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. Author manuscript; available in PMC: 2012 Mar 15.
Published in final edited form as: Nature. 2011 Sep 14;477(7364):289–294. doi: 10.1038/nature10413

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.