Table 4 Summary of the SNPs effect prediction in 55K array
Item | Count | Percent (%) |
|---|---|---|
Total number of SNPs in the panel | 52,184 | Â |
Annotation possible | 52,108 | 99.85 |
intergenic variant | 16,106 | 30.86 |
intron variant | 25,275 | 48.43 |
intron variant & noncoding transcript variant | 3981 | 7.63 |
missense variant | 590 | 1.13 |
missense variant & splice region variant | 13 | 0.02 |
synonymous variant | 1601 | 3.07 |
Splicing | 187 | 0.36 |
start/stop gained/lost/retained | 12 | 0.02 |
3 prime UTR variant | 1358 | 2.60 |
5 prime UTR variant | 229 | 0.44 |
upstream gene variant (1 kb) | 871 | 1.67 |
downstream gene variant (1 kb) | 1014 | 1.94 |
noncoding transcript exon variant | 871 | 1.67 |