Table 3. Association analysis of novel rare SNVs.
| Case | Control | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Exona | Ref | Val | Position (GRCh38) | Variant | Genotype countb | Minor allele frequency | P valuec | Genotype countb | Minor allele frequency |
| 5' side of 23 | C | G | 10:53959845 | c.3010-1G>C | 0/0/2085 | 0 | 1 | 0/0/1909 | 0 |
| 16 | C | T | 10:54090057 | p.D642N | 0/0/2087 | 0 | 1 | 0/0/1905 | 0 |
| 12 | A | G | 10:54185168 | p.V469A | 0/1/2091 | 0.00024 | 0.52 | 0/0/1908 | 0 |
| 8 | T | C | 10:54317306 | p.T281A | 0/0/2091 | 0 | 1 | 0/0/1911 | 0 |
| 7 | C | T | 10:54329645 | p.R219K | 0/0/2086 | 0 | 1 | 0/0/1915 | 0 |
| 4 | C | T | 10:54378920 | p.M60I | 0/2/2090 | 0.00048 | 0.19 | 0/5/1906 | 0.0013 |
Note: Ref, reference; Val, variant
a Based on ENST00000320301;
b homozygous for a minor allele / heterozygote / homozygous for a major allele;
C P values were calculated by one-tailed Fisher’s exact test