TABLE 2.
The top 8 genes with genetic variants significantly enriched in ADEH+compared to ADEH−and NA (p < 0.001) revealed by the SKAT-O gene-based tests
| ADEH+ vs ADEH− |
ADEH+ vs NA |
ADEH− vs NA |
|||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| All missense/damaging |
Rare missense/damaging |
All missense/damaging |
Rare missense/damaging |
All missense/damaging |
Rare missense/damaging |
||||||||
| Gene | Chr | # SNVs | p-value | # SNVs | p-value | # SNVs | p-value | # SNVs | p-value | # SNVs | p-value | # SNVs | p-value |
| RBBP8NL | 20 | 4 | 0.0014 | 3 | 0.0014 | 3 | 0.0001 | 2 | 0.0001 | 5 | 0.3000 | 4 | 0.3000 |
| TRIM15 | 6 | 2 | 0.0003 | 2 | 0.0003 | 3 | 0.108 | 3 | 0.108 | 3 | 0.0435 | 3 | 0.0435 |
| CLEC7A | 12 | 3 | 0.158 | 2 | 0.537 | 2 | 0.0003 | 1 | 0.032 | 3 | 0.0305 | 2 | 0.1380 |
| SIDT2 | 11 | 4 | 0.0006 | 4 | 0.0006 | 3 | 0.0003 | 3 | 0.0003 | 5 | 0.7040 | 5 | 0.7040 |
| FRMD3 | 9 | 2 | 0.0034 | 2 | 0.0034 | 1 | 0.0005 | 1 | 0.0005 | 2 | 0.2400 | 2 | 0.2400 |
| TPSG1 | 16 | 3 | 0.129 | 2 | 0.101 | 3 | 0.0025 | 2 | 0.0007 | 3 | 0.0122 | 2 | 0.0044 |
| GSTZ1 | 14 | 3 | 0.0684 | 1 | 0.453 | 2 | 0.0007 | NA | NA | 3 | 0.1790 | 1 | 0.7410 |
| SP110 | 2 | 3 | 0.0009 | 3 | 0.0009 | 4 | 0.0043 | 4 | 0.0043 | 2 | 0.7020 | 2 | 0.7020 |