LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
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: 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: 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: rs328
rs328 		0.732 0.440 8 19962213 stop gained C/G snv 9.2E-02 9.0E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 8 2007 2019
dbSNP: rs13702
rs13702 		0.925 0.160 8 19966981 3 prime UTR variant T/A;C snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 5 2011 2018
dbSNP: rs326
rs326 		8 19961928 intron variant A/G snv 0.37
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 5 2008 2019
dbSNP: rs328
rs328 		0.732 0.440 8 19962213 stop gained C/G snv 9.2E-02 9.0E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 5 2008 2019
dbSNP: rs268
rs268 		0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 4 2012 2019
dbSNP: rs268
rs268 		0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 4 2012 2019
dbSNP: rs326
rs326 		8 19961928 intron variant A/G snv 0.37
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 4 2012 2019
dbSNP: rs13702
rs13702 		0.925 0.160 8 19966981 3 prime UTR variant T/A;C snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 3 2011 2018
dbSNP: rs15285
rs15285 		1.000 0.040 8 19967156 3 prime UTR variant C/T snv 0.36
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 3 2011 2019
dbSNP: rs264
rs264 		0.882 0.080 8 19955669 intron variant G/A snv 0.14
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.800 1.000 3 2013 2018