Rs61757781

Met174Val (A > G) mutation; unclear if pathogenic, it is included in the Alzheimer Disease & Frontotemporal Dementia Mutation Database.

Clinical manifestation : early onset Alzheimer's Disease

Early literature classified this as pathogenic, the latest ones cast some doubts.

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.