Table 1.
Allele frequencies of the identified mutations in different population studies.
| Study | Population | Group |
Sample size (allele number) |
Ref allele (allele number) |
Alt allele (allele number) |
|---|---|---|---|---|---|
| rs184950120 (MKRN3:g.+13C>T) | |||||
| TopMed | Global | Study-wide | 125,568 |
C = 0.99710 (125,205) |
T = 0.00289 (363) |
| gnomAD—Genomes | Global | Study-wide | 30,942 |
C = 0.9948 (30,780) |
T = 0.0052 (162) |
| 1000Genomes | Global | Study-wide | 5,008 |
C = 0.998 (4,999) |
T = 0.002 (9) |
| rs188505875 (MKRN3:g.-166G>A) | |||||
| gnomAD—Genomes | Global | Study-wide | 30,803 |
G = 0.993 (30,577) |
A = 0.007 (226) |
| 1000Genomes | Global | Study-wide | 5,008 |
G = 0.999 (5,001) |
A = 0.001 (7) |
| rs139233681 (MKRN3:g.-865G>A) | |||||
| TopMed | Global | Study-wide | 125,568 |
G = 0.99501 (124,942) |
A = 0.00499 (626) |
| gnomAD - Genomes | Global | Study-wide | 30,976 |
G = 0.9951 (30,825) |
A = 0.0049 (151) |
| 1000Genomes | Global | Study-wide | 5,008 |
G = 0.992 (4,969) |
A = 0.008 (39) |
| rs74005577 (MKRN3:g.-886C>T) | |||||
| TopMed | Global | Study-wide | 125,568 |
C = 0.99314 (124,707) |
T = 0.00686 (861) |
| gnomAD—Genomes | Global | Study-wide | 30,972 |
C = 0.9943 (30,797) |
T = 0.0057 (175) |
| 1000Genomes | Global | Study-wide | 5,008 |
C = 0.994 (4977) |
T = 0.006 (31) |