Table 1.
Variants and individual frequencies seen in the 1000 Genomes Project Data. Absent data from the exome chip columns due to incomplete sequencing coverage in those individuals. Frequencies represent frequency of individuals with at least one copy of the variant and not allele frequencies.
| Gene | Disease | rsID | 4× Genome (1,092 indv.) | Freq. | Exome Chip (2,123 indv.) | Freq. |
|---|---|---|---|---|---|---|
| APC | Familial adenomatous polyposis | rs137854567 | 2 | 0.002 | - | - |
| rs1801166 | 8 | 0.007 | - | - | ||
| DSP | Arrhythmogenic right-ventricular cardiomyopathy | rs121912998 | 4 | 0.004 | - | - |
| LMNA | Hypertrophic cardiomyopathy, dilated cardiomyopathy | rs57830985 | 1 | 0.001 | - | - |
| MSH6 | Lynch syndrome | rs2020912 | 11 | 0.010 | 13 | 0.006 |
| SCN5A | Romano–Ward long QT syndrome types 1, 2, and 3, Brugada syndrome | rs1805124 | 450 | 0.412 | 852 | 0.401 |
| rs41261344 | 26 | 0.024 | 72 | 0.034 | ||
| rs45620037 | 1 | 0.001 | - | - | ||
| rs7626962 | 26 | 0.024 | 65 | 0.031 | ||
| SDHB | Hereditary paraganglioma–pheochromocytoma syndrome | rs11203289 | 19 | 0.017 | - | - |
| rs33927012 | 17 | 0.016 | 30 | 0.014 | ||
| SDHD | Hereditary paraganglioma–pheochromocytoma syndrome | rs11214077 | 20 | 0.018 | - | - |
| rs34677591 | 13 | 0.012 | - | - | ||
| STK11 | Peutz–Jeghers syndrome | rs59912467 | 28 | 0.026 | 61 | 0.029 |
| TP53 | Li–Fraumeni syndrome | rs28934576 | 1 | 0.001 | - | - |
| TSC1 | Tuberous sclerosis complex | rs118203576 | 48 | 0.044 | - | - |
| rs118203657 | 5 | 0.005 | - | - |