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  2. Single-nucleotide polymorphism - Wikipedia

    en.wikipedia.org/wiki/Single-nucleotide_polymorphism

    For example, two common SNPs in the APOE gene, rs429358 and rs7412, lead to three major APO-E alleles with different associated risks for development of Alzheimer's disease and age at onset of the disease. [7] Single nucleotide substitutions with an allele frequency of less than 1% are sometimes called single-nucleotide variants (SNVs). [8] "

  3. Gene polymorphism - Wikipedia

    en.wikipedia.org/wiki/Gene_polymorphism

    A polymorphism can be any sequence difference. Examples include: Single nucleotide polymorphisms (SNPs) are a single nucleotide changes that happen in the genome in a particular location. The single nucleotide polymorphism is the most common form of genetic variation. [15]

  4. 5-HTTLPR - Wikipedia

    en.wikipedia.org/wiki/5-HTTLPR

    Researchers commonly report it with two variations in humans: A short ("s") and a long ("l"), but it can be subdivided further. [4] The short (s)- and long (l)- alleles have been thought to be related to stress and psychiatric disorders. [5] In connection with the region are two single nucleotide polymorphisms (SNP): rs25531 and rs25532. [6]

  5. SNP array - Wikipedia

    en.wikipedia.org/wiki/SNP_array

    A single nucleotide polymorphism (SNP), a variation at a single site in DNA, is the most frequent type of variation in the genome. Around 335 million SNPs have been identified in the human genome , [ 1 ] 15 million of which are present at frequencies of 1% or higher across different populations worldwide.

  6. Human genetic variation - Wikipedia

    en.wikipedia.org/wiki/Human_genetic_variation

    A single nucleotide polymorphism (SNP) is a difference in a single nucleotide between members of one species that occurs in at least 1% of the population. The 2,504 individuals characterized by the 1000 Genomes Project had 84.7 million SNPs among them. [ 2 ]

  7. SNP genotyping - Wikipedia

    en.wikipedia.org/wiki/SNP_genotyping

    SNP genotyping is the measurement of genetic variations of single nucleotide polymorphisms (SNPs) between members of a species. It is a form of genotyping, which is the measurement of more general genetic variation. SNPs are one of the most common types of genetic variation.

  8. Genetic marker - Wikipedia

    en.wikipedia.org/wiki/Genetic_marker

    It can be described as a variation (which may arise due to mutation or alteration in the genomic loci) that can be observed. A genetic marker may be a short DNA sequence, such as a sequence surrounding a single base-pair change (single nucleotide polymorphism, SNP), or a long one, like minisatellites.

  9. Structural variation in the human genome - Wikipedia

    en.wikipedia.org/wiki/Structural_variation_in...

    The study concluded that twelve percent of the genome contained CNVRs. They were found to be involved in more of the DNA in each genome than single nucleotide polymorphisms. [6] This was a remarkable discovery since single nucleotide polymorphisms have been known to be the greatest in number in the human genome.