disease SNPs
The catalytic domain of protein kinases harbors a large number of disease-causing single nucleotide polymorphisms (SNPs) and common or neutral SNPs that are not known or hypothesized to be associated with any disease.
Distinguishing these two types of polymorphisms is critical in accurately predicting the causative role of SNPs in both candidate gene and genome-wide association studies.
References
Predicting functional regulatory polymorphisms. Torkamani A, Schork NJ. Bioinformatics. 2008 Aug 15;24(16):1787-92. PMID: #18562267#