Table 2. Meta-analysis of gene-based (SKAT-O) tests.
| SetID | Gene | N of variants # | Description | Chr | band | p.value |
|---|---|---|---|---|---|---|
| (A) low frequency (MAF < 5%) variants (n = 16,585) | ||||||
| ENSG00000254245 | PCDHGA3 | 89 | protocadherin gamma subfamily A, 3 | 5 | q31.3 | 7.29E-07 |
| ENSG00000081853 | PCDHGA2 | 90 | protocadherin gamma subfamily A, 2 | 5 | q31.3 | 7.49E-07 |
| ENSG00000204956 | PCDHGA1 | 91 | protocadherin gamma subfamily A, 1 | 5 | q31.3 | 7.86E-07 |
| ENSG00000254221 | PCDHGB1 | 82 | protocadherin gamma subfamily B, 1 | 5 | q31.3 | 1.43E-06 |
| ENSG00000262576 | PCDHGA4 | 79 | protocadherin gamma subfamily A, 4 | 5 | q31.3 | 2.91E-06 |
| (B) High and Moderate low frequency (MAF < 5%) variants (n = 16,081) | ||||||
| ENSG00000254245 | PCDHGA3 | 83 | protocadherin gamma subfamily A, 3 | 5 | q31.3 | 2.59E-06 |
| ENSG00000081853 | PCDHGA2 | 84 | protocadherin gamma subfamily A, 2 | 5 | q31.3 | 2.79E-06 |
| ENSG00000204956 | PCDHGA1 | 85 | protocadherin gamma subfamily A, 1 | 5 | q31.3 | 2.96E-06 |
Top significant results for SKAT-O gene-based test for different subsets. We used Bonferroni correction to identify Exome-Wide level of significance for each of the subgroup separately. Only variants, which were observed in at least two independant studies, were included in the analysis. Genes with less than 2 variants per gene were exluded. Variants were defined High and Moderate accordind to classification adapted by SnpEff. # N of variants is based by the number of SNPs located within the genes and may vary by study, e.g. in case of monomorphic alleles.