0046

24.9

1.03

0.013

27.8

AF

2

238,142,909

T/C

KLHL30

0.95 (0.92, 0.98)

5.7 × 10−4

0.66

0.95

0.082

9.89

0.94

0.0027

11.2

AF

5

154,492,281

G/C

HAND1

1.03 (1.01, 1.05)

7.9 × 10−4

0.46

1.02

0.15

35.9

1.04

0.0018

36.7

CAVB

2

178,905,448

A/C

CCDC141*

1.29 (1.17, 1.42)

3.6 × 10−7

0.56

1.26

3.3 × 10−4

15.3

1.33

2.6 × 10−4

13.8

CAVB

17

55,302,450

T/C

HLF

0.86 (0.79, 0.94)

7.8 × 10−4

0.14

0.91

0.094

25.7

0.8

0.0011

26.7

CAVB

6

118,400,465

A/G

CEP85L

1.13 (1.05, 1.22)

8.1 × 10−4

0.49

1.11

0.031

45.8

1.17

0.0079

55.3

CMCS

10

33,233,881

G/A

NRP1

1.30 (1.14, 1.50)

1.7 × 10−4

0.66

1.27

0.016

6.29

1.35

0.0035

7.8

CMCS

2

54,665,663

G/AS

SPTBN1

0.84 (0.77, 0.92)

2.0 × 10−4

0.45

0.87

0.023

26.5

0.81

0.0024

27.1

CAD

12

114,924,167

T/C

TBX3

1.03 (1.02, 1.05)

2.8 × 10−5

0.27

1.04

6.5 × 10−4

36.5

1.03

0.0078

39

CAD

1

170,662,622

T/C

PRRX1

1.03 (1.01, 1.04)

6.9 × 10−4

0.8

1.03

0.026

47.9

1.02

0.01

45.7

DCM

3

12,807,323

T/C

CAND2*

0.82 (0.74, 0.90)

3.9 × 10−5

0.87

0.81

0.013

32.7

0.82

0.001

33.7

DCM

8

124,847,575

A/C

ZNF572

0.82 (0.74, 0.90)

7.0 × 10−5

0.75

0.84

0.035

35.8

0.81

7.2 × 10−4

31

DCM

11

47,253,513

A/G

NR1H3

1.19 (1.08, 1.31)

3.1 × 10−4

0.99

1.19

0.03

31.8

1.19

0.0041

27.4

HF

17

55,302,450

T/C

HLF

0.95 (0.92, 0.97)

6.7 × 10−5

0.57

0.95

0.005

25.7

0.94

0.0039

26.7

HF

4

113,508,251

T/C

CAMK2D

1.04 (1.02, 1.07)

0.001

0.45

1.04

0.028

27

1.06

0.01

24.7

HT

8

140,653,873

A/G

PTK2

0.97 (0.96, 0.98)

1.1 × 10−6

0.47

0.97

0.0028

48

0.98

9.4 × 10−5

49.2

HT

12

56,720,316

A/G

NACA*

1.02 (1.01, 1.04)

1.7 × 10−4

0.95

1.02

0.075

22.7

1.02

9.4 × 10−4

27.3

HT

11

47,253,513

A/G

NR1H3

0.98 (0.97, 0.99)

2.7 × 10−4

0.47

0.99

0.25

31.8

0.98

4.1 × 10−4

27.4

HT

2

174,603,041

T/C

WIPF1

1.02 (1.01, 1.04)

4.6 × 10−4

0.12

1

0.78

22.3

1.03

1.3 × 10−4

20.6

HT

8

9,152,396

A/G

PPP1R3B

1.02 (1.01, 1.03)

6.3 × 10−4

0.89

1.02

0.13

26.8

1.02

0.0021

31.3

HT

8

11,932,112

T/G

DEFB136

0.96 (0.94, 0.98)

6.4 × 10−4

1

0.96

6.4 × 10−4

32.5

—

—

—

HCM

8

124,847,575

A/C

ZNF572

1.31 (1.14, 1.52)

2.1 × 10−4

0.23

1.24

0.018

35.8

1.5

0.002

31

IS

11

19,986,122

T/A

NAV2

1.07 (1.03, 1.11)

7.9 × 10−4

0.7

1.06

0.021

24.5

1.08

0.014

23.4

MI

7

128,856,555

T/C

FLNC*

0.42 (0.27, 0.66)

1.3 × 10−4

1

0.42

1.3 × 10−4

0.134

—

—

—

MI

2

36,454,050

A/G

CRIM1

1.03 (1.01, 1.05)

4.1 × 10−4

0.28

1.02

0.12

37.4

1.04

8.0 × 10−4

40.8

MI

18

36,652,647

T/C

FHOD3*

0.97 (0.95, 0.99)

0.001

0.84

0.96

0.019

30.1

0.97

0.021

28.6

PMI

2

178,905,448

A/C

CCDC141*

1.12 (1.06, 1.18)

5.9 × 10−5

0.91

1.12

0.0018

15.3

1.11

0.011

13.8

PMI

1

6,212,076

G/GA

RNF207

0.91 (0.86, 0.96)

6.2 × 10−4

1

0.91

6.2 × 10−4

36.5

—

—

—

PMI

4

113,508,251

T/C

CAMK2D

1.08 (1.03, 1.12)

8.7 × 10−4

0.08

1.11

2.5 × 10−4

27

1.03

0.38

24.7

PDA

5

65,470,971

A/G

ADAMTS6*

4.88 (1.90, 12.55)

0.001

1

4.88

0.001

0.245

—

—

—

PMC

12

114,943,342

T/C

TBX3

0.84 (0.75, 0.93)

9.7 × 10−4

1

0.84

9.7 × 10−4

34.8

—

—

—

SSS

4

113,508,251

T/C

CAMK2D

1.11 (1.05, 1.18)

1.2 × 10−4

0.76

1.11

4.7 × 10−4

27

1.14

0.1

24.7

SSS

2

178,905,448

A/C

CCDC141*

1.13 (1.06, 1.21)

2.1 × 10−4

0.22

1.15

9.6 × 10−5

15.3

1.01

0.89

13.8

SVT

1

111,987,808

G/A

KCND3

1.61 (1.38, 1.88)

2.7 × 10−9

0.79

1.57

1.7 × 10−4

2.21

1.64

3.7 × 10−6

1.38

SVT

1

170,662,622

T/C

PRRX1

1.11 (1.06, 1.17)

8.6 × 10−6

0.76

1.12

0.0047

47.9

1.11

5.6 × 10−4

45.7

SVT

1

115,749,108

C/T

CASQ2

0.92 (0.88, 0.96)

4.4 × 10−4

0.36

0.89

0.0052

43.1

0.93

0.02

44.6

SVT

2

178,856,319

A/G

CCDC141*

1.14 (1.06, 1.23)

7.9 × 10−4

0.36

1.09

0.18

11.7

1.17

0.0013

8.53

  1. We show results for 5% FDR, P ≤ 0.001. We denote coding variants with a star. EA effect allele, OA other allele; Phet P value for heterogeneity in the effect estimates between the Icelandic and UK Biobank data, EAF effect allele frequency, AVS aortic valve stenosis, AF atrial fibrillation, CAVB complete atrioventricular block, CMCS congenital malformations of cardiac septa, CAD coronary artery disease, DCM dilated cardiomyopathy, HF heart failure, HT hypertension, HCM hypertrophic cardiomyopathy, IS ischaemic stroke, MI myocardial infarction, PMI pacemaker insertion, PDA patent ductus arteriosus, PMC perimyocarditis, SSS sick sinus syndrome, SVT supraventricular tachycardia
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