By comparing the SNP patterns of a group with a disease to a healthy control group, researchers can pinpoint "hotspots" in the genome. These Genome-Wide Association Studies (GWAS) have helped identify risks for: Heart disease and hypertension. Type 2 diabetes. Cancers and autoimmune disorders.

While most SNPs have no direct effect on health, they serve as powerful tools for scientists to locate genes associated with complex diseases. 1. Disease Association

At its core, a SNP represents a single-letter swap in the genetic code. For example, in a specific stretch of DNA, most individuals might have the base , but a smaller portion of the population might have thymine (T) at that exact position. To be classified as a SNP, this variation must occur in at least 1% of the population.