Table 1 Tally of common (MAF > 0.05%) and rare protein-coding variants observed in the gnomAD ancestral groups
From: Diverse ancestral representation improves genetic intolerance metrics
Variant Type | AFR (n = 8128) | AMR (n = 17,296) | SAS (n = 15,308) | EAS (n = 9197) | ASJ (n = 5040) | NFE (n = 56,885) | FIN (n = 10,824) |
|---|---|---|---|---|---|---|---|
Common Missense | 141,538 | 105,985 | 103,281 | 93,436 | 81,093 | 79,200 | 70,438 |
Common PTVs | 6694 | 5451 | 5306 | 5321 | 4781 | 4447 | 4263 |
Common Synonymous | 115,737 | 84,509 | 78,068 | 66,795 | 60,801 | 59,348 | 50,748 |
Rare Missense | 652,095 | 949,110 | 1,038,844 | 619,444 | 103,944 | 2,384,930 | 212,055 |
Rare PTV | 49,241 | 74,192 | 79,637 | 48,861 | 11,469 | 219,425 | 22,077 |
Rare Synonymous | 345,648 | 491,853 | 536,568 | 317,486 | 50,053 | 1,143,528 | 99,547 |
