Table 4. Cardiomyopathy-associated variants in ESP and in control population.
| 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 |
Abbreviations: ARVC, arrhythmogenic right ventricular cardiomyopathy; DCM, dilated cardiomyopathy; ESP, Exome Sequencing Project; HCM, hypertrophic cardiomyopathy.