Table 4. The transition/transversion (Ts/Tv) ratio by SNP consequence.
Consequence | N |
Ts/Tv
|
|||
---|---|---|---|---|---|
Iceland | Tennessen et al. 5 | Stubbs et al. 26 | Impact | ||
The Icelandic ratios are based on the SNPs found in the 2,636 whole-genome sequenced Icelanders and compared to previously reported ratios5,26. |
|||||
splice acceptor | 539 | 1.59 | 1.69 | 2.42 | LoF |
splice donor | 783 | 1.86 | 2.81 | LoF | |
stop gained | 2,269 | 2.15 | 2.13 | 1.93 | LoF |
stop lost | 100 | 0.89 | LoF | ||
initiator codon | 269 | 2.16 | LoF | ||
missense | 108,568 | 2.36 | 2.31 | 2.14 | MODERATE |
splice region | 14,107 | 2.90 | MODERATE | ||
synonymous | 71,215 | 5.42 | 5.60 | 5.20 | LOW |
stop retained | 68 | Inf* | LOW | ||
3′UTR | 164,852 | 2.39 | 2.15 | LOW | |
5′UTR | 32,275 | 1.72 | LOW | ||
intronic | 7,299,496 | 2.29 | 2.22 | OTHER | |
downstream of gene | 422,534 | 2.33 | OTHER | ||
upstream of gene | 493,094 | 2.12 | OTHER | ||
Other intergenic | 10,950,712 | 2.13 | 2.07 | OTHER |
*The Ts/Tv ratio is infinite for the stop retained class by definition. Table reproduced from Supplementary Table 4 of ref. 13.