APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: Down Syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs63750264
rs63750264 		0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2007 2007