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: rs118204060
rs118204060
0.807 0.160 8 19954279 missense variant C/T snv 4.0E-05 1.4E-05
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2002 2002
dbSNP: rs268
rs268
0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs320
rs320
0.827 0.200 8 19961566 intron variant T/A;G snv
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs328
rs328
0.732 0.440 8 19962213 stop gained C/G snv 9.2E-02 9.0E-02
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017