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. 2020 Oct 22;10:18051. doi: 10.1038/s41598-020-74650-4

Table 7.

SKAT-O results of ultra-rare variants: ultra-rare variants are defined as MAF < 0.001 in gnomAD without variants missing in gnomAD to test whether the well-defined ultra-rare variants are driving the top rare results.

Gene Locus p value—WES Variants tested p value—WGS Variants tested
ZNF318 chr6:43,336,070–43,369,647 8.07E−04 17 0.042 2

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.