Table 1.
Risk allele frequency (defined as the allele associated with autism)
| Gene | SNP | Risk allele | Exploratory sample | Replication sample | ||
|---|---|---|---|---|---|---|
| Frequency | HWEa | Frequency | HWEa | |||
| MARK1 | rs12410279 | A | 0.85 | 0.26 | 0.83 | 1.00 |
| SLC25A12 | rs2292813 | C | 0.90 | 1.00 | NEb | NE |
| ATP2B2 | rs2278556 | A | 0.40 | 0.68 | 0.38 | 0.11 |
| PITX1 | rs6872664 | C | 0.89 | 1.00 | 0.85 | 0.32 |
| GRIK2 | rs2235076 | G | 0.98 | 1.00 | NE | NE |
| HOXA1 | rs10951154 | T | 0.86 | 0.02 | 0.86 | 1.00 |
| CNTNAP2 | rs7794745 | T | 0.40 | 0.73 | 0.39 | 0.04 |
| EN2 | rs1861972 | A | 0.73 | 0.68 | 0.76 | 0.90 |
| ITGB3 | rs5918 | T | 0.87 | 1.00 | 0.85 | 0.85 |
| JARID2 | rs7766973 | C | 0.60 | 0.22 | 0.58 | 0.76 |
aHardy-Weinberg Equilibrium (HWE) P value estimated with the exact test [65].
bNE, not estimated since not genotyped in the replication sample.
SNP, single nucleotide polymorphism.