Table 2.
Filtration Steps | Number of variants | ||
---|---|---|---|
1.SNVsa located in exonic/ splicing region | 188 | ||
2. Nonsynonymous SNVs/ frameshift deletion/ stopgain | 125 | ||
3. Variants judged as SIFT prediction = Damaging / unknown and PolyPhen-2 prediction = Possibly damaging/ Probably damaging/ Unknown | 71 | ||
4. MAF < 0.05 in 1KGP(Chinese Han population) and GeneSky in-house Database | 42 | ||
5.Variants with sequenced base depth > 10x | 18 | ||
Result of RNF213 gene-based analysis | |||
MAF | PWSS | PSKAT | PSKAT-O |
< 0.05 | 4.88 × 10−10 | 9.68 × 10−6 | 3.42 × 10−9 |
< 0.01 | 4.56 × 10−12 | 2.80 × 10−6 | 3.20 × 10−11 |
aSNVs Single Nucleotide Variants