Table 1

Number of SNPs by annotation class and genome region: autosomes, X chromosome non-pseudoautosomal region (NPAR) and X pseudoautosomal region (PAR)
Consequence Autosomes Guadyerbas Autosomes Iberian pool NPAR Guadyerbas NPAR Iberian pool PAR Guadyerbas PAR Iberian pool
Essential splice site 30 30 1 1 0 0
Stop gained 44 11 2 0 0 0
Stop gained,splice site 1 0 0 0 0 0
Stop lost 4 15 0 0 0 0
Non synonymous coding 2650 1222 40 28 1 0
Non synonymous coding,splice site 51 31 0 1 0 0
Synonymous coding,splice site 49 24 3 0 0 0
Splice site,intronic 282 254 10 8 0 1
5prime utr,splice site 1 1 0 0 0 0
3prime utr,splice site 2 0 0 0 0 0
Within non coding gene,splice site 7 1 0 0 0 0
Synonymous coding 2676 1611 33 34 0 1
Coding unknown 8 4 0 0 0 0
Within mature mirna 1 1 0 2 0 0
5prime utr 193 418 0 7 0 0
3prime utr 2103 1357 23 19 0 0
Intronic 148468 78279 1867 1204 133 147
Within non coding gene 286 99 12 3 0 0
Within non coding gene,intronic 6 3 0 0 0 0
Upstream 34314 15216 426 346 20 16
Downstream 34395 15737 628 346 24 14
Intergenic 433720 150572 7161 3620 3087 1214
Total 659291 264886 10206 5619 3265 1393

Annotation terms shown are in decreasing order of severity, as estimated by Ensembl.

Esteve-Codina et al.

Esteve-Codina et al. BMC Genomics 2013 14:148   doi:10.1186/1471-2164-14-148

Open Data