APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: Hereditary Cerebral Amyloid Angiopathy, Icelandic Type ×
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: rs753737986
rs753737986 		0.925 0.200 21 26111983 missense variant T/A snv 4.0E-06
CUI: C1527338
Disease: Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2007 2007