LPL, lipoprotein lipase, 4023

N. diseases: 290; N. variants: 116
Disease: Hypertriglyceridemia ×
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: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.060 0.667 6 1995 2000
dbSNP: rs118204057
rs118204057 		0.732 0.400 8 19954222 missense variant G/A;C snv 1.9E-04
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.030 1.000 3 1998 2020
dbSNP: rs118204060
rs118204060 		0.807 0.160 8 19954279 missense variant C/T snv 4.0E-05 1.4E-05
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.030 1.000 3 2002 2007
dbSNP: rs371282890
rs371282890 		0.827 0.120 8 19955900 missense variant C/G snv 1.1E-04 6.3E-05
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.030 1.000 3 2000 2016
dbSNP: rs773891125
rs773891125 		0.827 0.120 8 19955896 frameshift variant CT/- delins
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.030 1.000 3 2000 2016
dbSNP: rs35414700
rs35414700 		1.000 0.080 8 19955901 missense variant T/G snv 1.2E-05 1.4E-05
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.020 1.000 2 2000 2018
dbSNP: rs145657341
rs145657341 		0.925 0.120 8 19951811 missense variant G/A snv 1.7E-04 7.0E-05
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs149089920
rs149089920 		0.925 0.120 8 19962134 missense variant G/A snv 6.0E-05 2.1E-04
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 1998 1998
dbSNP: rs1801177
rs1801177 		0.742 0.240 8 19948197 missense variant G/A;C snv 1.4E-02; 2.0E-05
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 < 0.001 1 2000 2000
dbSNP: rs748349562
rs748349562 		1.000 0.080 8 19954131 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs761886494
rs761886494 		0.925 0.040 8 19955870 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016