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: 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: 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: rs2070895
rs2070895 		0.807 0.120 15 58431740 intron variant G/A snv 0.33
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 7 2012 2019
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: rs1077834
rs1077834 		15 58431280 intron variant T/C snv 0.34
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 5 2010 2019
dbSNP: rs1077835
rs1077835 		15 58431227 intron variant A/G snv 0.34
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 5 2015 2019
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: rs261334
rs261334 		15 58434545 intron variant G/C snv 0.73
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 5 2010 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: rs8034802
rs8034802 		15 58432593 intron variant T/A snv 0.33
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 4 2011 2019
dbSNP: rs1077835
rs1077835 		15 58431227 intron variant A/G snv 0.34
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 3 2013 2019
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: 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: rs2070895
rs2070895 		0.807 0.120 15 58431740 intron variant G/A snv 0.33
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 3 2012 2012
dbSNP: rs261332
rs261332 		0.851 0.120 15 58435126 non coding transcript exon variant A/G snv 0.80
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2012 2018
dbSNP: rs261332
rs261332 		0.851 0.120 15 58435126 non coding transcript exon variant A/G snv 0.80
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 3 2012 2018
dbSNP: rs261342
rs261342 		15 58438954 intron variant G/A;C;T snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 3 2012 2019
dbSNP: rs261342
rs261342 		15 58438954 intron variant G/A;C;T snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 3 2012 2019
dbSNP: rs1077834
rs1077834 		15 58431280 intron variant T/C snv 0.34
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 2 2018 2019
dbSNP: rs1077834
rs1077834 		15 58431280 intron variant T/C snv 0.34
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2017 2018
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