Table 2. The molecular nature of sequence variants and their affect on phenotypic variation.
QTL Pct Var |
Intergenic | Downstream | Exon | Intron | Upstream | Coding (detrimental) |
SNP | Structural variant |
Indel |
---|---|---|---|---|---|---|---|---|---|
All | 1.18** | 0.71 | 0.7 | 0.79 | 0.67 | 0.79 | 1.00 | 0.84 | 1.04 |
<4% | 1.21** | 0.67 | 0.67 | 0.75* | 0.63 | 0.74 | 0.99 | 0.69** | 1.07 |
>4% | 0.57** | 1.05 | 1.28 | 1.43* | 0.97 | 1.00 | 1.02 | 0.85 | 0.95 |
>10% | 0.65** | 1.32 | 1.59* | 1.69** | 1.32 | 2.13* | 0.88** | 1.69* | 1.48** |
The class of sequence variants and their position relative to genes influence the likelihood that they are functional, as predicted by a statistical method 44. The table shows the ratio of variants that score a maximum negative merge log(P-value) to those that do not within five different genomic regions: intergenic, exonic, intronic and either 2 kb upstream or downstream of the gene. Ratios are also shown for four molecular types: SNPs, structural variants, insertion/deletions (indels) polymorphisms and SNPs predicted to be detrimental to the coding sequence of a gene. The QTL data used for this analysis were derived from the heterogeneous stock mice24 generated from a cross between eight of the sequenced strains.
P < 0.05
P < 0.01.