||common in clinvar
||early-onset Alzheimer's disease? or just a benign variant?
rs63750110, also known as c.1316A>C, D439A or Asp439Ala, represent a very rare variant in the presenilin 2 PSEN2 gene.
Inherited as an autosomal dominant, the rare rs63750110(C) allele was reported in 2001/2002 as causative for early-onset Alzheimer's disease; see [PMID 11723295].
More recent studies (in 2015 and 2016) are casting doubt on the penetrance of this mutation. One publication ([PMID 25104557] feels that the D439A variant is likely to be a "rare, benign polymorphism", and another [PMID 25937274] sees it in a person not known to have Alzheimer's (however age at death was unknown).
Currently (2016), the AlzForum entry currently lists D439A as having "unclear pathogenicity" and ClinVar now lists this as having "uncertain significance", however, OMIM retains the "pathogenic" listing.