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. 2018 Jun 4;14:1176934318775106. doi: 10.1177/1176934318775106

Table 2.

Summary of single-nucleotide polymorphisms in horses.

Category Count Percentage Note
Sample size N = 48 “Splice_region” means that a variant is within 2 bp of a splice junction. “Splice_acceptor” means that the variant hits a splice acceptor site (defined as 2 bases before the exon start site, except for the first exon). “Splice_donor” means that the variant hits a splice donor site (defined as 2 bases after the end of the coding exon, except for the last exon). “Upstream/downstream” means that a variant overlaps with the 1-kb region upstream/downstream of the gene end site. The number of effects is larger than the number of SNPs because a variant can be annotated for 2 or more effects.
SNP 15 341 213
3_prime_UTR 172 656 0.46
5_prime_UTR 46 446 0.13
Downstream 2 488 567 6.70
Intergenic_region 10 032 903 27.02
Intragenic 794 0.00
Intron 10 441 311 28.12
Missense 103 427 0.28
Non_coding_transcript_exon 96 876 0.26
Non_coding_transcript 10 793 318 29.07
Splice_acceptor 384 0.00
Splice_donor 577 0.00
Splice_region 25 231 0.07
Start_lost 283 0.00
Stop_gained 1054 0.00
Stop_lost 224 0.00
Stop_retained 82 0.00
Synonymous 129 097 0.35
Upstream 2 474 202 6.66
Exon 327 360 0.88
No. of effects 37 134 791 100