single nucleotide polymorphism (SNP); single nucleotide variation (SNV)

Genetics: - variability of a single nucleotide within a gene in a population - the human genome contains about 10 million single nucleotide polymorphisms (SNPs) - the HapMap is a mapping of such SNPs Notes: - morbidmap is a compilation of diseases associated with gene loci - SNP data are associated with these gene loci (see morbidmap)

References

- Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, Donnelly P; International HapMap Consortium. A haplotype map of the human genome. Nature. 2005 Oct 27;437(7063):1299-320. PMID: 16255080 - Goldstein DB, Cavalleri GL. Genomics: understanding human diversity. Nature. 2005 Oct 27;437(7063):1241-2. No abstract available. PMID: 16251937