Table 1.
Number of Exome Array Variants Available for Analysis by Variant Type
| Variant Type | All Polymorphic Sites | MAF < 0.1% | MAF 0.1%–5% | MAF > 5% |
|---|---|---|---|---|
| 42,208 European Ancestry Samples | ||||
| Nonsynonymous | 175,444 | 130,553 | 32,501 | 12,390 |
| Nonsense/splice | 13,036 | 10,694 | 1,686 | 656 |
| Synonymous | 5,444 | 3,710 | 978 | 756 |
| Intronic/Intergenic | 14,205 | 139 | 1,186 | 12,880 |
| Other | 1,627 | 156 | 199 | 1,272 |
| 14,330 African Ancestry Samples | ||||
| Nonsynonymous | 169,140 | 91,083 | 61,809 | 16,248 |
| Nonsense/splice | 11,768 | 7,729 | 3,177 | 862 |
| Synonymous | 5,398 | 2,341 | 2,098 | 959 |
| Intronic/Intergenic | 14,169 | 56 | 650 | 13,463 |
| Other | 1,780 | 116 | 356 | 1,308 |
Variant type was determined based on dbNSFP v.2.0 annotations. Abbreviation is as follows: MAF, minor allele frequency. Other category includes variants labeled as downstream (n = 187), ncRNA_exonic (n = 111), ncRNA_intronic (n = 447), ncRNA_splicing (n = 1), ncRNA_UTR3 (n = 8), _UTR5 (n = 1), upstream (n = 181), upstream;downstream (n = 8), UTR3 (n = 518), UTR5 (n = 77).