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. 2020 May 6;52:22. doi: 10.1186/s12711-020-00542-w

Table 2.

Classification and total number of variants (SNVs + INDELs) in each vQTL region

Region OCU3 OCU7 OCU10 OCU14 Total
Upstream 141 21 34 328 524
5′UTR 2 0 5 0 7
Synonymous 9 2 10 34 55
Missense 1 0 6 28 35
Frameshift 0 0 0 4 4
Splicing 4 0 1 9 14
Intron 2019 267 1622 3145 7053
3′UTR 28 0 3 39 70
Downstream 193 34 57 486 770
Intergenic 3961 112 2237 3887 10,197
Total 18,729