Rs63750197

rs63750197, also known as S130L or Ser130Leu, is a SNP in the presenilin 2 PSEN2 gene.

Although based on small numbers of patients, the rare rs63750197(T) allele has been reported to be associated with both early-onset Alzheimer's disease and a form of dilated cardiomyopathy., However, the pathogenicity is considered "unclear", and the AlzForum summary states, "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."