APOA5, apolipoprotein A5, 116519

N. diseases: 107; N. variants: 22
Disease: Hyperlipoproteinemia Type V ×
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: rs121917821
rs121917821 		0.925 0.080 11 116790814 stop gained G/A snv 4.0E-06
CUI: C0020481
Disease: Hyperlipoproteinemia Type V
Hyperlipoproteinemia Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 2005 2005
dbSNP: rs777046568
rs777046568 		1.000 0.080 11 116790802 frameshift variant G/- del 6.0E-05 7.0E-06
CUI: C0020481
Disease: Hyperlipoproteinemia Type V
Hyperlipoproteinemia Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017