APOA5, apolipoprotein A5, 116519

N. diseases: 107; N. variants: 22
Disease: Hyperlipoproteinemia Type IV ×
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: rs201079485
rs201079485 		0.925 0.080 11 116790940 stop gained G/A;T snv 8.0E-05; 4.0E-06
CUI: C0020480
Disease: Hyperlipoproteinemia Type IV
Hyperlipoproteinemia Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0