Exploring the Distribution of Single Nucleotide Polymorphisms Across Human Exons and Introns

Abstract

Among all types of mutations, single nucleotide polymorphisms are the most common type of genomic variation. In our study, we explore the counts of single nucleotide polymorphisms in particular exons and introns of the human genome based on the data set of 1,222 individuals of Polish origin that comprises 41,836,187 polymorphisms. In particular, chromosomes 1 and 22 were considered as representatives of two markedly different DNA molecules, since HSA01 represents the longest and HSA22 is one of the shortest chromosomes. The results demonstrate that outer (first, last) exons as well as the first introns harbour significantly more SNPs than other genic regions. The observed differences in counts reflect the distinct functional roles of those genomic units.