LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Disease: Familial hyperchylomicronemia 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: rs371282890
rs371282890 		0.827 0.120 8 19955900 missense variant C/G snv 1.1E-04 6.3E-05
CUI: C2931862
Disease: Familial hyperchylomicronemia syndrome
Familial hyperchylomicronemia syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs773891125
rs773891125 		0.827 0.120 8 19955896 frameshift variant CT/- delins
CUI: C2931862
Disease: Familial hyperchylomicronemia syndrome
Familial hyperchylomicronemia syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006