A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

We describe a map of 1.42 million single nucleotide polymorphisms (SNPs) di stributed throughout the human genome, providing an average density on avai lable sequence of one SNP every 1.9 kilobases. These SNPs were primarily di scovered by two projects: The SNP Consortium and the analysis of clone over laps by the International Human Genome Sequencing Consortium. The map integ rates all publicly available SNPs with described genes and other genomic fe atures. We estimate that 60,000 SNPs fall within exon (coding and untransla ted regions), and 85% of exons are within 5 kb of the nearest SNP. Nucleoti de diversity varies greatly across the genome, in a manner broadly consiste nt with a standard population genetic model of human history. This high-den sity SNP map provides a public resource for defining haplotype variation ac ross the genome, and should help to identify biomedically important genes f or diagnosis and therapy.