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Table 2 Variant Filtration Steps of sequencing and results of gene-based analysis

From: Rare RNF213 variants and the risk of intracranial artery stenosis/occlusion disease in Chinese population: a case-control study

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

  1. aSNVs Single Nucleotide Variants