LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Disease: Hyperlipidemia, Familial Combined ×
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: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.850 0.800 5 1995 2009
dbSNP: rs118204057
rs118204057 		0.732 0.400 8 19954222 missense variant G/A;C snv 1.9E-04
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1801177
rs1801177 		0.742 0.240 8 19948197 missense variant G/A;C snv 1.4E-02; 2.0E-05
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs118204060
rs118204060 		0.807 0.160 8 19954279 missense variant C/T snv 4.0E-05 1.4E-05
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs328
rs328 		0.732 0.440 8 19962213 stop gained C/G snv 9.2E-02 9.0E-02
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs750594245
rs750594245 		0.925 0.080 8 19948248 missense variant A/G snv 8.0E-06
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2002 2002