ABSTRACT
Systematic sequencing of the genomic DNA of multiple individuals from different populations has produced detailed information of a high number of single nucleotide variations across the human genome (1, 2). The single nucleotide polymorphisms (SNPs) are excellent genetic markers; when compared to the repeat polymorphisms, SNPs are more stable and evenly distributed across the genome (3). Currently over 9 million SNPs in the human genome are deposited to various databases, such as NCBI, dbSNP, HGVBase and the SNP Consortium (4-6). However, despite the overwhelming amount of identified SNPs in databases, only a fraction of them have been carefully validated and their allele frequency information in various populations determined (7, 8). Table 8.1 presents some major SNP databases and validation efforts.
