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: rs113298164
rs113298164 		1.000 0.040 15 58563549 missense variant C/T snv 2.9E-03 2.9E-03
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs1566946168
rs1566946168 		1.000 0.040 15 58545750 missense variant G/A snv
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs2070895
rs2070895 		0.807 0.120 15 58431740 intron variant G/A snv 0.33
CUI: C2675071
Disease: HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12 		0.700 0
dbSNP: rs121912502
rs121912502 		0.925 0.080 15 58548387 missense variant C/T snv 1.0E-03 7.5E-04
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		Nutritional and Metabolic Diseases 0.710 1.000 3 1991 1998
dbSNP: rs202215798
rs202215798 		1.000 0.040 15 58560960 missense variant T/C snv 1.6E-05 1.4E-05
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		Nutritional and Metabolic Diseases 0.010 1.000 1 1991 1991
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: rs6078
rs6078 		0.882 0.120 15 58541794 missense variant G/A;T snv 7.1E-02; 8.0E-06
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121912502
rs121912502 		0.925 0.080 15 58548387 missense variant C/T snv 1.0E-03 7.5E-04
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2000 2000
dbSNP: rs6078
rs6078 		0.882 0.120 15 58541794 missense variant G/A;T snv 7.1E-02; 8.0E-06
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2000 2000
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: 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: 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: 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: rs1800588
rs1800588 		0.790 0.200 15 58431476 intron variant C/G;T snv 0.30
CUI: C0392885
Disease: High density lipoprotein measurement
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: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 2 2008 2012
dbSNP: rs11858164
rs11858164 		15 58450532 intron variant T/G snv 0.39
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2008 2008
dbSNP: rs11858164
rs11858164 		15 58450532 intron variant T/G snv 0.39
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2008 2008
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: 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: 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: 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: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2009 2013
dbSNP: rs473224
rs473224 		15 58445142 intron variant T/A;G snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 2 2009 2012