Variant: rs63750886 

    present in Gene: PSEN1
    present in Chromosome: 14
    Position on Chromosome: 73198072
    Alleles of this Variant: C/G

rs63750886 in PSEN1 gene and Alzheimer disease, familial, type 3 PMID 12493737 2003 Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.

rs63750886 in PSEN1 gene and Paraparesis, Spastic PMID 12493737 2003 Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.