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: rs17269348
rs17269348 		0.925 0.040 15 58532442 intron variant A/G snv 7.8E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2070895
rs2070895 		0.807 0.120 15 58431740 intron variant G/A snv 0.33
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.710 1.000 2 2016 2019
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: rs261332
rs261332 		0.851 0.120 15 58435126 non coding transcript exon variant A/G snv 0.80
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs261332
rs261332 		0.851 0.120 15 58435126 non coding transcript exon variant A/G snv 0.80
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2016 2016
dbSNP: rs1077834
rs1077834 		15 58431280 intron variant T/C snv 0.34
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1191915875
rs1191915875 		15 58563545 missense variant A/G snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs261332
rs261332 		0.851 0.120 15 58435126 non coding transcript exon variant A/G snv 0.80
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2008 2008
dbSNP: rs261332
rs261332 		0.851 0.120 15 58435126 non coding transcript exon variant A/G snv 0.80
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
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: rs774232279
rs774232279 		0.882 0.040 15 58548572 missense variant G/A;T snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
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: 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: rs774232279
rs774232279 		0.882 0.040 15 58548572 missense variant G/A;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
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: rs261332
rs261332 		0.851 0.120 15 58435126 non coding transcript exon variant A/G snv 0.80
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs774232279
rs774232279 		0.882 0.040 15 58548572 missense variant G/A;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
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: rs261332
rs261332 		0.851 0.120 15 58435126 non coding transcript exon variant A/G snv 0.80
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.700 1.000 1 2016 2016
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: rs261332
rs261332 		0.851 0.120 15 58435126 non coding transcript exon variant A/G snv 0.80
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2070895
rs2070895 		0.807 0.120 15 58431740 intron variant G/A snv 0.33
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.710 1.000 1 2008 2008
dbSNP: rs6078
rs6078 		0.882 0.120 15 58541794 missense variant G/A;T snv 7.1E-02; 8.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs6083
rs6083 		1.000 0.080 15 58545811 missense variant A/C;G snv 4.0E-06; 0.47
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2070895
rs2070895 		0.807 0.120 15 58431740 intron variant G/A snv 0.33
CUI: C3160761
Disease: Diabetic dyslipidaemia
Diabetic dyslipidaemia 		0.010 1.000 1 2017 2017