APOE, apolipoprotein E, 348

N. diseases: 1049; N. variants: 62
Disease: Hyperlipoproteinemia Type IIa ×
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: rs769452
rs769452 		0.925 0.160 19 44907853 missense variant T/C snv 2.5E-03 1.9E-03
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2013 2016