Major vs. Reference Allele

Scientists have used the DNA of several anonymous volunteers to create what is known as the reference genome.

The reference allele is the base found at a specific spot in this genome. A different base at that spot is called the alternative allele.

Reference allele is not the same as the major allele. The more common allele is  “major” while the less common one is “minor”. 

Either the reference or the alternative allele can be major, depending on which one is more common.

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