Table 2.
The Seven Prioritized Exome Variants in Family B
| Chromosome | Position | Ref | Alt | Gene | ExAC | A | U | P | AJexOR | AJexP |
|---|---|---|---|---|---|---|---|---|---|---|
| 15 | 45402883 | G | C | DUOX2 | 0.011 | 0.37 | 0.15 | 1.6 × 10-4 | 1.2 | .26 |
| 15 | 42281657 | C | T | PLA2G4E | 8.0 × 10-4 | 0.32 | 0.12 | 3.2 × 10-4 | 0.6 | .032 |
| 5 | 44809369 | C | T | MRPS30 | 0.011 | 0.29 | 0.15 | 8.2 × 10-3 | 1.1 | .84 |
| 16 | 50763778 | G | GC | NOD2 | 0.013 | 0.42 | 0.21 | 9.7 × 10-3 | 3.1 | 2.1 × 10-25 |
| 1 | 179660076 | T | TGAGG | TDRD5 | ND | 0.29 | 0.15 | .019 | 0.7 | .25 |
| 3 | 48414274 | C | T | FBXW12 | 0.014 | 0.32 | 0.14 | .020 | 1.1 | .50 |
| 1 | 117492067 | T | G | PTGFRN | 1.9 × 10-4 | 0.29 | 0.14 | .030 | 1.3 | .51 |
A, allele frequency in cases; AJexOR, replication odds ratio; AJexP, replication P value; Alt, alternative allele; ExAC, population allele frequency; P, LDAK P value; ND, no data available; Ref, reference allele; U, allele frequency in unaffected individuals.