Genetic variations affecting lactase persistence and LM1
| Mutation associated with lactase persistence | Geographic region | SNP |
| LCT −13’910:T* | Northern Europe | rs4988235 |
| LCT −13’915:G | Middle East | rs41380347 |
| LCT −13’907:G | Ethiopia and Sudan | rs41525747 |
| LCT −14’009:G | Ethiopia and Sudan | rs820486563 |
| LCT −14’010:C | Kenya, Tanzania and South Africa | rs145946881 |
↵*This mutation is in strong linkage disequilibrium with the LCT −22’018-A mutation. Mechanistic evidence indicates that the −13’910 mutation is responsible for lactase persistence.
LM, lactose malabsorption; SNP, single nucleotide polymorphism.
Source: Adapted from Segurel and Bon 1