Table 3. Association analyses of missense variants.
| Genomic data | SCZ (n = 4145) | ASD (n = 381) | CON (n = 4432) | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Position | Ma/ma | MAF | Genotype countb | P valuec | MAF | Genotype countb | P valuec | MAF | Genotype countb |
| V18I | 13866157 | G/A | 0.004 | 0/32/4078 | 1 | 0.0014 | 0/1/365 | 0.94 | 0.0041 | 0/35/4371 |
| A590T | 13611737 | G/A | N/A | 0/0/4106 | 0.5 | N/A | 0/0/363 | 1 | 0.0002 | 0/2/4403 |
| G1040S | 13564120 | G/A | 0.0003 | 0/2/4108 | 1 | N/A | 0/0/363 | 1 | 0.0004 | 0/3/4394 |
| R1099H | 13563942 | G/A | 0.0001 | 0/1/4117 | 0.96 | N/A | 0/0/363 | 1 | 0.0005 | 0/4/4399 |
| K1292R | 13563363 | A/G | 0.0004 | 0/3/4108 | 0.11 | N/A | 0/0/363 | 1 | N/A | 0/0/4393 |
Abbreviations: SCZ, schizophrenia; ASD, autism spectrum disorders ; N/A, not applicable; MAF, minor allele frequency.
aM, major allele; m, minor allele.
bGenotype count; homozygote of major allele/heterozygote/homozygote of minor allele.
cP values were calculated by Fisher’s exact test (2 × 2 contingency table, two-tailed).