Rs63750812

rs63750812, also known as V148I or Val148Ile, is a SNP in the presenilin PSEN2 gene.

Inherited as an autosomal dominant, the rare rs63750812(A) allele is reported to be causative for early-onset Alzheimer's disease. However, the AlzForum also reports that "No change in proteolytic products PSEN2-CTF and PSEN2-NTF; no change in A&#946;42 levels or the A&#946;42/A&#946;40 ratio", and in combination with the original report, this allele may be more of a predisposing than causative mutation.