LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Disease: Hypercholesterolemia, Familial ×
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: rs268
rs268 		0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.030 1.000 3 1998 2006
dbSNP: rs118204057
rs118204057 		0.732 0.400 8 19954222 missense variant G/A;C snv 1.9E-04
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1998 1998
dbSNP: rs118204060
rs118204060 		0.807 0.160 8 19954279 missense variant C/T snv 4.0E-05 1.4E-05
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1998 1998