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. 2023 Jun 2;24:298. doi: 10.1186/s12864-023-09405-2

Table 2.

Summary and annotation of SNPs on a population-scale

a b
Category                     Number of SNPs Category Angara New Zealand Rex Total
Total 24,831,754 Sample size n = 6 n = 6 n = 6 n = 18
Upstream 156,603 Number of total SNPs 15,622,108 16,948,460 16,539,048 24,831,754
Exonic Stop gain 607 Number of shared SNPs                                                           12,234,559
Stop loss 64
Synonymous 103,686
Nonsynonymous 57,721

‘Upstream’ refers to a variant that overlaps with the 1 kb region upstream of the gene start site

‘Stop gain’ means that a nsSNP leads to the creation of a stop codon at the variant site

‘Stop loss’ means that a nsSNP leads to the elimination of a stop codon at the variant site

‘Splicing’ means that a variant is within 2 bp of a splice junction

‘Downstream’ means that a variant overlaps with the 1 kb region downstream of the gene end site

‘Upstream/Downstream’ means that a variant is located in downstream and upstream regions

(possibly for two different genes)

Intronic 6,751,084
Splicing 670
Downstream 148,646
Upstream/downstream 1729
Intergenic 17,610,944