rs63751039, APP

N. diseases: 8
Disease: Amyloidosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.010 GeneticVariation BEFREE The Arctic mutation (p.E693G/p.E22G)fs within the β-amyloid (Aβ) region of the β-amyloid precursor protein gene causes an autosomal dominant disease with clinical picture of typical Alzheimer's disease. 24252272 2013