Table 6.
SKAT-O results of rare variants: rare variants are defined as MAF < 0.01 or missing in gnomAD with an additional dataset MAF filter < 0.02.
| Gene | Locus | p value—WES | Variants tested | p value—WGS | Variants tested |
|---|---|---|---|---|---|
| ALG11 | chr13:52,012,398–52,033,600 | 9.66E−04 | 6 | 0.543 | 6 |
| CST4 | chr20:23,685,640–23,689,040 | 6.21E−04 | 8 | 0.815 | 5 |
| NOTCH4 | chr6:32,194,843–32,224,067 | 6.66E−04 | 9 | 0.031 | 10 |
| PODNL1 | chr19:13,933,957–13,953,302 | 7.86E−04 | 5 | 0.568 | 14 |
| RBM12 | chr20:35,648,925–35,664,900 | 9.04E−04 | 3 | 0.523 | 8 |
| RNF135 | chr17:30,971,039–30,999,911 | 9.14E−04 | 6 | 0.651 | 5 |
| RNF152 | chr18:61,808,067–61,893,007 | 5.06E−04 | 7 | 0.701 | 7 |
| SLIT3 | chr5:168,661,740–169,301,129 | 7.30E−04 | 23 | 0.484 | 23 |
| TRIM56 | chr7:101,085,481–101,097,967 | 4.73E−04 | 8 | 0.836 | 6 |
| VCX3A | chrX:6,533,618–6,535,118 | 9.07E−04 | 4 | 0.69 | 4 |
All genes were tested in the WES dataset; only the top-ranked genes (p < 0.001) were tested in the WGS dataset as a replication set.