Table 3.
1000 Genomes | ESP | NIH-UDP | Total | |
---|---|---|---|---|
GNE variant/total alleles2 | 10/2184 | 27/13006 | 4/1434 | 41/16624 |
GNE variant allele frequency | 1/218 | 1/482 | 1/360 | 1/406 |
Carrier rate (heterozygotes) | 1/109 | 1/241 | 1/180 | 1/203 |
Predicted Prevalence | 1/47710 | 1/232019 | 1/128522 | 1/164474 |
Affected per million | 21 | 4 | 8 | 6 |
Calculated according to the Hardy-Weinberg principle. See Supp. Tables S3 for details.
Total alleles containing GNE variants, not including the 3 common GNE SNPs (rs35224402/p.D239E, rs35638832/p.I454V, and rs121908627/p.V727L).