LIPC, lipase C, hepatic type, 3990

N. diseases: 120; N. variants: 95
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: rs3829462
rs3829462
1.000 0.040 15 58560880 missense variant C/A;T snv 0.97
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
Nutritional and Metabolic Diseases 0.010 1.000 1 1999 1999
dbSNP: rs6083
rs6083
1.000 0.080 15 58545811 missense variant A/C;G snv 4.0E-06; 0.47
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs6084
rs6084
0.925 0.120 15 58545839 synonymous variant C/A;G snv 1.2E-05; 0.43
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2008 2008
dbSNP: rs6084
rs6084
0.925 0.120 15 58545839 synonymous variant C/A;G snv 1.2E-05; 0.43
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs17190517
rs17190517
15 58436945 intron variant C/T snv 0.37 0.33
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs17190517
rs17190517
15 58436945 intron variant C/T snv 0.37 0.33
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs17190517
rs17190517
15 58436945 intron variant C/T snv 0.37 0.33
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs1800588
rs1800588
0.790 0.200 15 58431476 intron variant C/G;T snv 0.30
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.800 1.000 6 2012 2019
dbSNP: rs1800588
rs1800588
0.790 0.200 15 58431476 intron variant C/G;T snv 0.30
High density lipoprotein measurement
0.800 1.000 5 2008 2019
dbSNP: rs1800588
rs1800588
0.790 0.200 15 58431476 intron variant C/G;T snv 0.30
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.800 1.000 4 2012 2018
dbSNP: rs1800588
rs1800588
0.790 0.200 15 58431476 intron variant C/G;T snv 0.30
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.030 1.000 3 2009 2013
dbSNP: rs1800588
rs1800588
0.790 0.200 15 58431476 intron variant C/G;T snv 0.30
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.720 1.000 3 2009 2013
dbSNP: rs1800588
rs1800588
0.790 0.200 15 58431476 intron variant C/G;T snv 0.30
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 2 2008 2012
dbSNP: rs1800588
rs1800588
0.790 0.200 15 58431476 intron variant C/G;T snv 0.30
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.020 1.000 2 2009 2013
dbSNP: rs1800588
rs1800588
0.790 0.200 15 58431476 intron variant C/G;T snv 0.30
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1800588
rs1800588
0.790 0.200 15 58431476 intron variant C/G;T snv 0.30
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs1800588
rs1800588
0.790 0.200 15 58431476 intron variant C/G;T snv 0.30
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1800588
rs1800588
0.790 0.200 15 58431476 intron variant C/G;T snv 0.30
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1800588
rs1800588
0.790 0.200 15 58431476 intron variant C/G;T snv 0.30
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1800588
rs1800588
0.790 0.200 15 58431476 intron variant C/G;T snv 0.30
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs1800588
rs1800588
0.790 0.200 15 58431476 intron variant C/G;T snv 0.30
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1800588
rs1800588
0.790 0.200 15 58431476 intron variant C/G;T snv 0.30
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1800588
rs1800588
0.790 0.200 15 58431476 intron variant C/G;T snv 0.30
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs6074
rs6074
15 58568764 synonymous variant C/A;G snv 0.19; 2.8E-05
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs8192701
rs8192701
15 58432172 non coding transcript exon variant C/T snv 0.12 0.10
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012