LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Disease: Hyperlipoproteinemia Type I ×
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: rs118204057
rs118204057 		0.732 0.400 8 19954222 missense variant G/A;C snv 1.9E-04
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.860 0.963 27 1990 2012
dbSNP: rs118204059
rs118204059 		1.000 0.080 8 19955876 missense variant T/A snv
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 22 1990 2012
dbSNP: rs118204060
rs118204060 		0.807 0.160 8 19954279 missense variant C/T snv 4.0E-05 1.4E-05
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 22 1990 2012
dbSNP: rs118204062
rs118204062 		1.000 0.080 8 19955874 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 22 1990 2017
dbSNP: rs118204064
rs118204064 		1.000 0.080 8 19954126 missense variant A/G snv
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 22 1990 2012
dbSNP: rs118204068
rs118204068 		0.925 0.120 8 19955894 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 22 1990 2012
dbSNP: rs118204067
rs118204067 		1.000 0.080 8 19954271 missense variant C/G snv 4.0E-06
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 21 1990 2012
dbSNP: rs118204069
rs118204069 		1.000 0.080 8 19951856 missense variant T/C snv 7.0E-06
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 21 1990 2012
dbSNP: rs118204072
rs118204072 		1.000 0.080 8 19954174 missense variant C/G;T snv 4.0E-06
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 2 1993 2012
dbSNP: rs118204076
rs118204076 		1.000 0.080 8 19954199 missense variant C/G;T snv 1.2E-05
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 2 1993 2012
dbSNP: rs118204082
rs118204082 		0.851 0.120 8 19955863 missense variant C/G;T snv 1.5E-04
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 2 2000 2012
dbSNP: rs118204061
rs118204061 		1.000 0.080 8 19954240 missense variant T/C snv 1.6E-05 4.2E-05
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 29 1990 2016
dbSNP: rs118204056
rs118204056 		1.000 0.080 8 19954185 missense variant G/A snv 7.0E-06
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 21 1990 2012
dbSNP: rs118204063
rs118204063 		1.000 0.080 8 19953386 missense variant G/A snv 4.0E-06
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 21 1990 2012
dbSNP: rs118204071
rs118204071 		0.925 0.080 8 19959322 missense variant G/A snv
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2012 2012
dbSNP: rs118204073
rs118204073 		0.925 0.120 8 19951825 missense variant A/C snv 4.0E-06 7.0E-06
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2012 2012
dbSNP: rs118204075
rs118204075 		1.000 0.080 8 19954243 missense variant G/A snv
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2012 2012
dbSNP: rs118204077
rs118204077 		1.000 0.080 8 19955873 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2012 2012
dbSNP: rs118204078
rs118204078 		0.925 0.080 8 19960935 missense variant C/G snv
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2012 2012
dbSNP: rs118204079
rs118204079 		1.000 0.080 8 19962126 missense variant G/A snv
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2012 2012
dbSNP: rs118204080
rs118204080 		1.000 0.080 8 19954333 missense variant T/C snv 2.0E-05
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2012 2012
dbSNP: rs371282890
rs371282890 		0.827 0.120 8 19955900 missense variant C/G snv 1.1E-04 6.3E-05
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.720 1.000 22 1990 2016
dbSNP: rs528243561
rs528243561 		1.000 0.080 8 19954258 missense variant T/A;C snv 3.6E-05
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 21 1990 2019
dbSNP: rs35414700
rs35414700 		1.000 0.080 8 19955901 missense variant T/G snv 1.2E-05 1.4E-05
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 2000 2000
dbSNP: rs1181582051
rs1181582051 		1.000 0.080 8 19956048 missense variant T/C snv 4.0E-06
CUI: C0023817
Disease: Hyperlipoproteinemia Type I
Hyperlipoproteinemia Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 20 1990 2005