Table 1 Associations between the QRS variants and echocardiographic traits

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

Trait

Variant

Chr.

Pos. (hg38)

EA/OA

EAF (%)

Locus

Annotation

Top QRS parameter

Effect (s.d.)

P

ARD

rs11874

17

46,939,827

A/G

12.9

GOSR2

3′ UTR

S dur., V4

0.11

8.0 × 10−9

ARD

rs7543039

1

99,584,092

C/T

48.8

PALMD

Intergenic

S amp., V4

−0.064

1.5 × 10−8

ARD

rs2687938

13

50,180,110

T/C

45.6

DLEU1

Intergenic

QRS area, V4

0.057

4.6 × 10−7

ARD

rs335196

5

123,184,837

A/G

43

PRDM6

Intronic

QRS area, I

−0.055

1.8 × 10−6

ARD

rs34766086*

2

40,512,632

T/G

5.67

SLC8A1

Upstream

R dur., V5

−0.085

7.1 × 10−4

EF

rs2234962

10

119,670,121

C/T

24.2

BAG3

Missense

R amp., V1

0.051

1.7 × 10−4

EF

rs72692220*

1

50,974,791

A/G

3.15

CDKN2C

Downstream

Mean QRS dur.

−0.13

1.8 × 10−4

EF

rs35006907

8

124,847,575

A/C

35.8

ZNF572

Intergenic

R amp., V1

0.042

6.0 × 10−4

LVEDD

rs2234962

10

119,670,121

C/T

24.2

BAG3

Missense

R amp., V1

−0.099

1.8 × 10−13

LVEDD

rs397516082

11

47,346,372

C/T

0.175

MYBPC3

Splice acceptor

R dur., V4

−0.57

2.3 × 10−9

LVEDD

rs35006907

8

124,847,575

A/C

35.8

ZNF572

Intergenic

R amp., V1

−0.058

9.7 × 10−7

LVEDD

rs4794562*

17

55,302,450

T/C

25.7

HLF

Intronic

QRS dur., V3

−0.06

5.3 × 10−6

LVEDD

rs17305149*

3

14,235,797

G/A

18.5

LSM3

Intergenic

R dur., V5

0.064

1.8 × 10−5

LVEDD

rs72692220*

1

50,974,791

A/G

3.15

CDKN2C

Downstream

Mean QRS dur.

0.14

4.0 × 10−5

LVEDD

rs16866538

2

178,795,185

A/G

4.93

TTN

Missense

S amp., V1

−0.098

2.3 × 10−4

LVEDD

rs143158900*

10

112,746,619

CA/C

17.6

VTI1A

Intronic

QRS p-2-p, I

0.055

2.6 × 10−4

LVEDD

rs147436240

6

36,680,287

C/CGCGT

17.2

CDKN1A

Intronic

Mean QRS dur.

−0.055

3.9 × 10−4

LVEDD

rs9909004*

17

66,310,015

C/T

38.6

PRKCA

Intronic

QRS dur., V3

0.041

5.5 × 10−4

LVESD

rs1461990*

8

107,075,400

G/C

47.5

ANGPT1

Intergenic

Q amp., V6

0.07

5.8 × 10−4

LVPWT

rs397516082

11

47,346,372

C/T

0.175

MYBPC3

Splice acceptor

R dur., V4

0.62

4.9 × 10−11

IVST

rs397516082

11

47,346,372

C/T

0.175

MYBPC3

Splice acceptor

R dur., V4

1.2

1.5 × 10−37

IVST

rs4284441*

12

114,924,167

T/C

36.5

TBX3

Intergenic

QRS area, V6

0.047

7.2 × 10−5

IVST

rs7301677*

12

114,943,342

T/C

34.8

TBX3

Intergenic

VAT, V6

−0.041

5.7 × 10−4

  1. We only show results for 5% FDR, P ≤ 7.1 × 10−4. We denote unreported associations with a star. EA effect allele, OA other allele, EAF effect allele frequency, s.d. standard deviation, Dur. duration, Amp. amplitude, ARD aortic root diameter (N = 19,513), EF ejection fraction (N = 17,109), LVEDD left ventricular end-diastolic dimension (N = 18,487), LVESD left ventricular end-systolic dimension (N = 5704), LVPWT left ventricular posterior wall thickness (N = 18,626), IVST interventricular septum thickness (N = 18,775)
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