SNP

How it is used

Used in population genetics, GWAS, ancestry testing and genotyping arrays. Each SNP has an ID starting with 'rs', such as rs429358. Most researchers say 'snip', and the plural 'SNPs' is 'snips'. Rare single-base changes are usually called SNVs instead.

Example sentences

1. The genotyping array tests about 700,000 SNPs across the genome.

2. This SNP in the APOE gene is linked to the risk of Alzheimer's disease.

Common collocations

• SNP array
• SNP genotyping
• common SNP
• risk SNP
• tag SNP

Related terms

• variantA difference in a DNA sequence compared with a reference sequence. It is the neutral word used in clinical genetics, whether the change is harmful or harmless.
• point mutationA change of a single base in the DNA sequence, for example a G replaced by an A.
• GWASGenome-wide association study: a study that tests hundreds of thousands of genetic variants in many people to find which ones are more common in those with a particular trait or disease.
• nucleotideThe basic building block of DNA and RNA, made of a sugar, a phosphate group and one of four bases. Long chains of nucleotides form a DNA or RNA strand.
• alleleOne of the different versions of a gene that can exist at the same position on a chromosome. You inherit one allele of each gene from each parent.

More terms: Mutations and Genetic Variation

• mutation
• deletion
• frameshift mutation
• somatic mutation
• germline
• pathogenic
• copy number variation