Table 4 Cardiomyopathy-associated variants in ESP and in control population

From: New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

    

ESP population

Control population

    

Genotype frequency (%)

Genotype frequency (%)

Gene

Amino acid

rs#

Disease association

African Americans

European Americans

Northern European

CSRP3

W4R

rs45550635

DCM

0.09

1.07

1.12

DSG2

V158G

—

ARVC

0.48

1.58

1.69

DSP

V30M

rs121912998

ARVC

0.00

0.37

0.94

MYBPC3

V896M

rs35078470

HCM

0.30

0.96

0.94

MYH6

A1004S

rs143978652

DCM

0.05

0.26

0.37

MYH7

M982T

rs145532615

HCM

0.14

0.44

0.56

PKP2

D26N

rs143004808

ARVC

0.19

1.37

0.94

  1. Abbreviations: ARVC, arrhythmogenic right ventricular cardiomyopathy; DCM, dilated cardiomyopathy; ESP, Exome Sequencing Project; HCM, hypertrophic cardiomyopathy.
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