APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: Plaque, Amyloid ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2936349
Disease:
Plaque, Amyloid 		0.010 GeneticVariation BEFREE The APP(E693Q) mice did not develop amyloid plaques at any age studied, up to 30 months. 20641005 2010
dbSNP: rs753737986
rs753737986
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2936349
Disease:
Plaque, Amyloid 		0.010 GeneticVariation BEFREE We have generated lines of transgenic mice expressing either wild-type human cystatin C or the Leu68Gln variant that forms amyloid deposits in the cerebral vessels of Icelandic patients with hereditary cerebral hemorrhage, under control sequences of the human cystatin C gene. 14742906 2004