paperKB
coga / coga-kb
Help
Sign in

Chunk #17 — Materials and methods — Predicting the effects of non-coding and coding SNPs and indels

Source
A promoter polymorphism in the Per3 gene is associated with alcohol and stress response.
Embedded
yes

Text

The non-coding SNPs (ncSNPs) impact score is the product of the functional element and mutation effect scores. The functional element score reflects how likely it is that the SNP is located in a functional region of the genome. The mutation score reflects the likelihood that the SNP affects the function of an overlapping element based on the evolutionary conservation of the position in alignments with other placental mammals. Thus, all ncSNPs and indels with non-zero impact scores have some evidence of functional relevance.