Table 2.
Counts and characteristics of 653 single nucleotide variants identified by deep sequencing at five genes at the chromosome 11p11.2 locus in the CHARGE Targeted Sequencing Study
| ACP2 | NR1H3 | MADD | MYBPC3 | SPI1 | Total | |
|---|---|---|---|---|---|---|
|
| ||||||
| Total | 42 (9) | 53 (13) | 226 (45) | 57 (10) | 159 (39) | 537 (116) |
| Coding | 3 (0) | 5 (0) | 17 (4) | 4 (1) | 0 (0) | 29 (5) |
| Novel | 41 (4) | 53 (5) | 220 (10) | 53 (0) | 155 (12) | 522 (31) |
|
Predicted Function
(RegulomeDB Prediction scores 1-3) |
11 (4) | 7 (3) | 26 (19) | 0 (9) | 17 (19) | 61 (54) |
Counts above include common (MAF ≥ 1%) variants in parentheses and rare (MAF < 1%) variants.