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Table 1 Locus reported for AVB and LBBB in the meta-analysis of UK Biobank and FinnGene GWAS datasets

From: Genetic insights into cardiac conduction disorders from genome-wide association studies

SNP

CHR

POS

EA

NEA

EAF

N

BETA

SE

p value

Nearest gene

Consequence

PhyloP score

CADD scaled score

AVB

 rs185591978

2

178,488,129

A

G

0.94

349,625

− 0.03

0.005

2.60 × 10−9

PLEKHA3

intron

− 0.096

2.01

 rs13031826

2

178,891,875

A

T

0.88

732,669

− 0.02

0.003

1.19 × 10−12

TTN

intron

0.166

1.314

 rs10936712

3

172,084,486

T

C

0.69

349,625

− 0.01

0.003

1.48 × 10−8

FNDC3B

intron

− 1.75

0.353

 rs56065557

3

185,636,428

C

G

0.70

732,669

− 0.01

0.002

8.35 × 10−9

SENP2

intergenic

− 1.28

0.382

 rs7433306

3

38,729,148

C

G

0.57

732,669

0.01

0.002

1.45 × 10−10

SCN10A

intron

− 0.547

0.482

 rs199561133

4

110,760,807

T

G

0.86

349,625

− 0.02

0.003

2.59 × 10−8

RRH

intergenic

0.056

4.358

 rs2932971

4

23,817,261

T

C

0.71

732,669

0.01

0.002

1.89 × 10−10

PPARGC1A

intron

5.0

19.45

 rs76734697

5

137,897,780

T

G

0.81

732,669

0.01

0.002

2.73 × 10−9

PKD2L2

intron

− 1.64

0.261

 rs6556061

5

173,218,944

A

T

0.72

349,625

− 0.02

0.003

2.62 × 10−9

NKX2-5

intergenic

− 2.68

0.103

 rs11764098

7

35,466,100

C

G

0.97

732,669

− 0.04

0.005

2.52 × 10−13

TBX20

intergenic

2.27

18.17

LBBB

 rs1472095

4

23,816,454

T

C

0.71

727,785

0.010

0.002

3.35 × 10−8

PPARGC1A

intron

− 0.718

0.789

 rs13185595

5

154,492,610

A

G

0.63

727,785

− 0.012

0.002

5.55 × 10−13

HAND1

intergenic

− 0.514

4.449

 rs61931006

12

114,414,703

A

C

0.90

727,785

0.018

0.003

4.10 × 10−11

TBX5

intergenic

− 1.11

0.872

 rs9636578

21

27,538,384

A

G

0.52

727,785

− 0.009

0.002

4.02 × 10−8

ADAMTS5

intergenic

0.429

3.936

  1. Findings were identified using fixed effects inverse-variance weighted meta-analysis. The chromosomal position is based on GRCh38 reference. Gene names are italicized. Novel locus (i.e., distance > 500 kB from previous locus) are shown in bold
  2. CHR chromosome, POS base pair location, NEA non-effect allele, EA effect allele, EAF effect allele frequency, SE standard error, GERP Genomic Evolutionary Rate Profiling, CADD Combined Annotation Dependent Depletion